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Items: 1 to 20 of 467

1.

rs1487594958 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    2:55175976 (GRCh38)
    2:55403112 (GRCh37)
    Canonical SPDI:
    NC_000002.12:55175975:T:G
    Gene:
    CLHC1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.55175976T>G, NC_000002.11:g.55403112T>G, NG_033063.1:g.61588A>C, NM_152385.4:c.1575A>C, NM_152385.3:c.1575A>C, NM_152385.2:c.1575A>C, NM_001353781.2:c.1209A>C, NM_001353781.1:c.1209A>C, NM_001353783.2:c.1155A>C, NM_001353783.1:c.1155A>C, NM_001353787.2:c.1011A>C, NM_001353787.1:c.1011A>C, NM_001353784.2:c.1209A>C, NM_001353784.1:c.1209A>C, NM_001353786.2:c.1011A>C, NM_001353786.1:c.1011A>C, NR_148540.2:n.1968A>C, NR_148540.1:n.2042A>C, NM_001353782.2:c.1155A>C, NM_001353782.1:c.1155A>C, NM_001353779.2:c.1011A>C, NM_001353779.1:c.1011A>C, NM_001353785.2:c.957A>C, NM_001353785.1:c.957A>C, NM_001353780.2:c.1377A>C, NM_001353780.1:c.1377A>C, NR_148541.2:n.1671A>C, NR_148541.1:n.1745A>C, NM_001135598.2:c.1209A>C, NM_001135598.1:c.1209A>C, NR_148543.2:n.886A>C, NR_148543.1:n.960A>C, NR_148538.2:n.692A>C, NR_148538.1:n.766A>C, NR_148539.2:n.424A>C, NR_148539.1:n.498A>C, NR_148542.2:n.249A>C, NR_148542.1:n.323A>C, NP_689598.2:p.Glu525Asp, NP_001340710.1:p.Glu403Asp, NP_001340712.1:p.Glu385Asp, NP_001340716.1:p.Glu337Asp, NP_001340713.1:p.Glu403Asp, NP_001340715.1:p.Glu337Asp, NP_001340711.1:p.Glu385Asp, NP_001340708.1:p.Glu337Asp, NP_001340714.1:p.Glu319Asp, NP_001340709.1:p.Glu459Asp, NP_001129070.1:p.Glu403Asp

    2.

    rs1485737386 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      2:55175960 (GRCh38)
      2:55403096 (GRCh37)
      Canonical SPDI:
      NC_000002.12:55175959:C:A
      Gene:
      CLHC1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000002.12:g.55175960C>A, NC_000002.11:g.55403096C>A, NG_033063.1:g.61604G>T, NM_152385.4:c.1591G>T, NM_152385.3:c.1591G>T, NM_152385.2:c.1591G>T, NM_001353781.2:c.1225G>T, NM_001353781.1:c.1225G>T, NM_001353783.2:c.1171G>T, NM_001353783.1:c.1171G>T, NM_001353787.2:c.1027G>T, NM_001353787.1:c.1027G>T, NM_001353784.2:c.1225G>T, NM_001353784.1:c.1225G>T, NM_001353786.2:c.1027G>T, NM_001353786.1:c.1027G>T, NR_148540.2:n.1984G>T, NR_148540.1:n.2058G>T, NM_001353782.2:c.1171G>T, NM_001353782.1:c.1171G>T, NM_001353779.2:c.1027G>T, NM_001353779.1:c.1027G>T, NM_001353785.2:c.973G>T, NM_001353785.1:c.973G>T, NM_001353780.2:c.1393G>T, NM_001353780.1:c.1393G>T, NR_148541.2:n.1687G>T, NR_148541.1:n.1761G>T, NM_001135598.2:c.1225G>T, NM_001135598.1:c.1225G>T, NR_148543.2:n.902G>T, NR_148543.1:n.976G>T, NR_148538.2:n.708G>T, NR_148538.1:n.782G>T, NR_148539.2:n.440G>T, NR_148539.1:n.514G>T, NR_148542.2:n.265G>T, NR_148542.1:n.339G>T, NP_689598.2:p.Asp531Tyr, NP_001340710.1:p.Asp409Tyr, NP_001340712.1:p.Asp391Tyr, NP_001340716.1:p.Asp343Tyr, NP_001340713.1:p.Asp409Tyr, NP_001340715.1:p.Asp343Tyr, NP_001340711.1:p.Asp391Tyr, NP_001340708.1:p.Asp343Tyr, NP_001340714.1:p.Asp325Tyr, NP_001340709.1:p.Asp465Tyr, NP_001129070.1:p.Asp409Tyr

      3.

      rs1483975364 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        2:55209714 (GRCh38)
        2:55436850 (GRCh37)
        Canonical SPDI:
        NC_000002.12:55209713:C:T
        Gene:
        CLHC1 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000014/2 (GnomAD)
        T=0.000019/5 (TOPMED)
        HGVS:
        NC_000002.12:g.55209714C>T, NC_000002.11:g.55436850C>T, NG_033063.1:g.27850G>A, NM_152385.4:c.617G>A, NM_152385.3:c.617G>A, NM_152385.2:c.617G>A, NM_001353781.2:c.251G>A, NM_001353781.1:c.251G>A, NM_001353783.2:c.197G>A, NM_001353783.1:c.197G>A, NM_001353787.2:c.251G>A, NM_001353787.1:c.251G>A, NM_001353784.2:c.251G>A, NM_001353784.1:c.251G>A, NM_001353786.2:c.251G>A, NM_001353786.1:c.251G>A, NM_001353782.2:c.197G>A, NM_001353782.1:c.197G>A, NM_001353779.2:c.251G>A, NM_001353779.1:c.251G>A, NM_001353785.2:c.197G>A, NM_001353785.1:c.197G>A, NM_001353780.2:c.617G>A, NM_001353780.1:c.617G>A, NM_001135598.2:c.251G>A, NM_001135598.1:c.251G>A, NR_148538.2:n.310G>A, NR_148538.1:n.384G>A, NP_689598.2:p.Arg206Lys, NP_001340710.1:p.Arg84Lys, NP_001340712.1:p.Arg66Lys, NP_001340716.1:p.Arg84Lys, NP_001340713.1:p.Arg84Lys, NP_001340715.1:p.Arg84Lys, NP_001340711.1:p.Arg66Lys, NP_001340708.1:p.Arg84Lys, NP_001340714.1:p.Arg66Lys, NP_001340709.1:p.Arg206Lys, NP_001129070.1:p.Arg84Lys

        4.

        rs1483793418 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:55212701 (GRCh38)
          2:55439837 (GRCh37)
          Canonical SPDI:
          NC_000002.12:55212700:G:A
          Gene:
          CLHC1 (Varview)
          Functional Consequence:
          synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1481637849 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            2:55181713 (GRCh38)
            2:55408849 (GRCh37)
            Canonical SPDI:
            NC_000002.12:55181712:T:C
            Gene:
            CLHC1 (Varview)
            Functional Consequence:
            synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000007/1 (GnomAD)
            C=0.000011/3 (TOPMED)
            HGVS:
            NC_000002.12:g.55181713T>C, NC_000002.11:g.55408849T>C, NG_033063.1:g.55851A>G, NM_152385.4:c.1038A>G, NM_152385.3:c.1038A>G, NM_152385.2:c.1038A>G, NM_001353781.2:c.672A>G, NM_001353781.1:c.672A>G, NM_001353783.2:c.618A>G, NM_001353783.1:c.618A>G, NM_001353787.2:c.474A>G, NM_001353787.1:c.474A>G, NM_001353784.2:c.672A>G, NM_001353784.1:c.672A>G, NM_001353786.2:c.474A>G, NM_001353786.1:c.474A>G, NR_148540.2:n.1431A>G, NR_148540.1:n.1505A>G, NM_001353782.2:c.618A>G, NM_001353782.1:c.618A>G, NM_001353779.2:c.474A>G, NM_001353779.1:c.474A>G, NM_001353785.2:c.420A>G, NM_001353785.1:c.420A>G, NM_001353780.2:c.840A>G, NM_001353780.1:c.840A>G, NR_148541.2:n.1134A>G, NR_148541.1:n.1208A>G, NM_001135598.2:c.672A>G, NM_001135598.1:c.672A>G, NR_148543.2:n.349A>G, NR_148543.1:n.423A>G, NR_148539.2:n.90A>G, NR_148539.1:n.164A>G

            6.

            rs1479455672 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              2:55180645 (GRCh38)
              2:55407781 (GRCh37)
              Canonical SPDI:
              NC_000002.12:55180644:C:T
              Gene:
              CLHC1 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000047/1 (ALFA)
              T=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.55180645C>T, NC_000002.11:g.55407781C>T, NG_033063.1:g.56919G>A, NM_152385.4:c.1249G>A, NM_152385.3:c.1249G>A, NM_152385.2:c.1249G>A, NM_001353781.2:c.883G>A, NM_001353781.1:c.883G>A, NM_001353783.2:c.829G>A, NM_001353783.1:c.829G>A, NM_001353787.2:c.685G>A, NM_001353787.1:c.685G>A, NM_001353784.2:c.883G>A, NM_001353784.1:c.883G>A, NM_001353786.2:c.685G>A, NM_001353786.1:c.685G>A, NR_148540.2:n.1642G>A, NR_148540.1:n.1716G>A, NM_001353782.2:c.829G>A, NM_001353782.1:c.829G>A, NM_001353779.2:c.685G>A, NM_001353779.1:c.685G>A, NM_001353785.2:c.631G>A, NM_001353785.1:c.631G>A, NM_001353780.2:c.1051G>A, NM_001353780.1:c.1051G>A, NR_148541.2:n.1345G>A, NR_148541.1:n.1419G>A, NM_001135598.2:c.883G>A, NM_001135598.1:c.883G>A, NR_148543.2:n.560G>A, NR_148543.1:n.634G>A, NP_689598.2:p.Ala417Thr, NP_001340710.1:p.Ala295Thr, NP_001340712.1:p.Ala277Thr, NP_001340716.1:p.Ala229Thr, NP_001340713.1:p.Ala295Thr, NP_001340715.1:p.Ala229Thr, NP_001340711.1:p.Ala277Thr, NP_001340708.1:p.Ala229Thr, NP_001340714.1:p.Ala211Thr, NP_001340709.1:p.Ala351Thr, NP_001129070.1:p.Ala295Thr

              7.

              rs1477405229 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                2:55177746 (GRCh38)
                2:55404882 (GRCh37)
                Canonical SPDI:
                NC_000002.12:55177745:C:G
                Gene:
                CLHC1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.55177746C>G, NC_000002.11:g.55404882C>G, NG_033063.1:g.59818G>C, NM_152385.4:c.1420G>C, NM_152385.3:c.1420G>C, NM_152385.2:c.1420G>C, NM_001353781.2:c.1054G>C, NM_001353781.1:c.1054G>C, NM_001353783.2:c.1000G>C, NM_001353783.1:c.1000G>C, NM_001353787.2:c.856G>C, NM_001353787.1:c.856G>C, NM_001353784.2:c.1054G>C, NM_001353784.1:c.1054G>C, NM_001353786.2:c.856G>C, NM_001353786.1:c.856G>C, NR_148540.2:n.1813G>C, NR_148540.1:n.1887G>C, NM_001353782.2:c.1000G>C, NM_001353782.1:c.1000G>C, NM_001353779.2:c.856G>C, NM_001353779.1:c.856G>C, NM_001353785.2:c.802G>C, NM_001353785.1:c.802G>C, NM_001353780.2:c.1222G>C, NM_001353780.1:c.1222G>C, NR_148541.2:n.1516G>C, NR_148541.1:n.1590G>C, NM_001135598.2:c.1054G>C, NM_001135598.1:c.1054G>C, NR_148543.2:n.731G>C, NR_148543.1:n.805G>C, NR_148538.2:n.537G>C, NR_148538.1:n.611G>C, NR_148539.2:n.269G>C, NR_148539.1:n.343G>C, NR_148542.2:n.94G>C, NR_148542.1:n.168G>C, NP_689598.2:p.Val474Leu, NP_001340710.1:p.Val352Leu, NP_001340712.1:p.Val334Leu, NP_001340716.1:p.Val286Leu, NP_001340713.1:p.Val352Leu, NP_001340715.1:p.Val286Leu, NP_001340711.1:p.Val334Leu, NP_001340708.1:p.Val286Leu, NP_001340714.1:p.Val268Leu, NP_001340709.1:p.Val408Leu, NP_001129070.1:p.Val352Leu

                8.

                rs1477404135 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  2:55177608 (GRCh38)
                  2:55404744 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:55177607:C:A,NC_000002.12:55177607:C:T
                  Gene:
                  CLHC1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000002.12:g.55177608C>A, NC_000002.12:g.55177608C>T, NC_000002.11:g.55404744C>A, NC_000002.11:g.55404744C>T, NG_033063.1:g.59956G>T, NG_033063.1:g.59956G>A, NM_152385.4:c.1558G>T, NM_152385.4:c.1558G>A, NM_152385.3:c.1558G>T, NM_152385.3:c.1558G>A, NM_152385.2:c.1558G>T, NM_152385.2:c.1558G>A, NM_001353781.2:c.1192G>T, NM_001353781.2:c.1192G>A, NM_001353781.1:c.1192G>T, NM_001353781.1:c.1192G>A, NM_001353783.2:c.1138G>T, NM_001353783.2:c.1138G>A, NM_001353783.1:c.1138G>T, NM_001353783.1:c.1138G>A, NM_001353787.2:c.994G>T, NM_001353787.2:c.994G>A, NM_001353787.1:c.994G>T, NM_001353787.1:c.994G>A, NM_001353784.2:c.1192G>T, NM_001353784.2:c.1192G>A, NM_001353784.1:c.1192G>T, NM_001353784.1:c.1192G>A, NM_001353786.2:c.994G>T, NM_001353786.2:c.994G>A, NM_001353786.1:c.994G>T, NM_001353786.1:c.994G>A, NR_148540.2:n.1951G>T, NR_148540.2:n.1951G>A, NR_148540.1:n.2025G>T, NR_148540.1:n.2025G>A, NM_001353782.2:c.1138G>T, NM_001353782.2:c.1138G>A, NM_001353782.1:c.1138G>T, NM_001353782.1:c.1138G>A, NM_001353779.2:c.994G>T, NM_001353779.2:c.994G>A, NM_001353779.1:c.994G>T, NM_001353779.1:c.994G>A, NM_001353785.2:c.940G>T, NM_001353785.2:c.940G>A, NM_001353785.1:c.940G>T, NM_001353785.1:c.940G>A, NM_001353780.2:c.1360G>T, NM_001353780.2:c.1360G>A, NM_001353780.1:c.1360G>T, NM_001353780.1:c.1360G>A, NR_148541.2:n.1654G>T, NR_148541.2:n.1654G>A, NR_148541.1:n.1728G>T, NR_148541.1:n.1728G>A, NM_001135598.2:c.1192G>T, NM_001135598.2:c.1192G>A, NM_001135598.1:c.1192G>T, NM_001135598.1:c.1192G>A, NR_148543.2:n.869G>T, NR_148543.2:n.869G>A, NR_148543.1:n.943G>T, NR_148543.1:n.943G>A, NR_148538.2:n.675G>T, NR_148538.2:n.675G>A, NR_148538.1:n.749G>T, NR_148538.1:n.749G>A, NR_148539.2:n.407G>T, NR_148539.2:n.407G>A, NR_148539.1:n.481G>T, NR_148539.1:n.481G>A, NR_148542.2:n.232G>T, NR_148542.2:n.232G>A, NR_148542.1:n.306G>T, NR_148542.1:n.306G>A, NP_689598.2:p.Gly520Trp, NP_689598.2:p.Gly520Arg, NP_001340710.1:p.Gly398Trp, NP_001340710.1:p.Gly398Arg, NP_001340712.1:p.Gly380Trp, NP_001340712.1:p.Gly380Arg, NP_001340716.1:p.Gly332Trp, NP_001340716.1:p.Gly332Arg, NP_001340713.1:p.Gly398Trp, NP_001340713.1:p.Gly398Arg, NP_001340715.1:p.Gly332Trp, NP_001340715.1:p.Gly332Arg, NP_001340711.1:p.Gly380Trp, NP_001340711.1:p.Gly380Arg, NP_001340708.1:p.Gly332Trp, NP_001340708.1:p.Gly332Arg, NP_001340714.1:p.Gly314Trp, NP_001340714.1:p.Gly314Arg, NP_001340709.1:p.Gly454Trp, NP_001340709.1:p.Gly454Arg, NP_001129070.1:p.Gly398Trp, NP_001129070.1:p.Gly398Arg

                  9.

                  rs1474619748 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    2:55209710 (GRCh38)
                    2:55436846 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:55209709:C:G
                    Gene:
                    CLHC1 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000031/1 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000002.12:g.55209710C>G, NC_000002.11:g.55436846C>G, NG_033063.1:g.27854G>C, NM_152385.4:c.621G>C, NM_152385.3:c.621G>C, NM_152385.2:c.621G>C, NM_001353781.2:c.255G>C, NM_001353781.1:c.255G>C, NM_001353783.2:c.201G>C, NM_001353783.1:c.201G>C, NM_001353787.2:c.255G>C, NM_001353787.1:c.255G>C, NM_001353784.2:c.255G>C, NM_001353784.1:c.255G>C, NM_001353786.2:c.255G>C, NM_001353786.1:c.255G>C, NM_001353782.2:c.201G>C, NM_001353782.1:c.201G>C, NM_001353779.2:c.255G>C, NM_001353779.1:c.255G>C, NM_001353785.2:c.201G>C, NM_001353785.1:c.201G>C, NM_001353780.2:c.621G>C, NM_001353780.1:c.621G>C, NM_001135598.2:c.255G>C, NM_001135598.1:c.255G>C, NR_148538.2:n.314G>C, NR_148538.1:n.388G>C, NP_689598.2:p.Lys207Asn, NP_001340710.1:p.Lys85Asn, NP_001340712.1:p.Lys67Asn, NP_001340716.1:p.Lys85Asn, NP_001340713.1:p.Lys85Asn, NP_001340715.1:p.Lys85Asn, NP_001340711.1:p.Lys67Asn, NP_001340708.1:p.Lys85Asn, NP_001340714.1:p.Lys67Asn, NP_001340709.1:p.Lys207Asn, NP_001129070.1:p.Lys85Asn

                    10.

                    rs1471229310 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      2:55177638 (GRCh38)
                      2:55404774 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:55177637:T:C
                      Gene:
                      CLHC1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000002.12:g.55177638T>C, NC_000002.11:g.55404774T>C, NG_033063.1:g.59926A>G, NM_152385.4:c.1528A>G, NM_152385.3:c.1528A>G, NM_152385.2:c.1528A>G, NM_001353781.2:c.1162A>G, NM_001353781.1:c.1162A>G, NM_001353783.2:c.1108A>G, NM_001353783.1:c.1108A>G, NM_001353787.2:c.964A>G, NM_001353787.1:c.964A>G, NM_001353784.2:c.1162A>G, NM_001353784.1:c.1162A>G, NM_001353786.2:c.964A>G, NM_001353786.1:c.964A>G, NR_148540.2:n.1921A>G, NR_148540.1:n.1995A>G, NM_001353782.2:c.1108A>G, NM_001353782.1:c.1108A>G, NM_001353779.2:c.964A>G, NM_001353779.1:c.964A>G, NM_001353785.2:c.910A>G, NM_001353785.1:c.910A>G, NM_001353780.2:c.1330A>G, NM_001353780.1:c.1330A>G, NR_148541.2:n.1624A>G, NR_148541.1:n.1698A>G, NM_001135598.2:c.1162A>G, NM_001135598.1:c.1162A>G, NR_148543.2:n.839A>G, NR_148543.1:n.913A>G, NR_148538.2:n.645A>G, NR_148538.1:n.719A>G, NR_148539.2:n.377A>G, NR_148539.1:n.451A>G, NR_148542.2:n.202A>G, NR_148542.1:n.276A>G, NP_689598.2:p.Ile510Val, NP_001340710.1:p.Ile388Val, NP_001340712.1:p.Ile370Val, NP_001340716.1:p.Ile322Val, NP_001340713.1:p.Ile388Val, NP_001340715.1:p.Ile322Val, NP_001340711.1:p.Ile370Val, NP_001340708.1:p.Ile322Val, NP_001340714.1:p.Ile304Val, NP_001340709.1:p.Ile444Val, NP_001129070.1:p.Ile388Val

                      11.

                      rs1469147865 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        2:55177623 (GRCh38)
                        2:55404759 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:55177622:C:A
                        Gene:
                        CLHC1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,stop_gained,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000002.12:g.55177623C>A, NC_000002.11:g.55404759C>A, NG_033063.1:g.59941G>T, NM_152385.4:c.1543G>T, NM_152385.3:c.1543G>T, NM_152385.2:c.1543G>T, NM_001353781.2:c.1177G>T, NM_001353781.1:c.1177G>T, NM_001353783.2:c.1123G>T, NM_001353783.1:c.1123G>T, NM_001353787.2:c.979G>T, NM_001353787.1:c.979G>T, NM_001353784.2:c.1177G>T, NM_001353784.1:c.1177G>T, NM_001353786.2:c.979G>T, NM_001353786.1:c.979G>T, NR_148540.2:n.1936G>T, NR_148540.1:n.2010G>T, NM_001353782.2:c.1123G>T, NM_001353782.1:c.1123G>T, NM_001353779.2:c.979G>T, NM_001353779.1:c.979G>T, NM_001353785.2:c.925G>T, NM_001353785.1:c.925G>T, NM_001353780.2:c.1345G>T, NM_001353780.1:c.1345G>T, NR_148541.2:n.1639G>T, NR_148541.1:n.1713G>T, NM_001135598.2:c.1177G>T, NM_001135598.1:c.1177G>T, NR_148543.2:n.854G>T, NR_148543.1:n.928G>T, NR_148538.2:n.660G>T, NR_148538.1:n.734G>T, NR_148539.2:n.392G>T, NR_148539.1:n.466G>T, NR_148542.2:n.217G>T, NR_148542.1:n.291G>T, NP_689598.2:p.Glu515Ter, NP_001340710.1:p.Glu393Ter, NP_001340712.1:p.Glu375Ter, NP_001340716.1:p.Glu327Ter, NP_001340713.1:p.Glu393Ter, NP_001340715.1:p.Glu327Ter, NP_001340711.1:p.Glu375Ter, NP_001340708.1:p.Glu327Ter, NP_001340714.1:p.Glu309Ter, NP_001340709.1:p.Glu449Ter, NP_001129070.1:p.Glu393Ter

                        12.

                        rs1468286741 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          2:55181648 (GRCh38)
                          2:55408784 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:55181647:G:A
                          Gene:
                          CLHC1 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000007/1 (GnomAD)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000002.12:g.55181648G>A, NC_000002.11:g.55408784G>A, NG_033063.1:g.55916C>T, NM_152385.4:c.1103C>T, NM_152385.3:c.1103C>T, NM_152385.2:c.1103C>T, NM_001353781.2:c.737C>T, NM_001353781.1:c.737C>T, NM_001353783.2:c.683C>T, NM_001353783.1:c.683C>T, NM_001353787.2:c.539C>T, NM_001353787.1:c.539C>T, NM_001353784.2:c.737C>T, NM_001353784.1:c.737C>T, NM_001353786.2:c.539C>T, NM_001353786.1:c.539C>T, NR_148540.2:n.1496C>T, NR_148540.1:n.1570C>T, NM_001353782.2:c.683C>T, NM_001353782.1:c.683C>T, NM_001353779.2:c.539C>T, NM_001353779.1:c.539C>T, NM_001353785.2:c.485C>T, NM_001353785.1:c.485C>T, NM_001353780.2:c.905C>T, NM_001353780.1:c.905C>T, NR_148541.2:n.1199C>T, NR_148541.1:n.1273C>T, NM_001135598.2:c.737C>T, NM_001135598.1:c.737C>T, NR_148543.2:n.414C>T, NR_148543.1:n.488C>T, NR_148539.2:n.155C>T, NR_148539.1:n.229C>T, NP_689598.2:p.Ala368Val, NP_001340710.1:p.Ala246Val, NP_001340712.1:p.Ala228Val, NP_001340716.1:p.Ala180Val, NP_001340713.1:p.Ala246Val, NP_001340715.1:p.Ala180Val, NP_001340711.1:p.Ala228Val, NP_001340708.1:p.Ala180Val, NP_001340714.1:p.Ala162Val, NP_001340709.1:p.Ala302Val, NP_001129070.1:p.Ala246Val

                          13.

                          rs1467033176 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C,G [Show Flanks]
                            Chromosome:
                            2:55209421 (GRCh38)
                            2:55436557 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:55209420:T:C,NC_000002.12:55209420:T:G
                            Gene:
                            CLHC1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,intron_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            G=0.000035/1 (TOMMO)
                            HGVS:
                            NC_000002.12:g.55209421T>C, NC_000002.12:g.55209421T>G, NC_000002.11:g.55436557T>C, NC_000002.11:g.55436557T>G, NG_033063.1:g.28143A>G, NG_033063.1:g.28143A>C, NM_152385.4:c.797A>G, NM_152385.4:c.797A>C, NM_152385.3:c.797A>G, NM_152385.3:c.797A>C, NM_152385.2:c.797A>G, NM_152385.2:c.797A>C, NM_001353781.2:c.431A>G, NM_001353781.2:c.431A>C, NM_001353781.1:c.431A>G, NM_001353781.1:c.431A>C, NM_001353783.2:c.377A>G, NM_001353783.2:c.377A>C, NM_001353783.1:c.377A>G, NM_001353783.1:c.377A>C, NM_001353784.2:c.431A>G, NM_001353784.2:c.431A>C, NM_001353784.1:c.431A>G, NM_001353784.1:c.431A>C, NM_001353782.2:c.377A>G, NM_001353782.2:c.377A>C, NM_001353782.1:c.377A>G, NM_001353782.1:c.377A>C, NM_001135598.2:c.431A>G, NM_001135598.2:c.431A>C, NM_001135598.1:c.431A>G, NM_001135598.1:c.431A>C, NP_689598.2:p.Lys266Arg, NP_689598.2:p.Lys266Thr, NP_001340710.1:p.Lys144Arg, NP_001340710.1:p.Lys144Thr, NP_001340712.1:p.Lys126Arg, NP_001340712.1:p.Lys126Thr, NP_001340713.1:p.Lys144Arg, NP_001340713.1:p.Lys144Thr, NP_001340711.1:p.Lys126Arg, NP_001340711.1:p.Lys126Thr, NP_001129070.1:p.Lys144Arg, NP_001129070.1:p.Lys144Thr

                            14.

                            rs1466586328 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:55209788 (GRCh38)
                              2:55436924 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:55209787:T:C
                              Gene:
                              CLHC1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1465052757 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->AAAA [Show Flanks]
                                Chromosome:
                                2:55181685 (GRCh38)
                                2:55408822 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:55181685:AAA:AAAAAAA
                                Gene:
                                CLHC1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,frameshift_variant,intron_variant
                                HGVS:
                                NC_000002.12:g.55181688_55181689insAAAA, NC_000002.11:g.55408824_55408825insAAAA, NG_033063.1:g.55878_55879insTTTT, NM_152385.4:c.1065_1066insTTTT, NM_152385.3:c.1065_1066insTTTT, NM_152385.2:c.1065_1066insTTTT, NM_001353781.2:c.699_700insTTTT, NM_001353781.1:c.699_700insTTTT, NM_001353783.2:c.645_646insTTTT, NM_001353783.1:c.645_646insTTTT, NM_001353787.2:c.501_502insTTTT, NM_001353787.1:c.501_502insTTTT, NM_001353784.2:c.699_700insTTTT, NM_001353784.1:c.699_700insTTTT, NM_001353786.2:c.501_502insTTTT, NM_001353786.1:c.501_502insTTTT, NR_148540.2:n.1458_1459insTTTT, NR_148540.1:n.1532_1533insTTTT, NM_001353782.2:c.645_646insTTTT, NM_001353782.1:c.645_646insTTTT, NM_001353779.2:c.501_502insTTTT, NM_001353779.1:c.501_502insTTTT, NM_001353785.2:c.447_448insTTTT, NM_001353785.1:c.447_448insTTTT, NM_001353780.2:c.867_868insTTTT, NM_001353780.1:c.867_868insTTTT, NR_148541.2:n.1161_1162insTTTT, NR_148541.1:n.1235_1236insTTTT, NM_001135598.2:c.699_700insTTTT, NM_001135598.1:c.699_700insTTTT, NR_148543.2:n.376_377insTTTT, NR_148543.1:n.450_451insTTTT, NR_148539.2:n.117_118insTTTT, NR_148539.1:n.191_192insTTTT, NP_689598.2:p.Ile356fs, NP_001340710.1:p.Ile234fs, NP_001340712.1:p.Ile216fs, NP_001340716.1:p.Ile168fs, NP_001340713.1:p.Ile234fs, NP_001340715.1:p.Ile168fs, NP_001340711.1:p.Ile216fs, NP_001340708.1:p.Ile168fs, NP_001340714.1:p.Ile150fs, NP_001340709.1:p.Ile290fs, NP_001129070.1:p.Ile234fs

                                16.

                                rs1463336966 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  2:55175802 (GRCh38)
                                  2:55402938 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:55175801:A:T
                                  Gene:
                                  CLHC1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000066/1 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  T=0.000223/1 (Estonian)
                                  HGVS:
                                  NC_000002.12:g.55175802A>T, NC_000002.11:g.55402938A>T, NG_033063.1:g.61762T>A, NM_152385.4:c.1749T>A, NM_152385.3:c.1749T>A, NM_152385.2:c.1749T>A, NM_001353781.2:c.1383T>A, NM_001353781.1:c.1383T>A, NM_001353783.2:c.1329T>A, NM_001353783.1:c.1329T>A, NM_001353787.2:c.1185T>A, NM_001353787.1:c.1185T>A, NM_001353784.2:c.1383T>A, NM_001353784.1:c.1383T>A, NM_001353786.2:c.1185T>A, NM_001353786.1:c.1185T>A, NR_148540.2:n.2142T>A, NR_148540.1:n.2216T>A, NM_001353782.2:c.1329T>A, NM_001353782.1:c.1329T>A, NM_001353779.2:c.1185T>A, NM_001353779.1:c.1185T>A, NM_001353785.2:c.1131T>A, NM_001353785.1:c.1131T>A, NM_001353780.2:c.1551T>A, NM_001353780.1:c.1551T>A, NR_148541.2:n.1845T>A, NR_148541.1:n.1919T>A, NM_001135598.2:c.1383T>A, NM_001135598.1:c.1383T>A, NR_148543.2:n.1060T>A, NR_148543.1:n.1134T>A, NR_148538.2:n.866T>A, NR_148538.1:n.940T>A, NR_148539.2:n.598T>A, NR_148539.1:n.672T>A, NR_148542.2:n.423T>A, NR_148542.1:n.497T>A, NP_689598.2:p.His583Gln, NP_001340710.1:p.His461Gln, NP_001340712.1:p.His443Gln, NP_001340716.1:p.His395Gln, NP_001340713.1:p.His461Gln, NP_001340715.1:p.His395Gln, NP_001340711.1:p.His443Gln, NP_001340708.1:p.His395Gln, NP_001340714.1:p.His377Gln, NP_001340709.1:p.His517Gln, NP_001129070.1:p.His461Gln

                                  17.

                                  rs1463315399 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    2:55180592 (GRCh38)
                                    2:55407728 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:55180591:C:A
                                    Gene:
                                    CLHC1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.55180592C>A, NC_000002.11:g.55407728C>A, NG_033063.1:g.56972G>T, NM_152385.4:c.1302G>T, NM_152385.3:c.1302G>T, NM_152385.2:c.1302G>T, NM_001353781.2:c.936G>T, NM_001353781.1:c.936G>T, NM_001353783.2:c.882G>T, NM_001353783.1:c.882G>T, NM_001353787.2:c.738G>T, NM_001353787.1:c.738G>T, NM_001353784.2:c.936G>T, NM_001353784.1:c.936G>T, NM_001353786.2:c.738G>T, NM_001353786.1:c.738G>T, NR_148540.2:n.1695G>T, NR_148540.1:n.1769G>T, NM_001353782.2:c.882G>T, NM_001353782.1:c.882G>T, NM_001353779.2:c.738G>T, NM_001353779.1:c.738G>T, NM_001353785.2:c.684G>T, NM_001353785.1:c.684G>T, NM_001353780.2:c.1104G>T, NM_001353780.1:c.1104G>T, NR_148541.2:n.1398G>T, NR_148541.1:n.1472G>T, NM_001135598.2:c.936G>T, NM_001135598.1:c.936G>T, NR_148543.2:n.613G>T, NR_148543.1:n.687G>T, NP_689598.2:p.Lys434Asn, NP_001340710.1:p.Lys312Asn, NP_001340712.1:p.Lys294Asn, NP_001340716.1:p.Lys246Asn, NP_001340713.1:p.Lys312Asn, NP_001340715.1:p.Lys246Asn, NP_001340711.1:p.Lys294Asn, NP_001340708.1:p.Lys246Asn, NP_001340714.1:p.Lys228Asn, NP_001340709.1:p.Lys368Asn, NP_001129070.1:p.Lys312Asn

                                    18.

                                    rs1461594525 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      2:55212752 (GRCh38)
                                      2:55439888 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:55212751:G:A
                                      Gene:
                                      CLHC1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1456239039 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G [Show Flanks]
                                        Chromosome:
                                        2:55175790 (GRCh38)
                                        2:55402926 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:55175789:C:A,NC_000002.12:55175789:C:G
                                        Gene:
                                        CLHC1 (Varview)
                                        Functional Consequence:
                                        terminator_codon_variant,stop_lost,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000002.12:g.55175790C>A, NC_000002.12:g.55175790C>G, NC_000002.11:g.55402926C>A, NC_000002.11:g.55402926C>G, NG_033063.1:g.61774G>T, NG_033063.1:g.61774G>C, NM_152385.4:c.1761G>T, NM_152385.4:c.1761G>C, NM_152385.3:c.1761G>T, NM_152385.3:c.1761G>C, NM_152385.2:c.1761G>T, NM_152385.2:c.1761G>C, NM_001353781.2:c.1395G>T, NM_001353781.2:c.1395G>C, NM_001353781.1:c.1395G>T, NM_001353781.1:c.1395G>C, NM_001353783.2:c.1341G>T, NM_001353783.2:c.1341G>C, NM_001353783.1:c.1341G>T, NM_001353783.1:c.1341G>C, NM_001353787.2:c.1197G>T, NM_001353787.2:c.1197G>C, NM_001353787.1:c.1197G>T, NM_001353787.1:c.1197G>C, NM_001353784.2:c.1395G>T, NM_001353784.2:c.1395G>C, NM_001353784.1:c.1395G>T, NM_001353784.1:c.1395G>C, NM_001353786.2:c.1197G>T, NM_001353786.2:c.1197G>C, NM_001353786.1:c.1197G>T, NM_001353786.1:c.1197G>C, NR_148540.2:n.2154G>T, NR_148540.2:n.2154G>C, NR_148540.1:n.2228G>T, NR_148540.1:n.2228G>C, NM_001353782.2:c.1341G>T, NM_001353782.2:c.1341G>C, NM_001353782.1:c.1341G>T, NM_001353782.1:c.1341G>C, NM_001353779.2:c.1197G>T, NM_001353779.2:c.1197G>C, NM_001353779.1:c.1197G>T, NM_001353779.1:c.1197G>C, NM_001353785.2:c.1143G>T, NM_001353785.2:c.1143G>C, NM_001353785.1:c.1143G>T, NM_001353785.1:c.1143G>C, NM_001353780.2:c.1563G>T, NM_001353780.2:c.1563G>C, NM_001353780.1:c.1563G>T, NM_001353780.1:c.1563G>C, NR_148541.2:n.1857G>T, NR_148541.2:n.1857G>C, NR_148541.1:n.1931G>T, NR_148541.1:n.1931G>C, NM_001135598.2:c.1395G>T, NM_001135598.2:c.1395G>C, NM_001135598.1:c.1395G>T, NM_001135598.1:c.1395G>C, NR_148543.2:n.1072G>T, NR_148543.2:n.1072G>C, NR_148543.1:n.1146G>T, NR_148543.1:n.1146G>C, NR_148538.2:n.878G>T, NR_148538.2:n.878G>C, NR_148538.1:n.952G>T, NR_148538.1:n.952G>C, NR_148539.2:n.610G>T, NR_148539.2:n.610G>C, NR_148539.1:n.684G>T, NR_148539.1:n.684G>C, NR_148542.2:n.435G>T, NR_148542.2:n.435G>C, NR_148542.1:n.509G>T, NR_148542.1:n.509G>C, NP_689598.2:p.Ter587Tyr, NP_689598.2:p.Ter587Tyr, NP_001340710.1:p.Ter465Tyr, NP_001340710.1:p.Ter465Tyr, NP_001340712.1:p.Ter447Tyr, NP_001340712.1:p.Ter447Tyr, NP_001340716.1:p.Ter399Tyr, NP_001340716.1:p.Ter399Tyr, NP_001340713.1:p.Ter465Tyr, NP_001340713.1:p.Ter465Tyr, NP_001340715.1:p.Ter399Tyr, NP_001340715.1:p.Ter399Tyr, NP_001340711.1:p.Ter447Tyr, NP_001340711.1:p.Ter447Tyr, NP_001340708.1:p.Ter399Tyr, NP_001340708.1:p.Ter399Tyr, NP_001340714.1:p.Ter381Tyr, NP_001340714.1:p.Ter381Tyr, NP_001340709.1:p.Ter521Tyr, NP_001340709.1:p.Ter521Tyr, NP_001129070.1:p.Ter465Tyr, NP_001129070.1:p.Ter465Tyr

                                        20.

                                        rs1455915608 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          2:55175970 (GRCh38)
                                          2:55403106 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:55175969:A:G
                                          Gene:
                                          CLHC1 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.55175970A>G, NC_000002.11:g.55403106A>G, NG_033063.1:g.61594T>C, NM_152385.4:c.1581T>C, NM_152385.3:c.1581T>C, NM_152385.2:c.1581T>C, NM_001353781.2:c.1215T>C, NM_001353781.1:c.1215T>C, NM_001353783.2:c.1161T>C, NM_001353783.1:c.1161T>C, NM_001353787.2:c.1017T>C, NM_001353787.1:c.1017T>C, NM_001353784.2:c.1215T>C, NM_001353784.1:c.1215T>C, NM_001353786.2:c.1017T>C, NM_001353786.1:c.1017T>C, NR_148540.2:n.1974T>C, NR_148540.1:n.2048T>C, NM_001353782.2:c.1161T>C, NM_001353782.1:c.1161T>C, NM_001353779.2:c.1017T>C, NM_001353779.1:c.1017T>C, NM_001353785.2:c.963T>C, NM_001353785.1:c.963T>C, NM_001353780.2:c.1383T>C, NM_001353780.1:c.1383T>C, NR_148541.2:n.1677T>C, NR_148541.1:n.1751T>C, NM_001135598.2:c.1215T>C, NM_001135598.1:c.1215T>C, NR_148543.2:n.892T>C, NR_148543.1:n.966T>C, NR_148538.2:n.698T>C, NR_148538.1:n.772T>C, NR_148539.2:n.430T>C, NR_148539.1:n.504T>C, NR_148542.2:n.255T>C, NR_148542.1:n.329T>C

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