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Items: 1 to 20 of 9008

1.

rs1491527537 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    13:21314472 (GRCh38)
    13:21888611 (GRCh37)
    Canonical SPDI:
    NC_000013.11:21314469:CTCT:CT
    Gene:
    MIPEPP3 (Varview), LINC00539 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    CTCT=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491518432 has merged into rs1555247882 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GT>-,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
      Chromosome:
      13:21323196 (GRCh38)
      13:21897335 (GRCh37)
      Canonical SPDI:
      NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:21323183:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
      Gene:
      MIPEPP3 (Varview), LINC00539 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
      -=0.001519/402 (TOPMED)
      HGVS:
      3.

      rs1491448202 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GT,GTGTGT,GTGTGTGT [Show Flanks]
        Chromosome:
        13:21314470 (GRCh38)
        13:21888610 (GRCh37)
        Canonical SPDI:
        NC_000013.11:21314470:T:TGT,NC_000013.11:21314470:T:TGTGTGT,NC_000013.11:21314470:T:TGTGTGTGT
        Gene:
        MIPEPP3 (Varview), LINC00539 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TGTGTGT=0./0 (ALFA)
        TGTGTGTG=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1491423225 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->CGTGTGTGTG [Show Flanks]
          Chromosome:
          13:21314473 (GRCh38)
          13:21888613 (GRCh37)
          Canonical SPDI:
          NC_000013.11:21314473:GTGTGTGTG:GTGTGTGTGCGTGTGTGTG
          Gene:
          MIPEPP3 (Varview), LINC00539 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          GTGTGTGTGCGTGTGTGTG=0./0 (ALFA)
          HGVS:
          5.

          rs1491334402 has merged into rs113329720 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAG [Show Flanks]
            Chromosome:
            13:21323177 (GRCh38)
            13:21897316 (GRCh37)
            Canonical SPDI:
            NC_000013.11:21323162:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAG,NC_000013.11:21323162:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAG,NC_000013.11:21323162:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAG,NC_000013.11:21323162:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAG,NC_000013.11:21323162:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAG,NC_000013.11:21323162:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000013.11:21323162:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000013.11:21323162:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000013.11:21323162:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
            Gene:
            MIPEPP3 (Varview), LINC00539 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AGAGAGAGAGAGAGAG=0./0 (ALFA)
            AGAGAGAGAGAG=0.000008/2 (TOPMED)
            AG=0.125/5 (GENOME_DK)
            AG=0.305/183 (NorthernSweden)
            -=0.370208/1854 (1000Genomes)
            -=0.391509/83 (Vietnamese)
            HGVS:
            6.

            rs1491255233 [Homo sapiens]
              Variant type:
              SNV:
              Alleles:
              ->GG
              Chromosome:
              no mapping
              Canonical SPDI:
              7.

              rs1491237785 has merged into rs149836651 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
                Chromosome:
                13:21314489 (GRCh38)
                13:21888628 (GRCh37)
                Canonical SPDI:
                NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:21314472:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
                Gene:
                MIPEPP3 (Varview), LINC00539 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TGTGTGTGTGTGTGTG=0./0 (ALFA)
                -=0.2985/1495 (1000Genomes)
                HGVS:
                NC_000013.11:g.21314473TG[8], NC_000013.11:g.21314473TG[9], NC_000013.11:g.21314473TG[10], NC_000013.11:g.21314473TG[11], NC_000013.11:g.21314473TG[12], NC_000013.11:g.21314473TG[13], NC_000013.11:g.21314473TG[14], NC_000013.11:g.21314473TG[15], NC_000013.11:g.21314473TG[16], NC_000013.11:g.21314473TG[17], NC_000013.11:g.21314473TG[19], NC_000013.11:g.21314473TG[20], NC_000013.11:g.21314473TG[21], NC_000013.11:g.21314473TG[22], NC_000013.11:g.21314473TG[23], NC_000013.11:g.21314473TG[24], NC_000013.11:g.21314473TG[25], NC_000013.11:g.21314473TG[26], NC_000013.11:g.21314473TG[27], NC_000013.11:g.21314473TG[28], NC_000013.11:g.21314473TG[29], NC_000013.10:g.21888612TG[8], NC_000013.10:g.21888612TG[9], NC_000013.10:g.21888612TG[10], NC_000013.10:g.21888612TG[11], NC_000013.10:g.21888612TG[12], NC_000013.10:g.21888612TG[13], NC_000013.10:g.21888612TG[14], NC_000013.10:g.21888612TG[15], NC_000013.10:g.21888612TG[16], NC_000013.10:g.21888612TG[17], NC_000013.10:g.21888612TG[19], NC_000013.10:g.21888612TG[20], NC_000013.10:g.21888612TG[21], NC_000013.10:g.21888612TG[22], NC_000013.10:g.21888612TG[23], NC_000013.10:g.21888612TG[24], NC_000013.10:g.21888612TG[25], NC_000013.10:g.21888612TG[26], NC_000013.10:g.21888612TG[27], NC_000013.10:g.21888612TG[28], NC_000013.10:g.21888612TG[29]
                8.

                rs1491051946 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  GG>- [Show Flanks]
                  Chromosome:
                  13:21314508 (GRCh38)
                  13:21888647 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:21314507:GG:
                  Gene:
                  MIPEPP3 (Varview), LINC00539 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1491021271 has merged into rs57244112 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
                    Chromosome:
                    13:21310330 (GRCh38)
                    13:21884469 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:21310317:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:21310317:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:21310317:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:21310317:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:21310317:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:21310317:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
                    Gene:
                    MIPEPP3 (Varview), LINC00539 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAAAA=0./0 (ALFA)
                    -=0.3059/1532 (1000Genomes)
                    -=0.3389/202 (NorthernSweden)
                    HGVS:
                    10.

                    rs1491007393 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      TG>- [Show Flanks]
                      Chromosome:
                      13:21316951 (GRCh38)
                      13:21891090 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:21316950:TG:
                      Gene:
                      MIPEPP3 (Varview), LINC00539 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1490923835 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        13:21341092 (GRCh38)
                        13:21915231 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:21341091:A:G
                        Gene:
                        MIPEPP3 (Varview), LINC00539 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490906548 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          13:21308560 (GRCh38)
                          13:21882699 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:21308559:G:A
                          Gene:
                          MIPEPP3 (Varview), LINC00539 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000011/3 (TOPMED)
                          A=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1490888155 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            13:21341917 (GRCh38)
                            13:21916056 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:21341916:C:G
                            Gene:
                            MIPEPP3 (Varview), LINC00539 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490762018 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              13:21323376 (GRCh38)
                              13:21897515 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:21323375:C:G
                              Gene:
                              MIPEPP3 (Varview), LINC00539 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000071/1 (ALFA)
                              G=0.000076/20 (TOPMED)
                              G=0.000078/11 (GnomAD)
                              HGVS:
                              15.

                              rs1490647730 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                13:21326794 (GRCh38)
                                13:21900933 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:21326793:T:G
                                Gene:
                                MIPEPP3 (Varview), LINC00539 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490635502 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  13:21317736 (GRCh38)
                                  13:21891875 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:21317735:T:C
                                  Gene:
                                  GRK6P1 (Varview), MIPEPP3 (Varview), LINC00539 (Varview)
                                  Functional Consequence:
                                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490577454 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    13:21332156 (GRCh38)
                                    13:21906295 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:21332155:T:C
                                    Gene:
                                    MIPEPP3 (Varview), LINC00539 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490561746 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      13:21333276 (GRCh38)
                                      13:21907415 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:21333275:A:G
                                      Gene:
                                      MIPEPP3 (Varview), LINC00539 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490454083 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CCT>- [Show Flanks]
                                        Chromosome:
                                        13:21344062 (GRCh38)
                                        13:21918201 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:21344053:CTCCTCCTCCT:CTCCTCCT
                                        Gene:
                                        MIPEPP3 (Varview), LINC00539 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        CTCCTCCT=0./0 (ALFA)
                                        -=0.000017/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490422829 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          13:21309282 (GRCh38)
                                          13:21883421 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:21309281:G:A
                                          Gene:
                                          MIPEPP3 (Varview), LINC00539 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000019/5 (TOPMED)
                                          HGVS:

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