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Items: 1 to 20 of 603

1.

rs1488858757 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    8:17081709 (GRCh38)
    8:16939218 (GRCh37)
    Canonical SPDI:
    NC_000008.11:17081708:A:G
    Gene:
    MICU3 (Varview)
    Functional Consequence:
    splice_acceptor_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000008/1 (GnomAD_exomes)
    G=0.000008/2 (TOPMED)
    G=0.000014/2 (GnomAD)
    HGVS:
    NC_000008.11:g.17081709A>G, NC_000008.10:g.16939218A>G, XM_006716333.4:c.663A>G, XM_006716333.3:c.663A>G, XM_006716333.2:c.663A>G, XM_006716333.1:c.663A>G, XR_001745515.3:n.705A>G, XR_001745515.2:n.703A>G, XR_001745515.1:n.703A>G, NM_181723.3:c.663A>G, NM_181723.2:c.663A>G, XM_005273477.3:c.663A>G, XM_005273477.2:c.663A>G, XM_005273477.1:c.663A>G, XM_006716328.3:c.663A>G, XM_006716328.2:c.663A>G, XM_006716328.1:c.663A>G, XM_006716330.3:c.663A>G, XM_006716330.2:c.663A>G, XM_006716330.1:c.663A>G, XM_011544508.3:c.663A>G, XM_011544508.2:c.663A>G, XM_011544508.1:c.663A>G, XR_949390.3:n.705A>G, XR_949390.2:n.703A>G, XR_949390.1:n.699A>G, NR_146233.2:n.705A>G, NR_146233.1:n.705A>G, XR_001745516.2:n.705A>G, XR_001745516.1:n.703A>G, XM_017013337.2:c.663A>G, XM_017013337.1:c.663A>G, XR_001745514.2:n.705A>G, XR_001745514.1:n.703A>G, XR_001745517.2:n.705A>G, XR_001745517.1:n.703A>G, XM_017013338.2:c.663A>G, XM_017013338.1:c.663A>G, XM_017013339.2:c.663A>G, XM_017013339.1:c.663A>G, XM_017013341.2:c.663A>G, XM_017013341.1:c.663A>G, XM_024447133.2:c.663A>G, XM_024447133.1:c.663A>G, XM_024447134.2:c.663A>G, XM_024447134.1:c.663A>G, XM_024447135.2:c.663A>G, XM_024447135.1:c.663A>G, XM_017013343.2:c.663A>G, XM_017013343.1:c.663A>G, XM_047421706.1:c.135A>G, XR_007060729.1:n.705A>G, XM_047421707.1:c.663A>G, XM_047421708.1:c.663A>G, XM_047421709.1:c.663A>G

    2.

    rs1487805214 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      8:17116547 (GRCh38)
      8:16974056 (GRCh37)
      Canonical SPDI:
      NC_000008.11:17116546:A:T
      Gene:
      MICU3 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      HGVS:
      NC_000008.11:g.17116547A>T, NC_000008.10:g.16974056A>T, XR_001745515.3:n.1513A>T, XR_001745515.2:n.1511A>T, XR_001745515.1:n.1511A>T, NM_181723.3:c.1471A>T, NM_181723.2:c.1471A>T, XM_005273477.3:c.1432A>T, XM_005273477.2:c.1432A>T, XM_005273477.1:c.1432A>T, XM_006716328.3:c.1375A>T, XM_006716328.2:c.1375A>T, XM_006716328.1:c.1375A>T, XM_006716330.3:c.1102A>T, XM_006716330.2:c.1102A>T, XM_006716330.1:c.1102A>T, NR_146233.2:n.1700A>T, NR_146233.1:n.1700A>T, NM_001349810.2:c.1453A>T, NM_001349810.1:c.1453A>T, XM_017013336.2:c.1414A>T, XM_017013336.1:c.1414A>T, XR_001745514.2:n.1513A>T, XR_001745514.1:n.1511A>T, XM_047421706.1:c.943A>T, XR_007060729.1:n.1513A>T, NP_859074.1:p.Ser491Cys, XP_005273534.1:p.Ser478Cys, XP_006716391.1:p.Ser459Cys, XP_006716393.1:p.Ser368Cys, NP_001336739.1:p.Ser485Cys, XP_016868825.1:p.Ser472Cys, XP_047277662.1:p.Ser315Cys

      3.

      rs1487725307 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CC>- [Show Flanks]
        Chromosome:
        8:17118732 (GRCh38)
        8:16976241 (GRCh37)
        Canonical SPDI:
        NC_000008.11:17118729:CCCC:CC
        Gene:
        MICU3 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
        Validated:
        by frequency,by cluster
        MAF:
        -=0.000007/1 (GnomAD)
        HGVS:
        NC_000008.11:g.17118732_17118733del, NC_000008.10:g.16976241_16976242del, XR_001745515.3:n.1592_1593del, XR_001745515.2:n.1590_1591del, XR_001745515.1:n.1590_1591del, NM_181723.3:c.1550_1551del, NM_181723.2:c.1550_1551del, XM_005273477.3:c.1511_1512del, XM_005273477.2:c.1511_1512del, XM_005273477.1:c.1511_1512del, XM_006716328.3:c.1454_1455del, XM_006716328.2:c.1454_1455del, XM_006716328.1:c.1454_1455del, XM_006716330.3:c.1181_1182del, XM_006716330.2:c.1181_1182del, XM_006716330.1:c.1181_1182del, NR_146233.2:n.1779_1780del, NR_146233.1:n.1779_1780del, NM_001349810.2:c.1532_1533del, NM_001349810.1:c.1532_1533del, XM_017013336.2:c.1493_1494del, XM_017013336.1:c.1493_1494del, XR_001745516.2:n.1434_1435del, XR_001745516.1:n.1432_1433del, XR_001745514.2:n.1592_1593del, XR_001745514.1:n.1590_1591del, XM_047421706.1:c.1022_1023del, XR_007060729.1:n.1592_1593del, NP_859074.1:p.Pro517fs, XP_005273534.1:p.Pro504fs, XP_006716391.1:p.Pro485fs, XP_006716393.1:p.Pro394fs, NP_001336739.1:p.Pro511fs, XP_016868825.1:p.Pro498fs, XP_047277662.1:p.Pro341fs

        4.

        rs1486582649 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          A>- [Show Flanks]
          Chromosome:
          8:17114155 (GRCh38)
          8:16971664 (GRCh37)
          Canonical SPDI:
          NC_000008.11:17114154:AA:A
          Gene:
          MICU3 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          -=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000008.11:g.17114156del, NC_000008.10:g.16971665del, XR_001745515.3:n.1363del, XR_001745515.2:n.1361del, XR_001745515.1:n.1361del, NM_181723.3:c.1321del, NM_181723.2:c.1321del, XM_005273477.3:c.1282del, XM_005273477.2:c.1282del, XM_005273477.1:c.1282del, XM_006716328.3:c.1225del, XM_006716328.2:c.1225del, XM_006716328.1:c.1225del, XM_006716330.3:c.952del, XM_006716330.2:c.952del, XM_006716330.1:c.952del, NR_146233.2:n.1550del, NR_146233.1:n.1550del, NM_001349810.2:c.1303del, NM_001349810.1:c.1303del, XM_017013336.2:c.1264del, XM_017013336.1:c.1264del, XR_001745516.2:n.1363del, XR_001745516.1:n.1361del, XR_001745514.2:n.1363del, XR_001745514.1:n.1361del, XM_047421706.1:c.793del, XR_007060729.1:n.1363del, NP_859074.1:p.Ala440_Ile441insTer, XP_005273534.1:p.Ala427_Ile428insTer, XP_006716391.1:p.Ala408_Ile409insTer, XP_006716393.1:p.Ala317_Ile318insTer, NP_001336739.1:p.Ala434_Ile435insTer, XP_016868825.1:p.Ala421_Ile422insTer, XP_047277662.1:p.Ala264_Ile265insTer

          5.

          rs1486064067 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            8:17090567 (GRCh38)
            8:16948076 (GRCh37)
            Canonical SPDI:
            NC_000008.11:17090566:C:G
            Gene:
            MICU3 (Varview)
            Functional Consequence:
            missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000011/3 (TOPMED)
            G=0.000014/2 (GnomAD)
            HGVS:
            NC_000008.11:g.17090567C>G, NC_000008.10:g.16948076C>G, XR_001745515.3:n.913C>G, XR_001745515.2:n.911C>G, XR_001745515.1:n.911C>G, NM_181723.3:c.871C>G, NM_181723.2:c.871C>G, XM_006716328.3:c.871C>G, XM_006716328.2:c.871C>G, XM_006716328.1:c.871C>G, XM_006716330.3:c.871C>G, XM_006716330.2:c.871C>G, XM_006716330.1:c.871C>G, XM_011544508.3:c.871C>G, XM_011544508.2:c.871C>G, XM_011544508.1:c.871C>G, XR_949390.3:n.913C>G, XR_949390.2:n.911C>G, XR_949390.1:n.907C>G, NR_146233.2:n.913C>G, NR_146233.1:n.913C>G, NM_001349810.2:c.853C>G, NM_001349810.1:c.853C>G, XR_001745516.2:n.913C>G, XR_001745516.1:n.911C>G, XM_017013337.2:c.871C>G, XM_017013337.1:c.871C>G, XR_001745514.2:n.913C>G, XR_001745514.1:n.911C>G, XR_001745517.2:n.913C>G, XR_001745517.1:n.911C>G, XM_017013338.2:c.871C>G, XM_017013338.1:c.871C>G, XM_017013339.2:c.871C>G, XM_017013339.1:c.871C>G, XM_024447133.2:c.871C>G, XM_024447133.1:c.871C>G, XM_024447134.2:c.871C>G, XM_024447134.1:c.871C>G, XM_047421706.1:c.343C>G, XR_007060729.1:n.913C>G, XM_047421708.1:c.871C>G, NP_859074.1:p.His291Asp, XP_006716391.1:p.His291Asp, XP_006716393.1:p.His291Asp, XP_011542810.1:p.His291Asp, NP_001336739.1:p.His285Asp, XP_016868826.1:p.His291Asp, XP_016868827.1:p.His291Asp, XP_016868828.1:p.His291Asp, XP_024302901.1:p.His291Asp, XP_024302902.1:p.His291Asp, XP_047277662.1:p.His115Asp, XP_047277664.1:p.His291Asp

            6.

            rs1485023957 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              8:17087023 (GRCh38)
              8:16944532 (GRCh37)
              Canonical SPDI:
              NC_000008.11:17087022:G:A
              Gene:
              MICU3 (Varview)
              Functional Consequence:
              synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000008.11:g.17087023G>A, NC_000008.10:g.16944532G>A, XM_006716333.4:c.837G>A, XM_006716333.3:c.837G>A, XM_006716333.2:c.837G>A, XM_006716333.1:c.837G>A, XR_001745515.3:n.879G>A, XR_001745515.2:n.877G>A, XR_001745515.1:n.877G>A, NM_181723.3:c.837G>A, NM_181723.2:c.837G>A, XM_005273477.3:c.837G>A, XM_005273477.2:c.837G>A, XM_005273477.1:c.837G>A, XM_006716328.3:c.837G>A, XM_006716328.2:c.837G>A, XM_006716328.1:c.837G>A, XM_006716330.3:c.837G>A, XM_006716330.2:c.837G>A, XM_006716330.1:c.837G>A, XM_011544508.3:c.837G>A, XM_011544508.2:c.837G>A, XM_011544508.1:c.837G>A, XR_949390.3:n.879G>A, XR_949390.2:n.877G>A, XR_949390.1:n.873G>A, NR_146233.2:n.879G>A, NR_146233.1:n.879G>A, NM_001349810.2:c.819G>A, NM_001349810.1:c.819G>A, XM_017013336.2:c.819G>A, XM_017013336.1:c.819G>A, XR_001745516.2:n.879G>A, XR_001745516.1:n.877G>A, XM_017013337.2:c.837G>A, XM_017013337.1:c.837G>A, XR_001745514.2:n.879G>A, XR_001745514.1:n.877G>A, XR_001745517.2:n.879G>A, XR_001745517.1:n.877G>A, XM_017013338.2:c.837G>A, XM_017013338.1:c.837G>A, XM_017013339.2:c.837G>A, XM_017013339.1:c.837G>A, XM_017013341.2:c.837G>A, XM_017013341.1:c.837G>A, XM_024447133.2:c.837G>A, XM_024447133.1:c.837G>A, XM_024447134.2:c.837G>A, XM_024447134.1:c.837G>A, XM_024447135.2:c.837G>A, XM_024447135.1:c.837G>A, XM_017013343.2:c.837G>A, XM_017013343.1:c.837G>A, XM_047421706.1:c.309G>A, XR_007060729.1:n.879G>A, XM_047421707.1:c.837G>A, XM_047421708.1:c.837G>A, XM_047421709.1:c.837G>A

              7.

              rs1484644985 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                8:17064225 (GRCh38)
                8:16921734 (GRCh37)
                Canonical SPDI:
                NC_000008.11:17064224:G:C
                Gene:
                MICU3 (Varview)
                Functional Consequence:
                missense_variant,non_coding_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000008/2 (TOPMED)
                HGVS:
                NC_000008.11:g.17064225G>C, NC_000008.10:g.16921734G>C, XM_006716333.4:c.523G>C, XM_006716333.3:c.523G>C, XM_006716333.2:c.523G>C, XM_006716333.1:c.523G>C, XR_001745515.3:n.565G>C, XR_001745515.2:n.563G>C, XR_001745515.1:n.563G>C, NM_181723.3:c.523G>C, NM_181723.2:c.523G>C, XM_005273477.3:c.523G>C, XM_005273477.2:c.523G>C, XM_005273477.1:c.523G>C, XM_006716328.3:c.523G>C, XM_006716328.2:c.523G>C, XM_006716328.1:c.523G>C, XM_006716330.3:c.523G>C, XM_006716330.2:c.523G>C, XM_006716330.1:c.523G>C, XM_011544508.3:c.523G>C, XM_011544508.2:c.523G>C, XM_011544508.1:c.523G>C, XR_949390.3:n.565G>C, XR_949390.2:n.563G>C, XR_949390.1:n.559G>C, NR_146233.2:n.565G>C, NR_146233.1:n.565G>C, NM_001349810.2:c.523G>C, NM_001349810.1:c.523G>C, XM_017013336.2:c.523G>C, XM_017013336.1:c.523G>C, XR_001745516.2:n.565G>C, XR_001745516.1:n.563G>C, XM_017013337.2:c.523G>C, XM_017013337.1:c.523G>C, XR_001745514.2:n.565G>C, XR_001745514.1:n.563G>C, XR_001745517.2:n.565G>C, XR_001745517.1:n.563G>C, XM_017013338.2:c.523G>C, XM_017013338.1:c.523G>C, XM_017013339.2:c.523G>C, XM_017013339.1:c.523G>C, XM_017013341.2:c.523G>C, XM_017013341.1:c.523G>C, XM_024447133.2:c.523G>C, XM_024447133.1:c.523G>C, XM_024447134.2:c.523G>C, XM_024447134.1:c.523G>C, XM_024447135.2:c.523G>C, XM_024447135.1:c.523G>C, XM_017013343.2:c.523G>C, XM_017013343.1:c.523G>C, XM_047421706.1:c.27G>C, XR_007060729.1:n.565G>C, XM_047421707.1:c.523G>C, XM_047421708.1:c.523G>C, XM_047421709.1:c.523G>C, XP_006716396.1:p.Asp175His, NP_859074.1:p.Asp175His, XP_005273534.1:p.Asp175His, XP_006716391.1:p.Asp175His, XP_006716393.1:p.Asp175His, XP_011542810.1:p.Asp175His, NP_001336739.1:p.Asp175His, XP_016868825.1:p.Asp175His, XP_016868826.1:p.Asp175His, XP_016868827.1:p.Asp175His, XP_016868828.1:p.Asp175His, XP_016868830.1:p.Asp175His, XP_024302901.1:p.Asp175His, XP_024302902.1:p.Asp175His, XP_024302903.1:p.Asp175His, XP_016868832.1:p.Asp175His, XP_047277662.1:p.Gln9His, XP_047277663.1:p.Asp175His, XP_047277664.1:p.Asp175His, XP_047277665.1:p.Asp175His

                8.

                rs1483930814 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  8:17085266 (GRCh38)
                  8:16942775 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:17085265:A:C
                  Gene:
                  MICU3 (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000008.11:g.17085266A>C, NC_000008.10:g.16942775A>C, XM_006716333.4:c.725A>C, XM_006716333.3:c.725A>C, XM_006716333.2:c.725A>C, XM_006716333.1:c.725A>C, XR_001745515.3:n.767A>C, XR_001745515.2:n.765A>C, XR_001745515.1:n.765A>C, NM_181723.3:c.725A>C, NM_181723.2:c.725A>C, XM_005273477.3:c.725A>C, XM_005273477.2:c.725A>C, XM_005273477.1:c.725A>C, XM_006716328.3:c.725A>C, XM_006716328.2:c.725A>C, XM_006716328.1:c.725A>C, XM_006716330.3:c.725A>C, XM_006716330.2:c.725A>C, XM_006716330.1:c.725A>C, XM_011544508.3:c.725A>C, XM_011544508.2:c.725A>C, XM_011544508.1:c.725A>C, XR_949390.3:n.767A>C, XR_949390.2:n.765A>C, XR_949390.1:n.761A>C, NR_146233.2:n.767A>C, NR_146233.1:n.767A>C, NM_001349810.2:c.707A>C, NM_001349810.1:c.707A>C, XM_017013336.2:c.707A>C, XM_017013336.1:c.707A>C, XR_001745516.2:n.767A>C, XR_001745516.1:n.765A>C, XM_017013337.2:c.725A>C, XM_017013337.1:c.725A>C, XR_001745514.2:n.767A>C, XR_001745514.1:n.765A>C, XR_001745517.2:n.767A>C, XR_001745517.1:n.765A>C, XM_017013338.2:c.725A>C, XM_017013338.1:c.725A>C, XM_017013339.2:c.725A>C, XM_017013339.1:c.725A>C, XM_017013341.2:c.725A>C, XM_017013341.1:c.725A>C, XM_024447133.2:c.725A>C, XM_024447133.1:c.725A>C, XM_024447134.2:c.725A>C, XM_024447134.1:c.725A>C, XM_024447135.2:c.725A>C, XM_024447135.1:c.725A>C, XM_017013343.2:c.725A>C, XM_017013343.1:c.725A>C, XM_047421706.1:c.197A>C, XR_007060729.1:n.767A>C, XM_047421707.1:c.725A>C, XM_047421708.1:c.725A>C, XM_047421709.1:c.725A>C, XP_006716396.1:p.Asn242Thr, NP_859074.1:p.Asn242Thr, XP_005273534.1:p.Asn242Thr, XP_006716391.1:p.Asn242Thr, XP_006716393.1:p.Asn242Thr, XP_011542810.1:p.Asn242Thr, NP_001336739.1:p.Asn236Thr, XP_016868825.1:p.Asn236Thr, XP_016868826.1:p.Asn242Thr, XP_016868827.1:p.Asn242Thr, XP_016868828.1:p.Asn242Thr, XP_016868830.1:p.Asn242Thr, XP_024302901.1:p.Asn242Thr, XP_024302902.1:p.Asn242Thr, XP_024302903.1:p.Asn242Thr, XP_016868832.1:p.Asn242Thr, XP_047277662.1:p.Asn66Thr, XP_047277663.1:p.Asn242Thr, XP_047277664.1:p.Asn242Thr, XP_047277665.1:p.Asn242Thr

                  9.

                  rs1481820706 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    8:17116522 (GRCh38)
                    8:16974031 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:17116521:T:C
                    Gene:
                    MICU3 (Varview)
                    Functional Consequence:
                    synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:

                    10.

                    rs1480711645 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      G>- [Show Flanks]
                      Chromosome:
                      8:17027362 (GRCh38)
                      8:16884871 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:17027361:GGGGG:GGGG
                      Gene:
                      MICU3 (Varview)
                      Functional Consequence:
                      frameshift_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                      HGVS:
                      NC_000008.11:g.17027366del, NC_000008.10:g.16884875del, XM_006716333.4:c.87del, XM_006716333.3:c.87del, XM_006716333.2:c.87del, XM_006716333.1:c.87del, XR_001745515.3:n.129del, XR_001745515.2:n.127del, XR_001745515.1:n.127del, NM_181723.3:c.87del, NM_181723.2:c.87del, XM_005273477.3:c.87del, XM_005273477.2:c.87del, XM_005273477.1:c.87del, XM_006716328.3:c.87del, XM_006716328.2:c.87del, XM_006716328.1:c.87del, XM_006716330.3:c.87del, XM_006716330.2:c.87del, XM_006716330.1:c.87del, XM_011544508.3:c.87del, XM_011544508.2:c.87del, XM_011544508.1:c.87del, XR_949390.3:n.129del, XR_949390.2:n.127del, XR_949390.1:n.123del, NR_146233.2:n.129del, NR_146233.1:n.129del, NM_001349810.2:c.87del, NM_001349810.1:c.87del, XM_017013336.2:c.87del, XM_017013336.1:c.87del, XR_001745516.2:n.129del, XR_001745516.1:n.127del, XM_017013337.2:c.87del, XM_017013337.1:c.87del, XR_001745514.2:n.129del, XR_001745514.1:n.127del, XR_001745517.2:n.129del, XR_001745517.1:n.127del, XM_017013338.2:c.87del, XM_017013338.1:c.87del, XM_017013339.2:c.87del, XM_017013339.1:c.87del, XM_017013341.2:c.87del, XM_017013341.1:c.87del, XM_024447133.2:c.87del, XM_024447133.1:c.87del, XM_024447134.2:c.87del, XM_024447134.1:c.87del, XM_024447135.2:c.87del, XM_024447135.1:c.87del, XM_017013343.2:c.87del, XM_017013343.1:c.87del, XR_007060729.1:n.129del, XM_047421707.1:c.87del, XM_047421708.1:c.87del, XM_047421709.1:c.87del, XP_006716396.1:p.Arg30fs, NP_859074.1:p.Arg30fs, XP_005273534.1:p.Arg30fs, XP_006716391.1:p.Arg30fs, XP_006716393.1:p.Arg30fs, XP_011542810.1:p.Arg30fs, NP_001336739.1:p.Arg30fs, XP_016868825.1:p.Arg30fs, XP_016868826.1:p.Arg30fs, XP_016868827.1:p.Arg30fs, XP_016868828.1:p.Arg30fs, XP_016868830.1:p.Arg30fs, XP_024302901.1:p.Arg30fs, XP_024302902.1:p.Arg30fs, XP_024302903.1:p.Arg30fs, XP_016868832.1:p.Arg30fs, XP_047277663.1:p.Arg30fs, XP_047277664.1:p.Arg30fs, XP_047277665.1:p.Arg30fs

                      11.

                      rs1479956768 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        8:17064094 (GRCh38)
                        8:16921603 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:17064093:G:A,NC_000008.11:17064093:G:T
                        Gene:
                        MICU3 (Varview)
                        Functional Consequence:
                        missense_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000014/2 (GnomAD)
                        A=0.000071/1 (TOMMO)
                        HGVS:
                        NC_000008.11:g.17064094G>A, NC_000008.11:g.17064094G>T, NC_000008.10:g.16921603G>A, NC_000008.10:g.16921603G>T, XM_006716333.4:c.392G>A, XM_006716333.4:c.392G>T, XM_006716333.3:c.392G>A, XM_006716333.3:c.392G>T, XM_006716333.2:c.392G>A, XM_006716333.2:c.392G>T, XM_006716333.1:c.392G>A, XM_006716333.1:c.392G>T, XR_001745515.3:n.434G>A, XR_001745515.3:n.434G>T, XR_001745515.2:n.432G>A, XR_001745515.2:n.432G>T, XR_001745515.1:n.432G>A, XR_001745515.1:n.432G>T, NM_181723.3:c.392G>A, NM_181723.3:c.392G>T, NM_181723.2:c.392G>A, NM_181723.2:c.392G>T, XM_005273477.3:c.392G>A, XM_005273477.3:c.392G>T, XM_005273477.2:c.392G>A, XM_005273477.2:c.392G>T, XM_005273477.1:c.392G>A, XM_005273477.1:c.392G>T, XM_006716328.3:c.392G>A, XM_006716328.3:c.392G>T, XM_006716328.2:c.392G>A, XM_006716328.2:c.392G>T, XM_006716328.1:c.392G>A, XM_006716328.1:c.392G>T, XM_006716330.3:c.392G>A, XM_006716330.3:c.392G>T, XM_006716330.2:c.392G>A, XM_006716330.2:c.392G>T, XM_006716330.1:c.392G>A, XM_006716330.1:c.392G>T, XM_011544508.3:c.392G>A, XM_011544508.3:c.392G>T, XM_011544508.2:c.392G>A, XM_011544508.2:c.392G>T, XM_011544508.1:c.392G>A, XM_011544508.1:c.392G>T, XR_949390.3:n.434G>A, XR_949390.3:n.434G>T, XR_949390.2:n.432G>A, XR_949390.2:n.432G>T, XR_949390.1:n.428G>A, XR_949390.1:n.428G>T, NR_146233.2:n.434G>A, NR_146233.2:n.434G>T, NR_146233.1:n.434G>A, NR_146233.1:n.434G>T, NM_001349810.2:c.392G>A, NM_001349810.2:c.392G>T, NM_001349810.1:c.392G>A, NM_001349810.1:c.392G>T, XM_017013336.2:c.392G>A, XM_017013336.2:c.392G>T, XM_017013336.1:c.392G>A, XM_017013336.1:c.392G>T, XR_001745516.2:n.434G>A, XR_001745516.2:n.434G>T, XR_001745516.1:n.432G>A, XR_001745516.1:n.432G>T, XM_017013337.2:c.392G>A, XM_017013337.2:c.392G>T, XM_017013337.1:c.392G>A, XM_017013337.1:c.392G>T, XR_001745514.2:n.434G>A, XR_001745514.2:n.434G>T, XR_001745514.1:n.432G>A, XR_001745514.1:n.432G>T, XR_001745517.2:n.434G>A, XR_001745517.2:n.434G>T, XR_001745517.1:n.432G>A, XR_001745517.1:n.432G>T, XM_017013338.2:c.392G>A, XM_017013338.2:c.392G>T, XM_017013338.1:c.392G>A, XM_017013338.1:c.392G>T, XM_017013339.2:c.392G>A, XM_017013339.2:c.392G>T, XM_017013339.1:c.392G>A, XM_017013339.1:c.392G>T, XM_017013341.2:c.392G>A, XM_017013341.2:c.392G>T, XM_017013341.1:c.392G>A, XM_017013341.1:c.392G>T, XM_024447133.2:c.392G>A, XM_024447133.2:c.392G>T, XM_024447133.1:c.392G>A, XM_024447133.1:c.392G>T, XM_024447134.2:c.392G>A, XM_024447134.2:c.392G>T, XM_024447134.1:c.392G>A, XM_024447134.1:c.392G>T, XM_024447135.2:c.392G>A, XM_024447135.2:c.392G>T, XM_024447135.1:c.392G>A, XM_024447135.1:c.392G>T, XM_017013343.2:c.392G>A, XM_017013343.2:c.392G>T, XM_017013343.1:c.392G>A, XM_017013343.1:c.392G>T, XR_007060729.1:n.434G>A, XR_007060729.1:n.434G>T, XM_047421707.1:c.392G>A, XM_047421707.1:c.392G>T, XM_047421708.1:c.392G>A, XM_047421708.1:c.392G>T, XM_047421709.1:c.392G>A, XM_047421709.1:c.392G>T, XP_006716396.1:p.Gly131Asp, XP_006716396.1:p.Gly131Val, NP_859074.1:p.Gly131Asp, NP_859074.1:p.Gly131Val, XP_005273534.1:p.Gly131Asp, XP_005273534.1:p.Gly131Val, XP_006716391.1:p.Gly131Asp, XP_006716391.1:p.Gly131Val, XP_006716393.1:p.Gly131Asp, XP_006716393.1:p.Gly131Val, XP_011542810.1:p.Gly131Asp, XP_011542810.1:p.Gly131Val, NP_001336739.1:p.Gly131Asp, NP_001336739.1:p.Gly131Val, XP_016868825.1:p.Gly131Asp, XP_016868825.1:p.Gly131Val, XP_016868826.1:p.Gly131Asp, XP_016868826.1:p.Gly131Val, XP_016868827.1:p.Gly131Asp, XP_016868827.1:p.Gly131Val, XP_016868828.1:p.Gly131Asp, XP_016868828.1:p.Gly131Val, XP_016868830.1:p.Gly131Asp, XP_016868830.1:p.Gly131Val, XP_024302901.1:p.Gly131Asp, XP_024302901.1:p.Gly131Val, XP_024302902.1:p.Gly131Asp, XP_024302902.1:p.Gly131Val, XP_024302903.1:p.Gly131Asp, XP_024302903.1:p.Gly131Val, XP_016868832.1:p.Gly131Asp, XP_016868832.1:p.Gly131Val, XP_047277663.1:p.Gly131Asp, XP_047277663.1:p.Gly131Val, XP_047277664.1:p.Gly131Asp, XP_047277664.1:p.Gly131Val, XP_047277665.1:p.Gly131Asp, XP_047277665.1:p.Gly131Val

                        12.

                        rs1479949848 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          8:17027303 (GRCh38)
                          8:16884812 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:17027302:G:C
                          Gene:
                          MICU3 (Varview)
                          Functional Consequence:
                          missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000006/1 (GnomAD_exomes)
                          HGVS:
                          NC_000008.11:g.17027303G>C, NC_000008.10:g.16884812G>C, XM_006716333.4:c.24G>C, XM_006716333.3:c.24G>C, XM_006716333.2:c.24G>C, XM_006716333.1:c.24G>C, XR_001745515.3:n.66G>C, XR_001745515.2:n.64G>C, XR_001745515.1:n.64G>C, NM_181723.3:c.24G>C, NM_181723.2:c.24G>C, XM_005273477.3:c.24G>C, XM_005273477.2:c.24G>C, XM_005273477.1:c.24G>C, XM_006716328.3:c.24G>C, XM_006716328.2:c.24G>C, XM_006716328.1:c.24G>C, XM_006716330.3:c.24G>C, XM_006716330.2:c.24G>C, XM_006716330.1:c.24G>C, XM_011544508.3:c.24G>C, XM_011544508.2:c.24G>C, XM_011544508.1:c.24G>C, XR_949390.3:n.66G>C, XR_949390.2:n.64G>C, XR_949390.1:n.60G>C, NR_146233.2:n.66G>C, NR_146233.1:n.66G>C, NM_001349810.2:c.24G>C, NM_001349810.1:c.24G>C, XM_017013336.2:c.24G>C, XM_017013336.1:c.24G>C, XR_001745516.2:n.66G>C, XR_001745516.1:n.64G>C, XM_017013337.2:c.24G>C, XM_017013337.1:c.24G>C, XR_001745514.2:n.66G>C, XR_001745514.1:n.64G>C, XR_001745517.2:n.66G>C, XR_001745517.1:n.64G>C, XM_017013338.2:c.24G>C, XM_017013338.1:c.24G>C, XM_017013339.2:c.24G>C, XM_017013339.1:c.24G>C, XM_017013341.2:c.24G>C, XM_017013341.1:c.24G>C, XM_024447133.2:c.24G>C, XM_024447133.1:c.24G>C, XM_024447134.2:c.24G>C, XM_024447134.1:c.24G>C, XM_024447135.2:c.24G>C, XM_024447135.1:c.24G>C, XM_017013343.2:c.24G>C, XM_017013343.1:c.24G>C, XR_007060729.1:n.66G>C, XM_047421707.1:c.24G>C, XM_047421708.1:c.24G>C, XM_047421709.1:c.24G>C, XP_006716396.1:p.Leu8Phe, NP_859074.1:p.Leu8Phe, XP_005273534.1:p.Leu8Phe, XP_006716391.1:p.Leu8Phe, XP_006716393.1:p.Leu8Phe, XP_011542810.1:p.Leu8Phe, NP_001336739.1:p.Leu8Phe, XP_016868825.1:p.Leu8Phe, XP_016868826.1:p.Leu8Phe, XP_016868827.1:p.Leu8Phe, XP_016868828.1:p.Leu8Phe, XP_016868830.1:p.Leu8Phe, XP_024302901.1:p.Leu8Phe, XP_024302902.1:p.Leu8Phe, XP_024302903.1:p.Leu8Phe, XP_016868832.1:p.Leu8Phe, XP_047277663.1:p.Leu8Phe, XP_047277664.1:p.Leu8Phe, XP_047277665.1:p.Leu8Phe

                          13.

                          rs1479889013 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            8:17027366 (GRCh38)
                            8:16884875 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:17027365:G:A,NC_000008.11:17027365:G:T
                            Gene:
                            MICU3 (Varview)
                            Functional Consequence:
                            synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000008.11:g.17027366G>A, NC_000008.11:g.17027366G>T, NC_000008.10:g.16884875G>A, NC_000008.10:g.16884875G>T, XM_006716333.4:c.87G>A, XM_006716333.4:c.87G>T, XM_006716333.3:c.87G>A, XM_006716333.3:c.87G>T, XM_006716333.2:c.87G>A, XM_006716333.2:c.87G>T, XM_006716333.1:c.87G>A, XM_006716333.1:c.87G>T, XR_001745515.3:n.129G>A, XR_001745515.3:n.129G>T, XR_001745515.2:n.127G>A, XR_001745515.2:n.127G>T, XR_001745515.1:n.127G>A, XR_001745515.1:n.127G>T, NM_181723.3:c.87G>A, NM_181723.3:c.87G>T, NM_181723.2:c.87G>A, NM_181723.2:c.87G>T, XM_005273477.3:c.87G>A, XM_005273477.3:c.87G>T, XM_005273477.2:c.87G>A, XM_005273477.2:c.87G>T, XM_005273477.1:c.87G>A, XM_005273477.1:c.87G>T, XM_006716328.3:c.87G>A, XM_006716328.3:c.87G>T, XM_006716328.2:c.87G>A, XM_006716328.2:c.87G>T, XM_006716328.1:c.87G>A, XM_006716328.1:c.87G>T, XM_006716330.3:c.87G>A, XM_006716330.3:c.87G>T, XM_006716330.2:c.87G>A, XM_006716330.2:c.87G>T, XM_006716330.1:c.87G>A, XM_006716330.1:c.87G>T, XM_011544508.3:c.87G>A, XM_011544508.3:c.87G>T, XM_011544508.2:c.87G>A, XM_011544508.2:c.87G>T, XM_011544508.1:c.87G>A, XM_011544508.1:c.87G>T, XR_949390.3:n.129G>A, XR_949390.3:n.129G>T, XR_949390.2:n.127G>A, XR_949390.2:n.127G>T, XR_949390.1:n.123G>A, XR_949390.1:n.123G>T, NR_146233.2:n.129G>A, NR_146233.2:n.129G>T, NR_146233.1:n.129G>A, NR_146233.1:n.129G>T, NM_001349810.2:c.87G>A, NM_001349810.2:c.87G>T, NM_001349810.1:c.87G>A, NM_001349810.1:c.87G>T, XM_017013336.2:c.87G>A, XM_017013336.2:c.87G>T, XM_017013336.1:c.87G>A, XM_017013336.1:c.87G>T, XR_001745516.2:n.129G>A, XR_001745516.2:n.129G>T, XR_001745516.1:n.127G>A, XR_001745516.1:n.127G>T, XM_017013337.2:c.87G>A, XM_017013337.2:c.87G>T, XM_017013337.1:c.87G>A, XM_017013337.1:c.87G>T, XR_001745514.2:n.129G>A, XR_001745514.2:n.129G>T, XR_001745514.1:n.127G>A, XR_001745514.1:n.127G>T, XR_001745517.2:n.129G>A, XR_001745517.2:n.129G>T, XR_001745517.1:n.127G>A, XR_001745517.1:n.127G>T, XM_017013338.2:c.87G>A, XM_017013338.2:c.87G>T, XM_017013338.1:c.87G>A, XM_017013338.1:c.87G>T, XM_017013339.2:c.87G>A, XM_017013339.2:c.87G>T, XM_017013339.1:c.87G>A, XM_017013339.1:c.87G>T, XM_017013341.2:c.87G>A, XM_017013341.2:c.87G>T, XM_017013341.1:c.87G>A, XM_017013341.1:c.87G>T, XM_024447133.2:c.87G>A, XM_024447133.2:c.87G>T, XM_024447133.1:c.87G>A, XM_024447133.1:c.87G>T, XM_024447134.2:c.87G>A, XM_024447134.2:c.87G>T, XM_024447134.1:c.87G>A, XM_024447134.1:c.87G>T, XM_024447135.2:c.87G>A, XM_024447135.2:c.87G>T, XM_024447135.1:c.87G>A, XM_024447135.1:c.87G>T, XM_017013343.2:c.87G>A, XM_017013343.2:c.87G>T, XM_017013343.1:c.87G>A, XM_017013343.1:c.87G>T, XR_007060729.1:n.129G>A, XR_007060729.1:n.129G>T, XM_047421707.1:c.87G>A, XM_047421707.1:c.87G>T, XM_047421708.1:c.87G>A, XM_047421708.1:c.87G>T, XM_047421709.1:c.87G>A, XM_047421709.1:c.87G>T

                            14.

                            rs1479469212 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C,T [Show Flanks]
                              Chromosome:
                              8:17027570 (GRCh38)
                              8:16885079 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:17027569:G:A,NC_000008.11:17027569:G:C,NC_000008.11:17027569:G:T
                              Gene:
                              MICU3 (Varview)
                              Functional Consequence:
                              synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              HGVS:
                              NC_000008.11:g.17027570G>A, NC_000008.11:g.17027570G>C, NC_000008.11:g.17027570G>T, NC_000008.10:g.16885079G>A, NC_000008.10:g.16885079G>C, NC_000008.10:g.16885079G>T, XM_006716333.4:c.291G>A, XM_006716333.4:c.291G>C, XM_006716333.4:c.291G>T, XM_006716333.3:c.291G>A, XM_006716333.3:c.291G>C, XM_006716333.3:c.291G>T, XM_006716333.2:c.291G>A, XM_006716333.2:c.291G>C, XM_006716333.2:c.291G>T, XM_006716333.1:c.291G>A, XM_006716333.1:c.291G>C, XM_006716333.1:c.291G>T, XR_001745515.3:n.333G>A, XR_001745515.3:n.333G>C, XR_001745515.3:n.333G>T, XR_001745515.2:n.331G>A, XR_001745515.2:n.331G>C, XR_001745515.2:n.331G>T, XR_001745515.1:n.331G>A, XR_001745515.1:n.331G>C, XR_001745515.1:n.331G>T, NM_181723.3:c.291G>A, NM_181723.3:c.291G>C, NM_181723.3:c.291G>T, NM_181723.2:c.291G>A, NM_181723.2:c.291G>C, NM_181723.2:c.291G>T, XM_005273477.3:c.291G>A, XM_005273477.3:c.291G>C, XM_005273477.3:c.291G>T, XM_005273477.2:c.291G>A, XM_005273477.2:c.291G>C, XM_005273477.2:c.291G>T, XM_005273477.1:c.291G>A, XM_005273477.1:c.291G>C, XM_005273477.1:c.291G>T, XM_006716328.3:c.291G>A, XM_006716328.3:c.291G>C, XM_006716328.3:c.291G>T, XM_006716328.2:c.291G>A, XM_006716328.2:c.291G>C, XM_006716328.2:c.291G>T, XM_006716328.1:c.291G>A, XM_006716328.1:c.291G>C, XM_006716328.1:c.291G>T, XM_006716330.3:c.291G>A, XM_006716330.3:c.291G>C, XM_006716330.3:c.291G>T, XM_006716330.2:c.291G>A, XM_006716330.2:c.291G>C, XM_006716330.2:c.291G>T, XM_006716330.1:c.291G>A, XM_006716330.1:c.291G>C, XM_006716330.1:c.291G>T, XM_011544508.3:c.291G>A, XM_011544508.3:c.291G>C, XM_011544508.3:c.291G>T, XM_011544508.2:c.291G>A, XM_011544508.2:c.291G>C, XM_011544508.2:c.291G>T, XM_011544508.1:c.291G>A, XM_011544508.1:c.291G>C, XM_011544508.1:c.291G>T, XR_949390.3:n.333G>A, XR_949390.3:n.333G>C, XR_949390.3:n.333G>T, XR_949390.2:n.331G>A, XR_949390.2:n.331G>C, XR_949390.2:n.331G>T, XR_949390.1:n.327G>A, XR_949390.1:n.327G>C, XR_949390.1:n.327G>T, NR_146233.2:n.333G>A, NR_146233.2:n.333G>C, NR_146233.2:n.333G>T, NR_146233.1:n.333G>A, NR_146233.1:n.333G>C, NR_146233.1:n.333G>T, NM_001349810.2:c.291G>A, NM_001349810.2:c.291G>C, NM_001349810.2:c.291G>T, NM_001349810.1:c.291G>A, NM_001349810.1:c.291G>C, NM_001349810.1:c.291G>T, XM_017013336.2:c.291G>A, XM_017013336.2:c.291G>C, XM_017013336.2:c.291G>T, XM_017013336.1:c.291G>A, XM_017013336.1:c.291G>C, XM_017013336.1:c.291G>T, XR_001745516.2:n.333G>A, XR_001745516.2:n.333G>C, XR_001745516.2:n.333G>T, XR_001745516.1:n.331G>A, XR_001745516.1:n.331G>C, XR_001745516.1:n.331G>T, XM_017013337.2:c.291G>A, XM_017013337.2:c.291G>C, XM_017013337.2:c.291G>T, XM_017013337.1:c.291G>A, XM_017013337.1:c.291G>C, XM_017013337.1:c.291G>T, XR_001745514.2:n.333G>A, XR_001745514.2:n.333G>C, XR_001745514.2:n.333G>T, XR_001745514.1:n.331G>A, XR_001745514.1:n.331G>C, XR_001745514.1:n.331G>T, XR_001745517.2:n.333G>A, XR_001745517.2:n.333G>C, XR_001745517.2:n.333G>T, XR_001745517.1:n.331G>A, XR_001745517.1:n.331G>C, XR_001745517.1:n.331G>T, XM_017013338.2:c.291G>A, XM_017013338.2:c.291G>C, XM_017013338.2:c.291G>T, XM_017013338.1:c.291G>A, XM_017013338.1:c.291G>C, XM_017013338.1:c.291G>T, XM_017013339.2:c.291G>A, XM_017013339.2:c.291G>C, XM_017013339.2:c.291G>T, XM_017013339.1:c.291G>A, XM_017013339.1:c.291G>C, XM_017013339.1:c.291G>T, XM_017013341.2:c.291G>A, XM_017013341.2:c.291G>C, XM_017013341.2:c.291G>T, XM_017013341.1:c.291G>A, XM_017013341.1:c.291G>C, XM_017013341.1:c.291G>T, XM_024447133.2:c.291G>A, XM_024447133.2:c.291G>C, XM_024447133.2:c.291G>T, XM_024447133.1:c.291G>A, XM_024447133.1:c.291G>C, XM_024447133.1:c.291G>T, XM_024447134.2:c.291G>A, XM_024447134.2:c.291G>C, XM_024447134.2:c.291G>T, XM_024447134.1:c.291G>A, XM_024447134.1:c.291G>C, XM_024447134.1:c.291G>T, XM_024447135.2:c.291G>A, XM_024447135.2:c.291G>C, XM_024447135.2:c.291G>T, XM_024447135.1:c.291G>A, XM_024447135.1:c.291G>C, XM_024447135.1:c.291G>T, XM_017013343.2:c.291G>A, XM_017013343.2:c.291G>C, XM_017013343.2:c.291G>T, XM_017013343.1:c.291G>A, XM_017013343.1:c.291G>C, XM_017013343.1:c.291G>T, XR_007060729.1:n.333G>A, XR_007060729.1:n.333G>C, XR_007060729.1:n.333G>T, XM_047421707.1:c.291G>A, XM_047421707.1:c.291G>C, XM_047421707.1:c.291G>T, XM_047421708.1:c.291G>A, XM_047421708.1:c.291G>C, XM_047421708.1:c.291G>T, XM_047421709.1:c.291G>A, XM_047421709.1:c.291G>C, XM_047421709.1:c.291G>T

                              15.

                              rs1477765575 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                8:17105511 (GRCh38)
                                8:16963020 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:17105510:T:G
                                Gene:
                                MICU3 (Varview)
                                Functional Consequence:
                                missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000008.11:g.17105511T>G, NC_000008.10:g.16963020T>G, XR_001745515.3:n.1226T>G, XR_001745515.2:n.1224T>G, XR_001745515.1:n.1224T>G, NM_181723.3:c.1184T>G, NM_181723.2:c.1184T>G, XM_005273477.3:c.1145T>G, XM_005273477.2:c.1145T>G, XM_005273477.1:c.1145T>G, XM_006716328.3:c.1088T>G, XM_006716328.2:c.1088T>G, XM_006716328.1:c.1088T>G, NR_146233.2:n.1413T>G, NR_146233.1:n.1413T>G, NM_001349810.2:c.1166T>G, NM_001349810.1:c.1166T>G, XM_017013336.2:c.1127T>G, XM_017013336.1:c.1127T>G, XR_001745516.2:n.1226T>G, XR_001745516.1:n.1224T>G, XR_001745514.2:n.1226T>G, XR_001745514.1:n.1224T>G, XM_047421706.1:c.656T>G, XR_007060729.1:n.1226T>G, NP_859074.1:p.Leu395Arg, XP_005273534.1:p.Leu382Arg, XP_006716391.1:p.Leu363Arg, NP_001336739.1:p.Leu389Arg, XP_016868825.1:p.Leu376Arg, XP_047277662.1:p.Leu219Arg

                                16.

                                rs1475324747 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  8:17077834 (GRCh38)
                                  8:16935343 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:17077833:A:G
                                  Gene:
                                  MICU3 (Varview)
                                  Functional Consequence:
                                  missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000008.11:g.17077834A>G, NC_000008.10:g.16935343A>G, XM_006716333.4:c.619A>G, XM_006716333.3:c.619A>G, XM_006716333.2:c.619A>G, XM_006716333.1:c.619A>G, XR_001745515.3:n.661A>G, XR_001745515.2:n.659A>G, XR_001745515.1:n.659A>G, NM_181723.3:c.619A>G, NM_181723.2:c.619A>G, XM_005273477.3:c.619A>G, XM_005273477.2:c.619A>G, XM_005273477.1:c.619A>G, XM_006716328.3:c.619A>G, XM_006716328.2:c.619A>G, XM_006716328.1:c.619A>G, XM_006716330.3:c.619A>G, XM_006716330.2:c.619A>G, XM_006716330.1:c.619A>G, XM_011544508.3:c.619A>G, XM_011544508.2:c.619A>G, XM_011544508.1:c.619A>G, XR_949390.3:n.661A>G, XR_949390.2:n.659A>G, XR_949390.1:n.655A>G, NR_146233.2:n.661A>G, NR_146233.1:n.661A>G, NM_001349810.2:c.619A>G, NM_001349810.1:c.619A>G, XM_017013336.2:c.619A>G, XM_017013336.1:c.619A>G, XR_001745516.2:n.661A>G, XR_001745516.1:n.659A>G, XM_017013337.2:c.619A>G, XM_017013337.1:c.619A>G, XR_001745514.2:n.661A>G, XR_001745514.1:n.659A>G, XR_001745517.2:n.661A>G, XR_001745517.1:n.659A>G, XM_017013338.2:c.619A>G, XM_017013338.1:c.619A>G, XM_017013339.2:c.619A>G, XM_017013339.1:c.619A>G, XM_017013341.2:c.619A>G, XM_017013341.1:c.619A>G, XM_024447133.2:c.619A>G, XM_024447133.1:c.619A>G, XM_024447134.2:c.619A>G, XM_024447134.1:c.619A>G, XM_024447135.2:c.619A>G, XM_024447135.1:c.619A>G, XM_017013343.2:c.619A>G, XM_017013343.1:c.619A>G, XM_047421706.1:c.91A>G, XR_007060729.1:n.661A>G, XM_047421707.1:c.619A>G, XM_047421708.1:c.619A>G, XM_047421709.1:c.619A>G, XP_006716396.1:p.Lys207Glu, NP_859074.1:p.Lys207Glu, XP_005273534.1:p.Lys207Glu, XP_006716391.1:p.Lys207Glu, XP_006716393.1:p.Lys207Glu, XP_011542810.1:p.Lys207Glu, NP_001336739.1:p.Lys207Glu, XP_016868825.1:p.Lys207Glu, XP_016868826.1:p.Lys207Glu, XP_016868827.1:p.Lys207Glu, XP_016868828.1:p.Lys207Glu, XP_016868830.1:p.Lys207Glu, XP_024302901.1:p.Lys207Glu, XP_024302902.1:p.Lys207Glu, XP_024302903.1:p.Lys207Glu, XP_016868832.1:p.Lys207Glu, XP_047277662.1:p.Lys31Glu, XP_047277663.1:p.Lys207Glu, XP_047277664.1:p.Lys207Glu, XP_047277665.1:p.Lys207Glu

                                  17.

                                  rs1475266365 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    8:17064200 (GRCh38)
                                    8:16921709 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:17064199:T:G
                                    Gene:
                                    MICU3 (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,stop_gained,initiator_codon_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.0002/1 (ALFA)
                                    G=0.0002/1 (Estonian)
                                    HGVS:
                                    NC_000008.11:g.17064200T>G, NC_000008.10:g.16921709T>G, XM_006716333.4:c.498T>G, XM_006716333.3:c.498T>G, XM_006716333.2:c.498T>G, XM_006716333.1:c.498T>G, XR_001745515.3:n.540T>G, XR_001745515.2:n.538T>G, XR_001745515.1:n.538T>G, NM_181723.3:c.498T>G, NM_181723.2:c.498T>G, XM_005273477.3:c.498T>G, XM_005273477.2:c.498T>G, XM_005273477.1:c.498T>G, XM_006716328.3:c.498T>G, XM_006716328.2:c.498T>G, XM_006716328.1:c.498T>G, XM_006716330.3:c.498T>G, XM_006716330.2:c.498T>G, XM_006716330.1:c.498T>G, XM_011544508.3:c.498T>G, XM_011544508.2:c.498T>G, XM_011544508.1:c.498T>G, XR_949390.3:n.540T>G, XR_949390.2:n.538T>G, XR_949390.1:n.534T>G, NR_146233.2:n.540T>G, NR_146233.1:n.540T>G, NM_001349810.2:c.498T>G, NM_001349810.1:c.498T>G, XM_017013336.2:c.498T>G, XM_017013336.1:c.498T>G, XR_001745516.2:n.540T>G, XR_001745516.1:n.538T>G, XM_017013337.2:c.498T>G, XM_017013337.1:c.498T>G, XR_001745514.2:n.540T>G, XR_001745514.1:n.538T>G, XR_001745517.2:n.540T>G, XR_001745517.1:n.538T>G, XM_017013338.2:c.498T>G, XM_017013338.1:c.498T>G, XM_017013339.2:c.498T>G, XM_017013339.1:c.498T>G, XM_017013341.2:c.498T>G, XM_017013341.1:c.498T>G, XM_024447133.2:c.498T>G, XM_024447133.1:c.498T>G, XM_024447134.2:c.498T>G, XM_024447134.1:c.498T>G, XM_024447135.2:c.498T>G, XM_024447135.1:c.498T>G, XM_017013343.2:c.498T>G, XM_017013343.1:c.498T>G, XM_047421706.1:c.2T>G, XR_007060729.1:n.540T>G, XM_047421707.1:c.498T>G, XM_047421708.1:c.498T>G, XM_047421709.1:c.498T>G, XP_006716396.1:p.Tyr166Ter, NP_859074.1:p.Tyr166Ter, XP_005273534.1:p.Tyr166Ter, XP_006716391.1:p.Tyr166Ter, XP_006716393.1:p.Tyr166Ter, XP_011542810.1:p.Tyr166Ter, NP_001336739.1:p.Tyr166Ter, XP_016868825.1:p.Tyr166Ter, XP_016868826.1:p.Tyr166Ter, XP_016868827.1:p.Tyr166Ter, XP_016868828.1:p.Tyr166Ter, XP_016868830.1:p.Tyr166Ter, XP_024302901.1:p.Tyr166Ter, XP_024302902.1:p.Tyr166Ter, XP_024302903.1:p.Tyr166Ter, XP_016868832.1:p.Tyr166Ter, XP_047277662.1:p.Met1Arg, XP_047277663.1:p.Tyr166Ter, XP_047277664.1:p.Tyr166Ter, XP_047277665.1:p.Tyr166Ter

                                    18.

                                    rs1475190512 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      8:17027551 (GRCh38)
                                      8:16885060 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:17027550:C:A
                                      Gene:
                                      MICU3 (Varview)
                                      Functional Consequence:
                                      missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000008.11:g.17027551C>A, NC_000008.10:g.16885060C>A, XM_006716333.4:c.272C>A, XM_006716333.3:c.272C>A, XM_006716333.2:c.272C>A, XM_006716333.1:c.272C>A, XR_001745515.3:n.314C>A, XR_001745515.2:n.312C>A, XR_001745515.1:n.312C>A, NM_181723.3:c.272C>A, NM_181723.2:c.272C>A, XM_005273477.3:c.272C>A, XM_005273477.2:c.272C>A, XM_005273477.1:c.272C>A, XM_006716328.3:c.272C>A, XM_006716328.2:c.272C>A, XM_006716328.1:c.272C>A, XM_006716330.3:c.272C>A, XM_006716330.2:c.272C>A, XM_006716330.1:c.272C>A, XM_011544508.3:c.272C>A, XM_011544508.2:c.272C>A, XM_011544508.1:c.272C>A, XR_949390.3:n.314C>A, XR_949390.2:n.312C>A, XR_949390.1:n.308C>A, NR_146233.2:n.314C>A, NR_146233.1:n.314C>A, NM_001349810.2:c.272C>A, NM_001349810.1:c.272C>A, XM_017013336.2:c.272C>A, XM_017013336.1:c.272C>A, XR_001745516.2:n.314C>A, XR_001745516.1:n.312C>A, XM_017013337.2:c.272C>A, XM_017013337.1:c.272C>A, XR_001745514.2:n.314C>A, XR_001745514.1:n.312C>A, XR_001745517.2:n.314C>A, XR_001745517.1:n.312C>A, XM_017013338.2:c.272C>A, XM_017013338.1:c.272C>A, XM_017013339.2:c.272C>A, XM_017013339.1:c.272C>A, XM_017013341.2:c.272C>A, XM_017013341.1:c.272C>A, XM_024447133.2:c.272C>A, XM_024447133.1:c.272C>A, XM_024447134.2:c.272C>A, XM_024447134.1:c.272C>A, XM_024447135.2:c.272C>A, XM_024447135.1:c.272C>A, XM_017013343.2:c.272C>A, XM_017013343.1:c.272C>A, XR_007060729.1:n.314C>A, XM_047421707.1:c.272C>A, XM_047421708.1:c.272C>A, XM_047421709.1:c.272C>A, XP_006716396.1:p.Ala91Asp, NP_859074.1:p.Ala91Asp, XP_005273534.1:p.Ala91Asp, XP_006716391.1:p.Ala91Asp, XP_006716393.1:p.Ala91Asp, XP_011542810.1:p.Ala91Asp, NP_001336739.1:p.Ala91Asp, XP_016868825.1:p.Ala91Asp, XP_016868826.1:p.Ala91Asp, XP_016868827.1:p.Ala91Asp, XP_016868828.1:p.Ala91Asp, XP_016868830.1:p.Ala91Asp, XP_024302901.1:p.Ala91Asp, XP_024302902.1:p.Ala91Asp, XP_024302903.1:p.Ala91Asp, XP_016868832.1:p.Ala91Asp, XP_047277663.1:p.Ala91Asp, XP_047277664.1:p.Ala91Asp, XP_047277665.1:p.Ala91Asp

                                      19.

                                      rs1474915602 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        8:17086999 (GRCh38)
                                        8:16944508 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:17086998:A:T
                                        Gene:
                                        MICU3 (Varview)
                                        Functional Consequence:
                                        missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000008.11:g.17086999A>T, NC_000008.10:g.16944508A>T, XM_006716333.4:c.813A>T, XM_006716333.3:c.813A>T, XM_006716333.2:c.813A>T, XM_006716333.1:c.813A>T, XR_001745515.3:n.855A>T, XR_001745515.2:n.853A>T, XR_001745515.1:n.853A>T, NM_181723.3:c.813A>T, NM_181723.2:c.813A>T, XM_005273477.3:c.813A>T, XM_005273477.2:c.813A>T, XM_005273477.1:c.813A>T, XM_006716328.3:c.813A>T, XM_006716328.2:c.813A>T, XM_006716328.1:c.813A>T, XM_006716330.3:c.813A>T, XM_006716330.2:c.813A>T, XM_006716330.1:c.813A>T, XM_011544508.3:c.813A>T, XM_011544508.2:c.813A>T, XM_011544508.1:c.813A>T, XR_949390.3:n.855A>T, XR_949390.2:n.853A>T, XR_949390.1:n.849A>T, NR_146233.2:n.855A>T, NR_146233.1:n.855A>T, NM_001349810.2:c.795A>T, NM_001349810.1:c.795A>T, XM_017013336.2:c.795A>T, XM_017013336.1:c.795A>T, XR_001745516.2:n.855A>T, XR_001745516.1:n.853A>T, XM_017013337.2:c.813A>T, XM_017013337.1:c.813A>T, XR_001745514.2:n.855A>T, XR_001745514.1:n.853A>T, XR_001745517.2:n.855A>T, XR_001745517.1:n.853A>T, XM_017013338.2:c.813A>T, XM_017013338.1:c.813A>T, XM_017013339.2:c.813A>T, XM_017013339.1:c.813A>T, XM_017013341.2:c.813A>T, XM_017013341.1:c.813A>T, XM_024447133.2:c.813A>T, XM_024447133.1:c.813A>T, XM_024447134.2:c.813A>T, XM_024447134.1:c.813A>T, XM_024447135.2:c.813A>T, XM_024447135.1:c.813A>T, XM_017013343.2:c.813A>T, XM_017013343.1:c.813A>T, XM_047421706.1:c.285A>T, XR_007060729.1:n.855A>T, XM_047421707.1:c.813A>T, XM_047421708.1:c.813A>T, XM_047421709.1:c.813A>T, XP_006716396.1:p.Arg271Ser, NP_859074.1:p.Arg271Ser, XP_005273534.1:p.Arg271Ser, XP_006716391.1:p.Arg271Ser, XP_006716393.1:p.Arg271Ser, XP_011542810.1:p.Arg271Ser, NP_001336739.1:p.Arg265Ser, XP_016868825.1:p.Arg265Ser, XP_016868826.1:p.Arg271Ser, XP_016868827.1:p.Arg271Ser, XP_016868828.1:p.Arg271Ser, XP_016868830.1:p.Arg271Ser, XP_024302901.1:p.Arg271Ser, XP_024302902.1:p.Arg271Ser, XP_024302903.1:p.Arg271Ser, XP_016868832.1:p.Arg271Ser, XP_047277662.1:p.Arg95Ser, XP_047277663.1:p.Arg271Ser, XP_047277664.1:p.Arg271Ser, XP_047277665.1:p.Arg271Ser

                                        20.

                                        rs1474612979 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          8:17116534 (GRCh38)
                                          8:16974043 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:17116533:A:G
                                          Gene:
                                          MICU3 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000005/1 (GnomAD_exomes)
                                          HGVS:

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