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Items: 1 to 20 of 435

1.

rs1490554080 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    19:56423543 (GRCh38)
    19:56934912 (GRCh37)
    Canonical SPDI:
    NC_000019.10:56423542:T:A
    Gene:
    ZNF583 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000012/3 (GnomAD_exomes)
    HGVS:

    2.

    rs1489318111 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      19:56424237 (GRCh38)
      19:56935606 (GRCh37)
      Canonical SPDI:
      NC_000019.10:56424236:A:G
      Gene:
      ZNF583 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      G=0.000014/2 (GnomAD)
      HGVS:
      NC_000019.10:g.56424237A>G, NC_000019.9:g.56935606A>G, XM_011526517.3:c.1579A>G, XM_011526517.2:c.1579A>G, XM_011526517.1:c.1579A>G, XM_017026346.3:c.1582A>G, XM_017026346.2:c.1582A>G, XM_017026346.1:c.1582A>G, NM_152478.3:c.1579A>G, NM_152478.2:c.1579A>G, XM_017026347.3:c.1582A>G, XM_017026347.2:c.1582A>G, XM_017026347.1:c.1582A>G, XM_017026348.2:c.1582A>G, XM_017026348.1:c.1582A>G, XM_024451383.2:c.1579A>G, XM_024451383.1:c.1579A>G, XM_017026350.2:c.1579A>G, XM_017026350.1:c.1579A>G, NM_001159861.2:c.1579A>G, NM_001159861.1:c.1579A>G, NM_001159860.2:c.1579A>G, NM_001159860.1:c.1579A>G, XM_017026349.2:c.1582A>G, XM_017026349.1:c.1582A>G, XM_005258558.2:c.1582A>G, XM_005258558.1:c.1582A>G, XM_047438235.1:c.1582A>G, XM_047438234.1:c.1582A>G, XM_047438236.1:c.1450A>G, XP_011524819.1:p.Lys527Glu, XP_016881835.1:p.Lys528Glu, NP_689691.2:p.Lys527Glu, XP_016881836.1:p.Lys528Glu, XP_016881837.1:p.Lys528Glu, XP_024307151.1:p.Lys527Glu, XP_016881839.1:p.Lys527Glu, NP_001153333.1:p.Lys527Glu, NP_001153332.1:p.Lys527Glu, XP_016881838.1:p.Lys528Glu, XP_005258615.1:p.Lys528Glu, XP_047294191.1:p.Lys528Glu, XP_047294190.1:p.Lys528Glu, XP_047294192.1:p.Lys484Glu

      3.

      rs1488251020 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        19:56423717 (GRCh38)
        19:56935086 (GRCh37)
        Canonical SPDI:
        NC_000019.10:56423716:G:C
        Gene:
        ZNF583 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:

        4.

        rs1482942986 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          19:56424016 (GRCh38)
          19:56935385 (GRCh37)
          Canonical SPDI:
          NC_000019.10:56424015:A:G
          Gene:
          ZNF583 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000019.10:g.56424016A>G, NC_000019.9:g.56935385A>G, XM_011526517.3:c.1358A>G, XM_011526517.2:c.1358A>G, XM_011526517.1:c.1358A>G, XM_017026346.3:c.1361A>G, XM_017026346.2:c.1361A>G, XM_017026346.1:c.1361A>G, NM_152478.3:c.1358A>G, NM_152478.2:c.1358A>G, XM_017026347.3:c.1361A>G, XM_017026347.2:c.1361A>G, XM_017026347.1:c.1361A>G, XM_017026348.2:c.1361A>G, XM_017026348.1:c.1361A>G, XM_024451383.2:c.1358A>G, XM_024451383.1:c.1358A>G, XM_017026350.2:c.1358A>G, XM_017026350.1:c.1358A>G, NM_001159861.2:c.1358A>G, NM_001159861.1:c.1358A>G, NM_001159860.2:c.1358A>G, NM_001159860.1:c.1358A>G, XM_017026349.2:c.1361A>G, XM_017026349.1:c.1361A>G, XM_005258558.2:c.1361A>G, XM_005258558.1:c.1361A>G, XM_047438235.1:c.1361A>G, XM_047438234.1:c.1361A>G, XM_047438236.1:c.1229A>G, XP_011524819.1:p.Gln453Arg, XP_016881835.1:p.Gln454Arg, NP_689691.2:p.Gln453Arg, XP_016881836.1:p.Gln454Arg, XP_016881837.1:p.Gln454Arg, XP_024307151.1:p.Gln453Arg, XP_016881839.1:p.Gln453Arg, NP_001153333.1:p.Gln453Arg, NP_001153332.1:p.Gln453Arg, XP_016881838.1:p.Gln454Arg, XP_005258615.1:p.Gln454Arg, XP_047294191.1:p.Gln454Arg, XP_047294190.1:p.Gln454Arg, XP_047294192.1:p.Gln410Arg

          5.

          rs1480856352 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            19:56423457 (GRCh38)
            19:56934826 (GRCh37)
            Canonical SPDI:
            NC_000019.10:56423456:C:A
            Gene:
            ZNF583 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000019.10:g.56423457C>A, NC_000019.9:g.56934826C>A, XM_011526517.3:c.799C>A, XM_011526517.2:c.799C>A, XM_011526517.1:c.799C>A, XM_017026346.3:c.802C>A, XM_017026346.2:c.802C>A, XM_017026346.1:c.802C>A, NM_152478.3:c.799C>A, NM_152478.2:c.799C>A, XM_017026347.3:c.802C>A, XM_017026347.2:c.802C>A, XM_017026347.1:c.802C>A, XM_017026348.2:c.802C>A, XM_017026348.1:c.802C>A, XM_024451383.2:c.799C>A, XM_024451383.1:c.799C>A, XM_017026350.2:c.799C>A, XM_017026350.1:c.799C>A, NM_001159861.2:c.799C>A, NM_001159861.1:c.799C>A, NM_001159860.2:c.799C>A, NM_001159860.1:c.799C>A, XM_017026349.2:c.802C>A, XM_017026349.1:c.802C>A, XM_005258558.2:c.802C>A, XM_005258558.1:c.802C>A, XM_047438235.1:c.802C>A, XM_047438234.1:c.802C>A, XM_047438236.1:c.670C>A, XP_011524819.1:p.Pro267Thr, XP_016881835.1:p.Pro268Thr, NP_689691.2:p.Pro267Thr, XP_016881836.1:p.Pro268Thr, XP_016881837.1:p.Pro268Thr, XP_024307151.1:p.Pro267Thr, XP_016881839.1:p.Pro267Thr, NP_001153333.1:p.Pro267Thr, NP_001153332.1:p.Pro267Thr, XP_016881838.1:p.Pro268Thr, XP_005258615.1:p.Pro268Thr, XP_047294191.1:p.Pro268Thr, XP_047294190.1:p.Pro268Thr, XP_047294192.1:p.Pro224Thr

            6.

            rs1480205900 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              19:56414026 (GRCh38)
              19:56925395 (GRCh37)
              Canonical SPDI:
              NC_000019.10:56414025:C:T
              Gene:
              ZNF583 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000019.10:g.56414026C>T, NC_000019.9:g.56925395C>T, XM_011526517.3:c.77C>T, XM_011526517.2:c.77C>T, XM_011526517.1:c.77C>T, XM_017026346.3:c.77C>T, XM_017026346.2:c.77C>T, XM_017026346.1:c.77C>T, NM_152478.3:c.77C>T, NM_152478.2:c.77C>T, XM_017026347.3:c.77C>T, XM_017026347.2:c.77C>T, XM_017026347.1:c.77C>T, XM_017026348.2:c.77C>T, XM_017026348.1:c.77C>T, XM_024451383.2:c.77C>T, XM_024451383.1:c.77C>T, XM_017026350.2:c.77C>T, XM_017026350.1:c.77C>T, NM_001159861.2:c.77C>T, NM_001159861.1:c.77C>T, NM_001159860.2:c.77C>T, NM_001159860.1:c.77C>T, XM_017026349.2:c.77C>T, XM_017026349.1:c.77C>T, XM_005258558.2:c.80C>T, XM_005258558.1:c.80C>T, XM_047438235.1:c.77C>T, XM_047438234.1:c.77C>T, XP_011524819.1:p.Ala26Val, XP_016881835.1:p.Ala26Val, NP_689691.2:p.Ala26Val, XP_016881836.1:p.Ala26Val, XP_016881837.1:p.Ala26Val, XP_024307151.1:p.Ala26Val, XP_016881839.1:p.Ala26Val, NP_001153333.1:p.Ala26Val, NP_001153332.1:p.Ala26Val, XP_016881838.1:p.Ala26Val, XP_005258615.1:p.Ala27Val, XP_047294191.1:p.Ala26Val, XP_047294190.1:p.Ala26Val

              7.

              rs1476603526 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:56424013 (GRCh38)
                19:56935382 (GRCh37)
                Canonical SPDI:
                NC_000019.10:56424012:C:T
                Gene:
                ZNF583 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                T=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000019.10:g.56424013C>T, NC_000019.9:g.56935382C>T, XM_011526517.3:c.1355C>T, XM_011526517.2:c.1355C>T, XM_011526517.1:c.1355C>T, XM_017026346.3:c.1358C>T, XM_017026346.2:c.1358C>T, XM_017026346.1:c.1358C>T, NM_152478.3:c.1355C>T, NM_152478.2:c.1355C>T, XM_017026347.3:c.1358C>T, XM_017026347.2:c.1358C>T, XM_017026347.1:c.1358C>T, XM_017026348.2:c.1358C>T, XM_017026348.1:c.1358C>T, XM_024451383.2:c.1355C>T, XM_024451383.1:c.1355C>T, XM_017026350.2:c.1355C>T, XM_017026350.1:c.1355C>T, NM_001159861.2:c.1355C>T, NM_001159861.1:c.1355C>T, NM_001159860.2:c.1355C>T, NM_001159860.1:c.1355C>T, XM_017026349.2:c.1358C>T, XM_017026349.1:c.1358C>T, XM_005258558.2:c.1358C>T, XM_005258558.1:c.1358C>T, XM_047438235.1:c.1358C>T, XM_047438234.1:c.1358C>T, XM_047438236.1:c.1226C>T, XP_011524819.1:p.Ala452Val, XP_016881835.1:p.Ala453Val, NP_689691.2:p.Ala452Val, XP_016881836.1:p.Ala453Val, XP_016881837.1:p.Ala453Val, XP_024307151.1:p.Ala452Val, XP_016881839.1:p.Ala452Val, NP_001153333.1:p.Ala452Val, NP_001153332.1:p.Ala452Val, XP_016881838.1:p.Ala453Val, XP_005258615.1:p.Ala453Val, XP_047294191.1:p.Ala453Val, XP_047294190.1:p.Ala453Val, XP_047294192.1:p.Ala409Val

                8.

                rs1474933662 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  19:56424053 (GRCh38)
                  19:56935422 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:56424052:G:A
                  Gene:
                  ZNF583 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000054/1 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000019.10:g.56424053G>A, NC_000019.9:g.56935422G>A, XM_011526517.3:c.1395G>A, XM_011526517.2:c.1395G>A, XM_011526517.1:c.1395G>A, XM_017026346.3:c.1398G>A, XM_017026346.2:c.1398G>A, XM_017026346.1:c.1398G>A, NM_152478.3:c.1395G>A, NM_152478.2:c.1395G>A, XM_017026347.3:c.1398G>A, XM_017026347.2:c.1398G>A, XM_017026347.1:c.1398G>A, XM_017026348.2:c.1398G>A, XM_017026348.1:c.1398G>A, XM_024451383.2:c.1395G>A, XM_024451383.1:c.1395G>A, XM_017026350.2:c.1395G>A, XM_017026350.1:c.1395G>A, NM_001159861.2:c.1395G>A, NM_001159861.1:c.1395G>A, NM_001159860.2:c.1395G>A, NM_001159860.1:c.1395G>A, XM_017026349.2:c.1398G>A, XM_017026349.1:c.1398G>A, XM_005258558.2:c.1398G>A, XM_005258558.1:c.1398G>A, XM_047438235.1:c.1398G>A, XM_047438234.1:c.1398G>A, XM_047438236.1:c.1266G>A, XP_011524819.1:p.Met465Ile, XP_016881835.1:p.Met466Ile, NP_689691.2:p.Met465Ile, XP_016881836.1:p.Met466Ile, XP_016881837.1:p.Met466Ile, XP_024307151.1:p.Met465Ile, XP_016881839.1:p.Met465Ile, NP_001153333.1:p.Met465Ile, NP_001153332.1:p.Met465Ile, XP_016881838.1:p.Met466Ile, XP_005258615.1:p.Met466Ile, XP_047294191.1:p.Met466Ile, XP_047294190.1:p.Met466Ile, XP_047294192.1:p.Met422Ile

                  9.

                  rs1471884934 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    19:56424352 (GRCh38)
                    19:56935721 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:56424351:T:G
                    Gene:
                    ZNF583 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000019.10:g.56424352T>G, NC_000019.9:g.56935721T>G, XM_011526517.3:c.1694T>G, XM_011526517.2:c.1694T>G, XM_011526517.1:c.1694T>G, XM_017026346.3:c.1697T>G, XM_017026346.2:c.1697T>G, XM_017026346.1:c.1697T>G, NM_152478.3:c.1694T>G, NM_152478.2:c.1694T>G, XM_017026347.3:c.1697T>G, XM_017026347.2:c.1697T>G, XM_017026347.1:c.1697T>G, XM_017026348.2:c.1697T>G, XM_017026348.1:c.1697T>G, XM_024451383.2:c.1694T>G, XM_024451383.1:c.1694T>G, XM_017026350.2:c.1694T>G, XM_017026350.1:c.1694T>G, NM_001159861.2:c.1694T>G, NM_001159861.1:c.1694T>G, NM_001159860.2:c.1694T>G, NM_001159860.1:c.1694T>G, XM_017026349.2:c.1697T>G, XM_017026349.1:c.1697T>G, XM_005258558.2:c.1697T>G, XM_005258558.1:c.1697T>G, XM_047438235.1:c.1697T>G, XM_047438234.1:c.1697T>G, XM_047438236.1:c.1565T>G, XP_011524819.1:p.Val565Gly, XP_016881835.1:p.Val566Gly, NP_689691.2:p.Val565Gly, XP_016881836.1:p.Val566Gly, XP_016881837.1:p.Val566Gly, XP_024307151.1:p.Val565Gly, XP_016881839.1:p.Val565Gly, NP_001153333.1:p.Val565Gly, NP_001153332.1:p.Val565Gly, XP_016881838.1:p.Val566Gly, XP_005258615.1:p.Val566Gly, XP_047294191.1:p.Val566Gly, XP_047294190.1:p.Val566Gly, XP_047294192.1:p.Val522Gly

                    10.

                    rs1471018705 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:56422939 (GRCh38)
                      19:56934308 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:56422938:C:T
                      Gene:
                      ZNF583 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000014/2 (GnomAD)
                      T=0.000015/4 (TOPMED)
                      HGVS:
                      NC_000019.10:g.56422939C>T, NC_000019.9:g.56934308C>T, XM_011526517.3:c.281C>T, XM_011526517.2:c.281C>T, XM_011526517.1:c.281C>T, XM_017026346.3:c.284C>T, XM_017026346.2:c.284C>T, XM_017026346.1:c.284C>T, NM_152478.3:c.281C>T, NM_152478.2:c.281C>T, XM_017026347.3:c.284C>T, XM_017026347.2:c.284C>T, XM_017026347.1:c.284C>T, XM_017026348.2:c.284C>T, XM_017026348.1:c.284C>T, XM_024451383.2:c.281C>T, XM_024451383.1:c.281C>T, XM_017026350.2:c.281C>T, XM_017026350.1:c.281C>T, NM_001159861.2:c.281C>T, NM_001159861.1:c.281C>T, NM_001159860.2:c.281C>T, NM_001159860.1:c.281C>T, XM_017026349.2:c.284C>T, XM_017026349.1:c.284C>T, XM_005258558.2:c.284C>T, XM_005258558.1:c.284C>T, XM_047438235.1:c.284C>T, XM_047438234.1:c.284C>T, XM_047438236.1:c.152C>T, XP_011524819.1:p.Thr94Ile, XP_016881835.1:p.Thr95Ile, NP_689691.2:p.Thr94Ile, XP_016881836.1:p.Thr95Ile, XP_016881837.1:p.Thr95Ile, XP_024307151.1:p.Thr94Ile, XP_016881839.1:p.Thr94Ile, NP_001153333.1:p.Thr94Ile, NP_001153332.1:p.Thr94Ile, XP_016881838.1:p.Thr95Ile, XP_005258615.1:p.Thr95Ile, XP_047294191.1:p.Thr95Ile, XP_047294190.1:p.Thr95Ile, XP_047294192.1:p.Thr51Ile

                      11.

                      rs1470753217 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:56424255 (GRCh38)
                        19:56935624 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:56424254:G:A
                        Gene:
                        ZNF583 (Varview)
                        Functional Consequence:
                        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)
                        HGVS:
                        NC_000019.10:g.56424255G>A, NC_000019.9:g.56935624G>A, XM_011526517.3:c.1597G>A, XM_011526517.2:c.1597G>A, XM_011526517.1:c.1597G>A, XM_017026346.3:c.1600G>A, XM_017026346.2:c.1600G>A, XM_017026346.1:c.1600G>A, NM_152478.3:c.1597G>A, NM_152478.2:c.1597G>A, XM_017026347.3:c.1600G>A, XM_017026347.2:c.1600G>A, XM_017026347.1:c.1600G>A, XM_017026348.2:c.1600G>A, XM_017026348.1:c.1600G>A, XM_024451383.2:c.1597G>A, XM_024451383.1:c.1597G>A, XM_017026350.2:c.1597G>A, XM_017026350.1:c.1597G>A, NM_001159861.2:c.1597G>A, NM_001159861.1:c.1597G>A, NM_001159860.2:c.1597G>A, NM_001159860.1:c.1597G>A, XM_017026349.2:c.1600G>A, XM_017026349.1:c.1600G>A, XM_005258558.2:c.1600G>A, XM_005258558.1:c.1600G>A, XM_047438235.1:c.1600G>A, XM_047438234.1:c.1600G>A, XM_047438236.1:c.1468G>A, XP_011524819.1:p.Ala533Thr, XP_016881835.1:p.Ala534Thr, NP_689691.2:p.Ala533Thr, XP_016881836.1:p.Ala534Thr, XP_016881837.1:p.Ala534Thr, XP_024307151.1:p.Ala533Thr, XP_016881839.1:p.Ala533Thr, NP_001153333.1:p.Ala533Thr, NP_001153332.1:p.Ala533Thr, XP_016881838.1:p.Ala534Thr, XP_005258615.1:p.Ala534Thr, XP_047294191.1:p.Ala534Thr, XP_047294190.1:p.Ala534Thr, XP_047294192.1:p.Ala490Thr

                        12.

                        rs1467407922 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          19:56424364 (GRCh38)
                          19:56935733 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:56424363:C:T
                          Gene:
                          ZNF583 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000009/2 (GnomAD_exomes)
                          HGVS:
                          NC_000019.10:g.56424364C>T, NC_000019.9:g.56935733C>T, XM_011526517.3:c.1706C>T, XM_011526517.2:c.1706C>T, XM_011526517.1:c.1706C>T, XM_017026346.3:c.1709C>T, XM_017026346.2:c.1709C>T, XM_017026346.1:c.1709C>T, NM_152478.3:c.1706C>T, NM_152478.2:c.1706C>T, XM_017026347.3:c.1709C>T, XM_017026347.2:c.1709C>T, XM_017026347.1:c.1709C>T, XM_017026348.2:c.1709C>T, XM_017026348.1:c.1709C>T, XM_024451383.2:c.1706C>T, XM_024451383.1:c.1706C>T, XM_017026350.2:c.1706C>T, XM_017026350.1:c.1706C>T, NM_001159861.2:c.1706C>T, NM_001159861.1:c.1706C>T, NM_001159860.2:c.1706C>T, NM_001159860.1:c.1706C>T, XM_017026349.2:c.1709C>T, XM_017026349.1:c.1709C>T, XM_005258558.2:c.1709C>T, XM_005258558.1:c.1709C>T, XM_047438235.1:c.1709C>T, XM_047438234.1:c.1709C>T, XM_047438236.1:c.1577C>T, XP_011524819.1:p.Ser569Phe, XP_016881835.1:p.Ser570Phe, NP_689691.2:p.Ser569Phe, XP_016881836.1:p.Ser570Phe, XP_016881837.1:p.Ser570Phe, XP_024307151.1:p.Ser569Phe, XP_016881839.1:p.Ser569Phe, NP_001153333.1:p.Ser569Phe, NP_001153332.1:p.Ser569Phe, XP_016881838.1:p.Ser570Phe, XP_005258615.1:p.Ser570Phe, XP_047294191.1:p.Ser570Phe, XP_047294190.1:p.Ser570Phe, XP_047294192.1:p.Ser526Phe

                          13.

                          rs1464877069 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            19:56423344 (GRCh38)
                            19:56934713 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:56423343:T:A
                            Gene:
                            ZNF583 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000019.10:g.56423344T>A, NC_000019.9:g.56934713T>A, XM_011526517.3:c.686T>A, XM_011526517.2:c.686T>A, XM_011526517.1:c.686T>A, XM_017026346.3:c.689T>A, XM_017026346.2:c.689T>A, XM_017026346.1:c.689T>A, NM_152478.3:c.686T>A, NM_152478.2:c.686T>A, XM_017026347.3:c.689T>A, XM_017026347.2:c.689T>A, XM_017026347.1:c.689T>A, XM_017026348.2:c.689T>A, XM_017026348.1:c.689T>A, XM_024451383.2:c.686T>A, XM_024451383.1:c.686T>A, XM_017026350.2:c.686T>A, XM_017026350.1:c.686T>A, NM_001159861.2:c.686T>A, NM_001159861.1:c.686T>A, NM_001159860.2:c.686T>A, NM_001159860.1:c.686T>A, XM_017026349.2:c.689T>A, XM_017026349.1:c.689T>A, XM_005258558.2:c.689T>A, XM_005258558.1:c.689T>A, XM_047438235.1:c.689T>A, XM_047438234.1:c.689T>A, XM_047438236.1:c.557T>A, XP_011524819.1:p.Leu229His, XP_016881835.1:p.Leu230His, NP_689691.2:p.Leu229His, XP_016881836.1:p.Leu230His, XP_016881837.1:p.Leu230His, XP_024307151.1:p.Leu229His, XP_016881839.1:p.Leu229His, NP_001153333.1:p.Leu229His, NP_001153332.1:p.Leu229His, XP_016881838.1:p.Leu230His, XP_005258615.1:p.Leu230His, XP_047294191.1:p.Leu230His, XP_047294190.1:p.Leu230His, XP_047294192.1:p.Leu186His

                            14.

                            rs1464411204 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              19:56423472 (GRCh38)
                              19:56934841 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:56423471:G:A,NC_000019.10:56423471:G:C
                              Gene:
                              ZNF583 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000019.10:g.56423472G>A, NC_000019.10:g.56423472G>C, NC_000019.9:g.56934841G>A, NC_000019.9:g.56934841G>C, XM_011526517.3:c.814G>A, XM_011526517.3:c.814G>C, XM_011526517.2:c.814G>A, XM_011526517.2:c.814G>C, XM_011526517.1:c.814G>A, XM_011526517.1:c.814G>C, XM_017026346.3:c.817G>A, XM_017026346.3:c.817G>C, XM_017026346.2:c.817G>A, XM_017026346.2:c.817G>C, XM_017026346.1:c.817G>A, XM_017026346.1:c.817G>C, NM_152478.3:c.814G>A, NM_152478.3:c.814G>C, NM_152478.2:c.814G>A, NM_152478.2:c.814G>C, XM_017026347.3:c.817G>A, XM_017026347.3:c.817G>C, XM_017026347.2:c.817G>A, XM_017026347.2:c.817G>C, XM_017026347.1:c.817G>A, XM_017026347.1:c.817G>C, XM_017026348.2:c.817G>A, XM_017026348.2:c.817G>C, XM_017026348.1:c.817G>A, XM_017026348.1:c.817G>C, XM_024451383.2:c.814G>A, XM_024451383.2:c.814G>C, XM_024451383.1:c.814G>A, XM_024451383.1:c.814G>C, XM_017026350.2:c.814G>A, XM_017026350.2:c.814G>C, XM_017026350.1:c.814G>A, XM_017026350.1:c.814G>C, NM_001159861.2:c.814G>A, NM_001159861.2:c.814G>C, NM_001159861.1:c.814G>A, NM_001159861.1:c.814G>C, NM_001159860.2:c.814G>A, NM_001159860.2:c.814G>C, NM_001159860.1:c.814G>A, NM_001159860.1:c.814G>C, XM_017026349.2:c.817G>A, XM_017026349.2:c.817G>C, XM_017026349.1:c.817G>A, XM_017026349.1:c.817G>C, XM_005258558.2:c.817G>A, XM_005258558.2:c.817G>C, XM_005258558.1:c.817G>A, XM_005258558.1:c.817G>C, XM_047438235.1:c.817G>A, XM_047438235.1:c.817G>C, XM_047438234.1:c.817G>A, XM_047438234.1:c.817G>C, XM_047438236.1:c.685G>A, XM_047438236.1:c.685G>C, XP_011524819.1:p.Glu272Lys, XP_011524819.1:p.Glu272Gln, XP_016881835.1:p.Glu273Lys, XP_016881835.1:p.Glu273Gln, NP_689691.2:p.Glu272Lys, NP_689691.2:p.Glu272Gln, XP_016881836.1:p.Glu273Lys, XP_016881836.1:p.Glu273Gln, XP_016881837.1:p.Glu273Lys, XP_016881837.1:p.Glu273Gln, XP_024307151.1:p.Glu272Lys, XP_024307151.1:p.Glu272Gln, XP_016881839.1:p.Glu272Lys, XP_016881839.1:p.Glu272Gln, NP_001153333.1:p.Glu272Lys, NP_001153333.1:p.Glu272Gln, NP_001153332.1:p.Glu272Lys, NP_001153332.1:p.Glu272Gln, XP_016881838.1:p.Glu273Lys, XP_016881838.1:p.Glu273Gln, XP_005258615.1:p.Glu273Lys, XP_005258615.1:p.Glu273Gln, XP_047294191.1:p.Glu273Lys, XP_047294191.1:p.Glu273Gln, XP_047294190.1:p.Glu273Lys, XP_047294190.1:p.Glu273Gln, XP_047294192.1:p.Glu229Lys, XP_047294192.1:p.Glu229Gln

                              15.

                              rs1463766838 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                19:56423868 (GRCh38)
                                19:56935237 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:56423867:G:A
                                Gene:
                                ZNF583 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000019.10:g.56423868G>A, NC_000019.9:g.56935237G>A, XM_011526517.3:c.1210G>A, XM_011526517.2:c.1210G>A, XM_011526517.1:c.1210G>A, XM_017026346.3:c.1213G>A, XM_017026346.2:c.1213G>A, XM_017026346.1:c.1213G>A, NM_152478.3:c.1210G>A, NM_152478.2:c.1210G>A, XM_017026347.3:c.1213G>A, XM_017026347.2:c.1213G>A, XM_017026347.1:c.1213G>A, XM_017026348.2:c.1213G>A, XM_017026348.1:c.1213G>A, XM_024451383.2:c.1210G>A, XM_024451383.1:c.1210G>A, XM_017026350.2:c.1210G>A, XM_017026350.1:c.1210G>A, NM_001159861.2:c.1210G>A, NM_001159861.1:c.1210G>A, NM_001159860.2:c.1210G>A, NM_001159860.1:c.1210G>A, XM_017026349.2:c.1213G>A, XM_017026349.1:c.1213G>A, XM_005258558.2:c.1213G>A, XM_005258558.1:c.1213G>A, XM_047438235.1:c.1213G>A, XM_047438234.1:c.1213G>A, XM_047438236.1:c.1081G>A, XP_011524819.1:p.Gly404Arg, XP_016881835.1:p.Gly405Arg, NP_689691.2:p.Gly404Arg, XP_016881836.1:p.Gly405Arg, XP_016881837.1:p.Gly405Arg, XP_024307151.1:p.Gly404Arg, XP_016881839.1:p.Gly404Arg, NP_001153333.1:p.Gly404Arg, NP_001153332.1:p.Gly404Arg, XP_016881838.1:p.Gly405Arg, XP_005258615.1:p.Gly405Arg, XP_047294191.1:p.Gly405Arg, XP_047294190.1:p.Gly405Arg, XP_047294192.1:p.Gly361Arg

                                16.

                                rs1461871970 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  19:56423769 (GRCh38)
                                  19:56935138 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:56423768:C:G
                                  Gene:
                                  ZNF583 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000019.10:g.56423769C>G, NC_000019.9:g.56935138C>G, XM_011526517.3:c.1111C>G, XM_011526517.2:c.1111C>G, XM_011526517.1:c.1111C>G, XM_017026346.3:c.1114C>G, XM_017026346.2:c.1114C>G, XM_017026346.1:c.1114C>G, NM_152478.3:c.1111C>G, NM_152478.2:c.1111C>G, XM_017026347.3:c.1114C>G, XM_017026347.2:c.1114C>G, XM_017026347.1:c.1114C>G, XM_017026348.2:c.1114C>G, XM_017026348.1:c.1114C>G, XM_024451383.2:c.1111C>G, XM_024451383.1:c.1111C>G, XM_017026350.2:c.1111C>G, XM_017026350.1:c.1111C>G, NM_001159861.2:c.1111C>G, NM_001159861.1:c.1111C>G, NM_001159860.2:c.1111C>G, NM_001159860.1:c.1111C>G, XM_017026349.2:c.1114C>G, XM_017026349.1:c.1114C>G, XM_005258558.2:c.1114C>G, XM_005258558.1:c.1114C>G, XM_047438235.1:c.1114C>G, XM_047438234.1:c.1114C>G, XM_047438236.1:c.982C>G, XP_011524819.1:p.Gln371Glu, XP_016881835.1:p.Gln372Glu, NP_689691.2:p.Gln371Glu, XP_016881836.1:p.Gln372Glu, XP_016881837.1:p.Gln372Glu, XP_024307151.1:p.Gln371Glu, XP_016881839.1:p.Gln371Glu, NP_001153333.1:p.Gln371Glu, NP_001153332.1:p.Gln371Glu, XP_016881838.1:p.Gln372Glu, XP_005258615.1:p.Gln372Glu, XP_047294191.1:p.Gln372Glu, XP_047294190.1:p.Gln372Glu, XP_047294192.1:p.Gln328Glu

                                  17.

                                  rs1461604423 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    19:56423971 (GRCh38)
                                    19:56935340 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:56423970:G:A
                                    Gene:
                                    ZNF583 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000019.10:g.56423971G>A, NC_000019.9:g.56935340G>A, XM_011526517.3:c.1313G>A, XM_011526517.2:c.1313G>A, XM_011526517.1:c.1313G>A, XM_017026346.3:c.1316G>A, XM_017026346.2:c.1316G>A, XM_017026346.1:c.1316G>A, NM_152478.3:c.1313G>A, NM_152478.2:c.1313G>A, XM_017026347.3:c.1316G>A, XM_017026347.2:c.1316G>A, XM_017026347.1:c.1316G>A, XM_017026348.2:c.1316G>A, XM_017026348.1:c.1316G>A, XM_024451383.2:c.1313G>A, XM_024451383.1:c.1313G>A, XM_017026350.2:c.1313G>A, XM_017026350.1:c.1313G>A, NM_001159861.2:c.1313G>A, NM_001159861.1:c.1313G>A, NM_001159860.2:c.1313G>A, NM_001159860.1:c.1313G>A, XM_017026349.2:c.1316G>A, XM_017026349.1:c.1316G>A, XM_005258558.2:c.1316G>A, XM_005258558.1:c.1316G>A, XM_047438235.1:c.1316G>A, XM_047438234.1:c.1316G>A, XM_047438236.1:c.1184G>A, XP_011524819.1:p.Cys438Tyr, XP_016881835.1:p.Cys439Tyr, NP_689691.2:p.Cys438Tyr, XP_016881836.1:p.Cys439Tyr, XP_016881837.1:p.Cys439Tyr, XP_024307151.1:p.Cys438Tyr, XP_016881839.1:p.Cys438Tyr, NP_001153333.1:p.Cys438Tyr, NP_001153332.1:p.Cys438Tyr, XP_016881838.1:p.Cys439Tyr, XP_005258615.1:p.Cys439Tyr, XP_047294191.1:p.Cys439Tyr, XP_047294190.1:p.Cys439Tyr, XP_047294192.1:p.Cys395Tyr

                                    18.

                                    rs1458908679 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:56423844 (GRCh38)
                                      19:56935213 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:56423843:G:A
                                      Gene:
                                      ZNF583 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000019.10:g.56423844G>A, NC_000019.9:g.56935213G>A, XM_011526517.3:c.1186G>A, XM_011526517.2:c.1186G>A, XM_011526517.1:c.1186G>A, XM_017026346.3:c.1189G>A, XM_017026346.2:c.1189G>A, XM_017026346.1:c.1189G>A, NM_152478.3:c.1186G>A, NM_152478.2:c.1186G>A, XM_017026347.3:c.1189G>A, XM_017026347.2:c.1189G>A, XM_017026347.1:c.1189G>A, XM_017026348.2:c.1189G>A, XM_017026348.1:c.1189G>A, XM_024451383.2:c.1186G>A, XM_024451383.1:c.1186G>A, XM_017026350.2:c.1186G>A, XM_017026350.1:c.1186G>A, NM_001159861.2:c.1186G>A, NM_001159861.1:c.1186G>A, NM_001159860.2:c.1186G>A, NM_001159860.1:c.1186G>A, XM_017026349.2:c.1189G>A, XM_017026349.1:c.1189G>A, XM_005258558.2:c.1189G>A, XM_005258558.1:c.1189G>A, XM_047438235.1:c.1189G>A, XM_047438234.1:c.1189G>A, XM_047438236.1:c.1057G>A, XP_011524819.1:p.Ala396Thr, XP_016881835.1:p.Ala397Thr, NP_689691.2:p.Ala396Thr, XP_016881836.1:p.Ala397Thr, XP_016881837.1:p.Ala397Thr, XP_024307151.1:p.Ala396Thr, XP_016881839.1:p.Ala396Thr, NP_001153333.1:p.Ala396Thr, NP_001153332.1:p.Ala396Thr, XP_016881838.1:p.Ala397Thr, XP_005258615.1:p.Ala397Thr, XP_047294191.1:p.Ala397Thr, XP_047294190.1:p.Ala397Thr, XP_047294192.1:p.Ala353Thr

                                      19.

                                      rs1457582279 [Homo sapiens]
                                        Variant type:
                                        INS
                                        Alleles:
                                        ->TCCT [Show Flanks]
                                        Chromosome:
                                        19:56423265 (GRCh38)
                                        19:56934635 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:56423265::TCCT
                                        Gene:
                                        ZNF583 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,frameshift_variant
                                        HGVS:
                                        NC_000019.10:g.56423265_56423266insTCCT, NC_000019.9:g.56934634_56934635insTCCT, XM_011526517.3:c.607_608insTCCT, XM_011526517.2:c.607_608insTCCT, XM_011526517.1:c.607_608insTCCT, XM_017026346.3:c.610_611insTCCT, XM_017026346.2:c.610_611insTCCT, XM_017026346.1:c.610_611insTCCT, NM_152478.3:c.607_608insTCCT, NM_152478.2:c.607_608insTCCT, XM_017026347.3:c.610_611insTCCT, XM_017026347.2:c.610_611insTCCT, XM_017026347.1:c.610_611insTCCT, XM_017026348.2:c.610_611insTCCT, XM_017026348.1:c.610_611insTCCT, XM_024451383.2:c.607_608insTCCT, XM_024451383.1:c.607_608insTCCT, XM_017026350.2:c.607_608insTCCT, XM_017026350.1:c.607_608insTCCT, NM_001159861.2:c.607_608insTCCT, NM_001159861.1:c.607_608insTCCT, NM_001159860.2:c.607_608insTCCT, NM_001159860.1:c.607_608insTCCT, XM_017026349.2:c.610_611insTCCT, XM_017026349.1:c.610_611insTCCT, XM_005258558.2:c.610_611insTCCT, XM_005258558.1:c.610_611insTCCT, XM_047438235.1:c.610_611insTCCT, XM_047438234.1:c.610_611insTCCT, XM_047438236.1:c.478_479insTCCT, XP_011524819.1:p.Arg203fs, XP_016881835.1:p.Arg204fs, NP_689691.2:p.Arg203fs, XP_016881836.1:p.Arg204fs, XP_016881837.1:p.Arg204fs, XP_024307151.1:p.Arg203fs, XP_016881839.1:p.Arg203fs, NP_001153333.1:p.Arg203fs, NP_001153332.1:p.Arg203fs, XP_016881838.1:p.Arg204fs, XP_005258615.1:p.Arg204fs, XP_047294191.1:p.Arg204fs, XP_047294190.1:p.Arg204fs, XP_047294192.1:p.Arg160fs

                                        20.

                                        rs1457044226 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          19:56423787 (GRCh38)
                                          19:56935156 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:56423786:G:C
                                          Gene:
                                          ZNF583 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000019.10:g.56423787G>C, NC_000019.9:g.56935156G>C, XM_011526517.3:c.1129G>C, XM_011526517.2:c.1129G>C, XM_011526517.1:c.1129G>C, XM_017026346.3:c.1132G>C, XM_017026346.2:c.1132G>C, XM_017026346.1:c.1132G>C, NM_152478.3:c.1129G>C, NM_152478.2:c.1129G>C, XM_017026347.3:c.1132G>C, XM_017026347.2:c.1132G>C, XM_017026347.1:c.1132G>C, XM_017026348.2:c.1132G>C, XM_017026348.1:c.1132G>C, XM_024451383.2:c.1129G>C, XM_024451383.1:c.1129G>C, XM_017026350.2:c.1129G>C, XM_017026350.1:c.1129G>C, NM_001159861.2:c.1129G>C, NM_001159861.1:c.1129G>C, NM_001159860.2:c.1129G>C, NM_001159860.1:c.1129G>C, XM_017026349.2:c.1132G>C, XM_017026349.1:c.1132G>C, XM_005258558.2:c.1132G>C, XM_005258558.1:c.1132G>C, XM_047438235.1:c.1132G>C, XM_047438234.1:c.1132G>C, XM_047438236.1:c.1000G>C, XP_011524819.1:p.Glu377Gln, XP_016881835.1:p.Glu378Gln, NP_689691.2:p.Glu377Gln, XP_016881836.1:p.Glu378Gln, XP_016881837.1:p.Glu378Gln, XP_024307151.1:p.Glu377Gln, XP_016881839.1:p.Glu377Gln, NP_001153333.1:p.Glu377Gln, NP_001153332.1:p.Glu377Gln, XP_016881838.1:p.Glu378Gln, XP_005258615.1:p.Glu378Gln, XP_047294191.1:p.Glu378Gln, XP_047294190.1:p.Glu378Gln, XP_047294192.1:p.Glu334Gln

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