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Items: 1 to 20 of 365

1.

rs1490679467 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    7:100071724 (GRCh38)
    7:99669347 (GRCh37)
    Canonical SPDI:
    NC_000007.14:100071723:T:C
    Gene:
    ZNF3 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    NC_000007.14:g.100071724T>C, NC_000007.13:g.99669347T>C, NM_032924.5:c.760A>G, NM_032924.4:c.760A>G, XM_024446928.2:c.667A>G, XM_024446928.1:c.667A>G, NM_001362775.2:c.781A>G, NM_001362775.1:c.781A>G, XM_024446921.2:c.775A>G, XM_024446921.1:c.775A>G, NM_001278284.2:c.760A>G, NM_001278284.1:c.760A>G, NM_001278287.2:c.760A>G, NM_001278287.1:c.760A>G, NM_001362777.2:c.652A>G, NM_001362777.1:c.652A>G, NM_001318136.2:c.781A>G, NM_001318136.1:c.781A>G, XM_024446919.2:c.775A>G, XM_024446919.1:c.775A>G, XM_024446920.2:c.775A>G, XM_024446920.1:c.775A>G, NM_001318135.2:c.760A>G, NM_001318135.1:c.760A>G, NM_001362776.2:c.775A>G, NM_001362776.1:c.775A>G, XM_024446925.2:c.667A>G, XM_024446925.1:c.667A>G, NM_001278290.2:c.760A>G, NM_001278290.1:c.760A>G, NM_001278292.2:c.652A>G, NM_001278292.1:c.652A>G, XM_024446927.2:c.667A>G, XM_024446927.1:c.667A>G, NM_001278291.2:c.652A>G, NM_001278291.1:c.652A>G, NM_001371217.1:c.781A>G, NM_001371211.1:c.760A>G, NM_001371213.1:c.760A>G, NM_001371218.1:c.523A>G, NM_001371212.1:c.760A>G, NM_001371214.1:c.760A>G, NM_001371216.1:c.652A>G, NM_001371215.1:c.652A>G, NP_116313.3:p.Lys254Glu, XP_024302696.1:p.Lys223Glu, NP_001349704.1:p.Lys261Glu, XP_024302689.1:p.Lys259Glu, NP_001265213.1:p.Lys254Glu, NP_001265216.1:p.Lys254Glu, NP_001349706.1:p.Lys218Glu, NP_001305065.1:p.Lys261Glu, XP_024302687.1:p.Lys259Glu, XP_024302688.1:p.Lys259Glu, NP_001305064.1:p.Lys254Glu, NP_001349705.1:p.Lys259Glu, XP_024302693.1:p.Lys223Glu, NP_001265219.1:p.Lys254Glu, NP_001265221.1:p.Lys218Glu, XP_024302695.1:p.Lys223Glu, NP_001265220.1:p.Lys218Glu, NP_001358146.1:p.Lys261Glu, NP_001358140.1:p.Lys254Glu, NP_001358142.1:p.Lys254Glu, NP_001358147.1:p.Lys175Glu, NP_001358141.1:p.Lys254Glu, NP_001358143.1:p.Lys254Glu, NP_001358145.1:p.Lys218Glu, NP_001358144.1:p.Lys218Glu

    2.

    rs1486528455 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CC>- [Show Flanks]
      Chromosome:
      7:100072155 (GRCh38)
      7:99669778 (GRCh37)
      Canonical SPDI:
      NC_000007.14:100072152:CCCC:CC
      Gene:
      ZNF3 (Varview)
      Functional Consequence:
      frameshift_variant,intron_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CCCC=0./0 (ALFA)
      -=0.000007/1 (GnomAD)
      HGVS:
      NC_000007.14:g.100072155_100072156del, NC_000007.13:g.99669778_99669779del, NM_032924.5:c.330_331del, NM_032924.4:c.330_331del, XM_024446928.2:c.237_238del, XM_024446928.1:c.237_238del, NM_001362775.2:c.351_352del, NM_001362775.1:c.351_352del, XM_024446921.2:c.345_346del, XM_024446921.1:c.345_346del, NM_001278284.2:c.330_331del, NM_001278284.1:c.330_331del, NM_001278287.2:c.330_331del, NM_001278287.1:c.330_331del, NM_001362777.2:c.222_223del, NM_001362777.1:c.222_223del, NM_001318136.2:c.351_352del, NM_001318136.1:c.351_352del, XM_024446919.2:c.345_346del, XM_024446919.1:c.345_346del, XM_024446920.2:c.345_346del, XM_024446920.1:c.345_346del, NM_001318135.2:c.330_331del, NM_001318135.1:c.330_331del, NM_001362776.2:c.345_346del, NM_001362776.1:c.345_346del, XM_024446925.2:c.237_238del, XM_024446925.1:c.237_238del, NM_001278290.2:c.330_331del, NM_001278290.1:c.330_331del, NM_001278292.2:c.222_223del, NM_001278292.1:c.222_223del, XM_024446927.2:c.237_238del, XM_024446927.1:c.237_238del, NM_001278291.2:c.222_223del, NM_001278291.1:c.222_223del, NM_001371217.1:c.351_352del, NM_001371211.1:c.330_331del, NM_001371213.1:c.330_331del, NM_001371218.1:c.93_94del, NM_001371212.1:c.330_331del, NM_001371214.1:c.330_331del, NM_001371216.1:c.222_223del, NM_001371215.1:c.222_223del, NP_116313.3:p.Val111fs, XP_024302696.1:p.Val80fs, NP_001349704.1:p.Val118fs, XP_024302689.1:p.Val116fs, NP_001265213.1:p.Val111fs, NP_001265216.1:p.Val111fs, NP_001349706.1:p.Val75fs, NP_001305065.1:p.Val118fs, XP_024302687.1:p.Val116fs, XP_024302688.1:p.Val116fs, NP_001305064.1:p.Val111fs, NP_001349705.1:p.Val116fs, XP_024302693.1:p.Val80fs, NP_001265219.1:p.Val111fs, NP_001265221.1:p.Val75fs, XP_024302695.1:p.Val80fs, NP_001265220.1:p.Val75fs, NP_001358146.1:p.Val118fs, NP_001358140.1:p.Val111fs, NP_001358142.1:p.Val111fs, NP_001358147.1:p.Val32fs, NP_001358141.1:p.Val111fs, NP_001358143.1:p.Val111fs, NP_001358145.1:p.Val75fs, NP_001358144.1:p.Val75fs

      3.

      rs1485009784 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        7:100071913 (GRCh38)
        7:99669536 (GRCh37)
        Canonical SPDI:
        NC_000007.14:100071912:G:T
        Gene:
        ZNF3 (Varview)
        Functional Consequence:
        intron_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000007.14:g.100071913G>T, NC_000007.13:g.99669536G>T, NM_032924.5:c.571C>A, NM_032924.4:c.571C>A, XM_024446928.2:c.478C>A, XM_024446928.1:c.478C>A, NM_001362775.2:c.592C>A, NM_001362775.1:c.592C>A, XM_024446921.2:c.586C>A, XM_024446921.1:c.586C>A, NM_001278284.2:c.571C>A, NM_001278284.1:c.571C>A, NM_001278287.2:c.571C>A, NM_001278287.1:c.571C>A, NM_001362777.2:c.463C>A, NM_001362777.1:c.463C>A, NM_001318136.2:c.592C>A, NM_001318136.1:c.592C>A, XM_024446919.2:c.586C>A, XM_024446919.1:c.586C>A, XM_024446920.2:c.586C>A, XM_024446920.1:c.586C>A, NM_001318135.2:c.571C>A, NM_001318135.1:c.571C>A, NM_001362776.2:c.586C>A, NM_001362776.1:c.586C>A, XM_024446925.2:c.478C>A, XM_024446925.1:c.478C>A, NM_001278290.2:c.571C>A, NM_001278290.1:c.571C>A, NM_001278292.2:c.463C>A, NM_001278292.1:c.463C>A, XM_024446927.2:c.478C>A, XM_024446927.1:c.478C>A, NM_001278291.2:c.463C>A, NM_001278291.1:c.463C>A, NM_001371217.1:c.592C>A, NM_001371211.1:c.571C>A, NM_001371213.1:c.571C>A, NM_001371218.1:c.334C>A, NM_001371212.1:c.571C>A, NM_001371214.1:c.571C>A, NM_001371216.1:c.463C>A, NM_001371215.1:c.463C>A, NP_116313.3:p.Gln191Lys, XP_024302696.1:p.Gln160Lys, NP_001349704.1:p.Gln198Lys, XP_024302689.1:p.Gln196Lys, NP_001265213.1:p.Gln191Lys, NP_001265216.1:p.Gln191Lys, NP_001349706.1:p.Gln155Lys, NP_001305065.1:p.Gln198Lys, XP_024302687.1:p.Gln196Lys, XP_024302688.1:p.Gln196Lys, NP_001305064.1:p.Gln191Lys, NP_001349705.1:p.Gln196Lys, XP_024302693.1:p.Gln160Lys, NP_001265219.1:p.Gln191Lys, NP_001265221.1:p.Gln155Lys, XP_024302695.1:p.Gln160Lys, NP_001265220.1:p.Gln155Lys, NP_001358146.1:p.Gln198Lys, NP_001358140.1:p.Gln191Lys, NP_001358142.1:p.Gln191Lys, NP_001358147.1:p.Gln112Lys, NP_001358141.1:p.Gln191Lys, NP_001358143.1:p.Gln191Lys, NP_001358145.1:p.Gln155Lys, NP_001358144.1:p.Gln155Lys

        4.

        rs1477465185 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          7:100071476 (GRCh38)
          7:99669099 (GRCh37)
          Canonical SPDI:
          NC_000007.14:100071475:T:C
          Gene:
          ZNF3 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000015/2 (GnomAD)
          C=0.000212/6 (TOMMO)
          C=0.000468/3 (1000Genomes)
          C=0.008556/25 (KOREAN)
          HGVS:
          NC_000007.14:g.100071476T>C, NC_000007.13:g.99669099T>C, NM_032924.5:c.1008A>G, NM_032924.4:c.1008A>G, XM_024446928.2:c.915A>G, XM_024446928.1:c.915A>G, NM_001362775.2:c.1029A>G, NM_001362775.1:c.1029A>G, XM_024446921.2:c.1023A>G, XM_024446921.1:c.1023A>G, NM_001278284.2:c.1008A>G, NM_001278284.1:c.1008A>G, NM_001278287.2:c.1008A>G, NM_001278287.1:c.1008A>G, NM_001362777.2:c.900A>G, NM_001362777.1:c.900A>G, NM_001318136.2:c.1029A>G, NM_001318136.1:c.1029A>G, XM_024446919.2:c.1023A>G, XM_024446919.1:c.1023A>G, XM_024446920.2:c.1023A>G, XM_024446920.1:c.1023A>G, NM_001318135.2:c.1008A>G, NM_001318135.1:c.1008A>G, NM_001362776.2:c.1023A>G, NM_001362776.1:c.1023A>G, XM_024446925.2:c.915A>G, XM_024446925.1:c.915A>G, NM_001278290.2:c.1008A>G, NM_001278290.1:c.1008A>G, NM_001278292.2:c.900A>G, NM_001278292.1:c.900A>G, XM_024446927.2:c.915A>G, XM_024446927.1:c.915A>G, NM_001278291.2:c.900A>G, NM_001278291.1:c.900A>G, NM_001371217.1:c.1029A>G, NM_001371211.1:c.1008A>G, NM_001371213.1:c.1008A>G, NM_001371218.1:c.771A>G, NM_001371212.1:c.1008A>G, NM_001371214.1:c.1008A>G, NM_001371216.1:c.900A>G, NM_001371215.1:c.900A>G

          5.

          rs1475558621 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            7:100071316 (GRCh38)
            7:99668939 (GRCh37)
            Canonical SPDI:
            NC_000007.14:100071315:G:C
            Gene:
            ZNF3 (Varview)
            Functional Consequence:
            intron_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0.000047/1 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000007.14:g.100071316G>C, NC_000007.13:g.99668939G>C, NM_032924.5:c.1168C>G, NM_032924.4:c.1168C>G, XM_024446928.2:c.1075C>G, XM_024446928.1:c.1075C>G, NM_001362775.2:c.1189C>G, NM_001362775.1:c.1189C>G, XM_024446921.2:c.1183C>G, XM_024446921.1:c.1183C>G, NM_001278284.2:c.1168C>G, NM_001278284.1:c.1168C>G, NM_001278287.2:c.1168C>G, NM_001278287.1:c.1168C>G, NM_001362777.2:c.1060C>G, NM_001362777.1:c.1060C>G, NM_001318136.2:c.1189C>G, NM_001318136.1:c.1189C>G, XM_024446919.2:c.1183C>G, XM_024446919.1:c.1183C>G, XM_024446920.2:c.1183C>G, XM_024446920.1:c.1183C>G, NM_001318135.2:c.1168C>G, NM_001318135.1:c.1168C>G, NM_001362776.2:c.1183C>G, NM_001362776.1:c.1183C>G, XM_024446925.2:c.1075C>G, XM_024446925.1:c.1075C>G, NM_001278290.2:c.1168C>G, NM_001278290.1:c.1168C>G, NM_001278292.2:c.1060C>G, NM_001278292.1:c.1060C>G, XM_024446927.2:c.1075C>G, XM_024446927.1:c.1075C>G, NM_001278291.2:c.1060C>G, NM_001278291.1:c.1060C>G, NM_001371217.1:c.1189C>G, NM_001371211.1:c.1168C>G, NM_001371213.1:c.1168C>G, NM_001371218.1:c.931C>G, NM_001371212.1:c.1168C>G, NM_001371214.1:c.1168C>G, NM_001371216.1:c.1060C>G, NM_001371215.1:c.1060C>G, NP_116313.3:p.His390Asp, XP_024302696.1:p.His359Asp, NP_001349704.1:p.His397Asp, XP_024302689.1:p.His395Asp, NP_001265213.1:p.His390Asp, NP_001265216.1:p.His390Asp, NP_001349706.1:p.His354Asp, NP_001305065.1:p.His397Asp, XP_024302687.1:p.His395Asp, XP_024302688.1:p.His395Asp, NP_001305064.1:p.His390Asp, NP_001349705.1:p.His395Asp, XP_024302693.1:p.His359Asp, NP_001265219.1:p.His390Asp, NP_001265221.1:p.His354Asp, XP_024302695.1:p.His359Asp, NP_001265220.1:p.His354Asp, NP_001358146.1:p.His397Asp, NP_001358140.1:p.His390Asp, NP_001358142.1:p.His390Asp, NP_001358147.1:p.His311Asp, NP_001358141.1:p.His390Asp, NP_001358143.1:p.His390Asp, NP_001358145.1:p.His354Asp, NP_001358144.1:p.His354Asp

            6.

            rs1475521731 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              7:100071927 (GRCh38)
              7:99669550 (GRCh37)
              Canonical SPDI:
              NC_000007.14:100071926:T:C
              Gene:
              ZNF3 (Varview)
              Functional Consequence:
              intron_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000004/1 (TOPMED)
              HGVS:
              NC_000007.14:g.100071927T>C, NC_000007.13:g.99669550T>C, NM_032924.5:c.557A>G, NM_032924.4:c.557A>G, XM_024446928.2:c.464A>G, XM_024446928.1:c.464A>G, NM_001362775.2:c.578A>G, NM_001362775.1:c.578A>G, XM_024446921.2:c.572A>G, XM_024446921.1:c.572A>G, NM_001278284.2:c.557A>G, NM_001278284.1:c.557A>G, NM_001278287.2:c.557A>G, NM_001278287.1:c.557A>G, NM_001362777.2:c.449A>G, NM_001362777.1:c.449A>G, NM_001318136.2:c.578A>G, NM_001318136.1:c.578A>G, XM_024446919.2:c.572A>G, XM_024446919.1:c.572A>G, XM_024446920.2:c.572A>G, XM_024446920.1:c.572A>G, NM_001318135.2:c.557A>G, NM_001318135.1:c.557A>G, NM_001362776.2:c.572A>G, NM_001362776.1:c.572A>G, XM_024446925.2:c.464A>G, XM_024446925.1:c.464A>G, NM_001278290.2:c.557A>G, NM_001278290.1:c.557A>G, NM_001278292.2:c.449A>G, NM_001278292.1:c.449A>G, XM_024446927.2:c.464A>G, XM_024446927.1:c.464A>G, NM_001278291.2:c.449A>G, NM_001278291.1:c.449A>G, NM_001371217.1:c.578A>G, NM_001371211.1:c.557A>G, NM_001371213.1:c.557A>G, NM_001371218.1:c.320A>G, NM_001371212.1:c.557A>G, NM_001371214.1:c.557A>G, NM_001371216.1:c.449A>G, NM_001371215.1:c.449A>G, NP_116313.3:p.Asn186Ser, XP_024302696.1:p.Asn155Ser, NP_001349704.1:p.Asn193Ser, XP_024302689.1:p.Asn191Ser, NP_001265213.1:p.Asn186Ser, NP_001265216.1:p.Asn186Ser, NP_001349706.1:p.Asn150Ser, NP_001305065.1:p.Asn193Ser, XP_024302687.1:p.Asn191Ser, XP_024302688.1:p.Asn191Ser, NP_001305064.1:p.Asn186Ser, NP_001349705.1:p.Asn191Ser, XP_024302693.1:p.Asn155Ser, NP_001265219.1:p.Asn186Ser, NP_001265221.1:p.Asn150Ser, XP_024302695.1:p.Asn155Ser, NP_001265220.1:p.Asn150Ser, NP_001358146.1:p.Asn193Ser, NP_001358140.1:p.Asn186Ser, NP_001358142.1:p.Asn186Ser, NP_001358147.1:p.Asn107Ser, NP_001358141.1:p.Asn186Ser, NP_001358143.1:p.Asn186Ser, NP_001358145.1:p.Asn150Ser, NP_001358144.1:p.Asn150Ser

              7.

              rs1470828287 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                7:100075147 (GRCh38)
                7:99672770 (GRCh37)
                Canonical SPDI:
                NC_000007.14:100075146:C:T
                Gene:
                ZNF3 (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=0.000007/1 (GnomAD)
                T=0.000142/2 (TOMMO)
                HGVS:
                NC_000007.14:g.100075147C>T, NC_000007.13:g.99672770C>T, NM_032924.5:c.259G>A, NM_032924.4:c.259G>A, NM_017715.4:c.259G>A, NM_017715.3:c.259G>A, XM_024446928.2:c.166G>A, XM_024446928.1:c.166G>A, NM_001362775.2:c.280G>A, NM_001362775.1:c.280G>A, XM_024446921.2:c.274G>A, XM_024446921.1:c.274G>A, NM_001278284.2:c.259G>A, NM_001278284.1:c.259G>A, NM_001278287.2:c.259G>A, NM_001278287.1:c.259G>A, NM_001362777.2:c.151G>A, NM_001362777.1:c.151G>A, NM_001318136.2:c.280G>A, NM_001318136.1:c.280G>A, XM_024446919.2:c.274G>A, XM_024446919.1:c.274G>A, XM_024446920.2:c.274G>A, XM_024446920.1:c.274G>A, NM_001318135.2:c.259G>A, NM_001318135.1:c.259G>A, NM_001362776.2:c.274G>A, NM_001362776.1:c.274G>A, XM_024446925.2:c.166G>A, XM_024446925.1:c.166G>A, NM_001278290.2:c.259G>A, NM_001278290.1:c.259G>A, NM_001278292.2:c.151G>A, NM_001278292.1:c.151G>A, XM_024446927.2:c.166G>A, XM_024446927.1:c.166G>A, NM_001278291.2:c.151G>A, NM_001278291.1:c.151G>A, NM_001318137.2:c.151G>A, NM_001318137.1:c.151G>A, NM_001371217.1:c.280G>A, NM_001371211.1:c.259G>A, NM_001371213.1:c.259G>A, NM_001371218.1:c.22G>A, NM_001371212.1:c.259G>A, NM_001371214.1:c.259G>A, NM_001371216.1:c.151G>A, NM_001371215.1:c.151G>A, XM_047420802.1:c.259G>A, NM_001371210.1:c.259G>A, NP_116313.3:p.Val87Met, NP_060185.2:p.Val87Met, XP_024302696.1:p.Val56Met, NP_001349704.1:p.Val94Met, XP_024302689.1:p.Val92Met, NP_001265213.1:p.Val87Met, NP_001265216.1:p.Val87Met, NP_001349706.1:p.Val51Met, NP_001305065.1:p.Val94Met, XP_024302687.1:p.Val92Met, XP_024302688.1:p.Val92Met, NP_001305064.1:p.Val87Met, NP_001349705.1:p.Val92Met, XP_024302693.1:p.Val56Met, NP_001265219.1:p.Val87Met, NP_001265221.1:p.Val51Met, XP_024302695.1:p.Val56Met, NP_001265220.1:p.Val51Met, NP_001305066.1:p.Val51Met, NP_001358146.1:p.Val94Met, NP_001358140.1:p.Val87Met, NP_001358142.1:p.Val87Met, NP_001358147.1:p.Val8Met, NP_001358141.1:p.Val87Met, NP_001358143.1:p.Val87Met, NP_001358145.1:p.Val51Met, NP_001358144.1:p.Val51Met, XP_047276758.1:p.Val87Met, NP_001358139.1:p.Val87Met

                8.

                rs1470260816 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  7:100071452 (GRCh38)
                  7:99669075 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:100071451:T:C
                  Gene:
                  ZNF3 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.002013/9 (ALFA)
                  C=0.000022/3 (GnomAD)
                  C=0.000389/11 (TOMMO)
                  C=0.000468/3 (1000Genomes)
                  C=0.010609/31 (KOREAN)
                  HGVS:
                  NC_000007.14:g.100071452T>C, NC_000007.13:g.99669075T>C, NM_032924.5:c.1032A>G, NM_032924.4:c.1032A>G, XM_024446928.2:c.939A>G, XM_024446928.1:c.939A>G, NM_001362775.2:c.1053A>G, NM_001362775.1:c.1053A>G, XM_024446921.2:c.1047A>G, XM_024446921.1:c.1047A>G, NM_001278284.2:c.1032A>G, NM_001278284.1:c.1032A>G, NM_001278287.2:c.1032A>G, NM_001278287.1:c.1032A>G, NM_001362777.2:c.924A>G, NM_001362777.1:c.924A>G, NM_001318136.2:c.1053A>G, NM_001318136.1:c.1053A>G, XM_024446919.2:c.1047A>G, XM_024446919.1:c.1047A>G, XM_024446920.2:c.1047A>G, XM_024446920.1:c.1047A>G, NM_001318135.2:c.1032A>G, NM_001318135.1:c.1032A>G, NM_001362776.2:c.1047A>G, NM_001362776.1:c.1047A>G, XM_024446925.2:c.939A>G, XM_024446925.1:c.939A>G, NM_001278290.2:c.1032A>G, NM_001278290.1:c.1032A>G, NM_001278292.2:c.924A>G, NM_001278292.1:c.924A>G, XM_024446927.2:c.939A>G, XM_024446927.1:c.939A>G, NM_001278291.2:c.924A>G, NM_001278291.1:c.924A>G, NM_001371217.1:c.1053A>G, NM_001371211.1:c.1032A>G, NM_001371213.1:c.1032A>G, NM_001371218.1:c.795A>G, NM_001371212.1:c.1032A>G, NM_001371214.1:c.1032A>G, NM_001371216.1:c.924A>G, NM_001371215.1:c.924A>G

                  9.

                  rs1463722492 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C,T [Show Flanks]
                    Chromosome:
                    7:100071497 (GRCh38)
                    7:99669120 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:100071496:G:C,NC_000007.14:100071496:G:T
                    Gene:
                    ZNF3 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/1 (GnomAD)
                    T=0.000212/6 (TOMMO)
                    T=0.005476/16 (KOREAN)
                    HGVS:
                    NC_000007.14:g.100071497G>C, NC_000007.14:g.100071497G>T, NC_000007.13:g.99669120G>C, NC_000007.13:g.99669120G>T, NM_032924.5:c.987C>G, NM_032924.5:c.987C>A, NM_032924.4:c.987C>G, NM_032924.4:c.987C>A, XM_024446928.2:c.894C>G, XM_024446928.2:c.894C>A, XM_024446928.1:c.894C>G, XM_024446928.1:c.894C>A, NM_001362775.2:c.1008C>G, NM_001362775.2:c.1008C>A, NM_001362775.1:c.1008C>G, NM_001362775.1:c.1008C>A, XM_024446921.2:c.1002C>G, XM_024446921.2:c.1002C>A, XM_024446921.1:c.1002C>G, XM_024446921.1:c.1002C>A, NM_001278284.2:c.987C>G, NM_001278284.2:c.987C>A, NM_001278284.1:c.987C>G, NM_001278284.1:c.987C>A, NM_001278287.2:c.987C>G, NM_001278287.2:c.987C>A, NM_001278287.1:c.987C>G, NM_001278287.1:c.987C>A, NM_001362777.2:c.879C>G, NM_001362777.2:c.879C>A, NM_001362777.1:c.879C>G, NM_001362777.1:c.879C>A, NM_001318136.2:c.1008C>G, NM_001318136.2:c.1008C>A, NM_001318136.1:c.1008C>G, NM_001318136.1:c.1008C>A, XM_024446919.2:c.1002C>G, XM_024446919.2:c.1002C>A, XM_024446919.1:c.1002C>G, XM_024446919.1:c.1002C>A, XM_024446920.2:c.1002C>G, XM_024446920.2:c.1002C>A, XM_024446920.1:c.1002C>G, XM_024446920.1:c.1002C>A, NM_001318135.2:c.987C>G, NM_001318135.2:c.987C>A, NM_001318135.1:c.987C>G, NM_001318135.1:c.987C>A, NM_001362776.2:c.1002C>G, NM_001362776.2:c.1002C>A, NM_001362776.1:c.1002C>G, NM_001362776.1:c.1002C>A, XM_024446925.2:c.894C>G, XM_024446925.2:c.894C>A, XM_024446925.1:c.894C>G, XM_024446925.1:c.894C>A, NM_001278290.2:c.987C>G, NM_001278290.2:c.987C>A, NM_001278290.1:c.987C>G, NM_001278290.1:c.987C>A, NM_001278292.2:c.879C>G, NM_001278292.2:c.879C>A, NM_001278292.1:c.879C>G, NM_001278292.1:c.879C>A, XM_024446927.2:c.894C>G, XM_024446927.2:c.894C>A, XM_024446927.1:c.894C>G, XM_024446927.1:c.894C>A, NM_001278291.2:c.879C>G, NM_001278291.2:c.879C>A, NM_001278291.1:c.879C>G, NM_001278291.1:c.879C>A, NM_001371217.1:c.1008C>G, NM_001371217.1:c.1008C>A, NM_001371211.1:c.987C>G, NM_001371211.1:c.987C>A, NM_001371213.1:c.987C>G, NM_001371213.1:c.987C>A, NM_001371218.1:c.750C>G, NM_001371218.1:c.750C>A, NM_001371212.1:c.987C>G, NM_001371212.1:c.987C>A, NM_001371214.1:c.987C>G, NM_001371214.1:c.987C>A, NM_001371216.1:c.879C>G, NM_001371216.1:c.879C>A, NM_001371215.1:c.879C>G, NM_001371215.1:c.879C>A, NP_116313.3:p.His329Gln, NP_116313.3:p.His329Gln, XP_024302696.1:p.His298Gln, XP_024302696.1:p.His298Gln, NP_001349704.1:p.His336Gln, NP_001349704.1:p.His336Gln, XP_024302689.1:p.His334Gln, XP_024302689.1:p.His334Gln, NP_001265213.1:p.His329Gln, NP_001265213.1:p.His329Gln, NP_001265216.1:p.His329Gln, NP_001265216.1:p.His329Gln, NP_001349706.1:p.His293Gln, NP_001349706.1:p.His293Gln, NP_001305065.1:p.His336Gln, NP_001305065.1:p.His336Gln, XP_024302687.1:p.His334Gln, XP_024302687.1:p.His334Gln, XP_024302688.1:p.His334Gln, XP_024302688.1:p.His334Gln, NP_001305064.1:p.His329Gln, NP_001305064.1:p.His329Gln, NP_001349705.1:p.His334Gln, NP_001349705.1:p.His334Gln, XP_024302693.1:p.His298Gln, XP_024302693.1:p.His298Gln, NP_001265219.1:p.His329Gln, NP_001265219.1:p.His329Gln, NP_001265221.1:p.His293Gln, NP_001265221.1:p.His293Gln, XP_024302695.1:p.His298Gln, XP_024302695.1:p.His298Gln, NP_001265220.1:p.His293Gln, NP_001265220.1:p.His293Gln, NP_001358146.1:p.His336Gln, NP_001358146.1:p.His336Gln, NP_001358140.1:p.His329Gln, NP_001358140.1:p.His329Gln, NP_001358142.1:p.His329Gln, NP_001358142.1:p.His329Gln, NP_001358147.1:p.His250Gln, NP_001358147.1:p.His250Gln, NP_001358141.1:p.His329Gln, NP_001358141.1:p.His329Gln, NP_001358143.1:p.His329Gln, NP_001358143.1:p.His329Gln, NP_001358145.1:p.His293Gln, NP_001358145.1:p.His293Gln, NP_001358144.1:p.His293Gln, NP_001358144.1:p.His293Gln

                    10.

                    rs1461732453 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      7:100071860 (GRCh38)
                      7:99669483 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:100071859:G:A
                      Gene:
                      ZNF3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000007.14:g.100071860G>A, NC_000007.13:g.99669483G>A, NM_032924.5:c.624C>T, NM_032924.4:c.624C>T, XM_024446928.2:c.531C>T, XM_024446928.1:c.531C>T, NM_001362775.2:c.645C>T, NM_001362775.1:c.645C>T, XM_024446921.2:c.639C>T, XM_024446921.1:c.639C>T, NM_001278284.2:c.624C>T, NM_001278284.1:c.624C>T, NM_001278287.2:c.624C>T, NM_001278287.1:c.624C>T, NM_001362777.2:c.516C>T, NM_001362777.1:c.516C>T, NM_001318136.2:c.645C>T, NM_001318136.1:c.645C>T, XM_024446919.2:c.639C>T, XM_024446919.1:c.639C>T, XM_024446920.2:c.639C>T, XM_024446920.1:c.639C>T, NM_001318135.2:c.624C>T, NM_001318135.1:c.624C>T, NM_001362776.2:c.639C>T, NM_001362776.1:c.639C>T, XM_024446925.2:c.531C>T, XM_024446925.1:c.531C>T, NM_001278290.2:c.624C>T, NM_001278290.1:c.624C>T, NM_001278292.2:c.516C>T, NM_001278292.1:c.516C>T, XM_024446927.2:c.531C>T, XM_024446927.1:c.531C>T, NM_001278291.2:c.516C>T, NM_001278291.1:c.516C>T, NM_001371217.1:c.645C>T, NM_001371211.1:c.624C>T, NM_001371213.1:c.624C>T, NM_001371218.1:c.387C>T, NM_001371212.1:c.624C>T, NM_001371214.1:c.624C>T, NM_001371216.1:c.516C>T, NM_001371215.1:c.516C>T

                      11.

                      rs1461192409 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        7:100071569 (GRCh38)
                        7:99669192 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:100071568:G:T
                        Gene:
                        ZNF3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000007.14:g.100071569G>T, NC_000007.13:g.99669192G>T, NM_032924.5:c.915C>A, NM_032924.4:c.915C>A, XM_024446928.2:c.822C>A, XM_024446928.1:c.822C>A, NM_001362775.2:c.936C>A, NM_001362775.1:c.936C>A, XM_024446921.2:c.930C>A, XM_024446921.1:c.930C>A, NM_001278284.2:c.915C>A, NM_001278284.1:c.915C>A, NM_001278287.2:c.915C>A, NM_001278287.1:c.915C>A, NM_001362777.2:c.807C>A, NM_001362777.1:c.807C>A, NM_001318136.2:c.936C>A, NM_001318136.1:c.936C>A, XM_024446919.2:c.930C>A, XM_024446919.1:c.930C>A, XM_024446920.2:c.930C>A, XM_024446920.1:c.930C>A, NM_001318135.2:c.915C>A, NM_001318135.1:c.915C>A, NM_001362776.2:c.930C>A, NM_001362776.1:c.930C>A, XM_024446925.2:c.822C>A, XM_024446925.1:c.822C>A, NM_001278290.2:c.915C>A, NM_001278290.1:c.915C>A, NM_001278292.2:c.807C>A, NM_001278292.1:c.807C>A, XM_024446927.2:c.822C>A, XM_024446927.1:c.822C>A, NM_001278291.2:c.807C>A, NM_001278291.1:c.807C>A, NM_001371217.1:c.936C>A, NM_001371211.1:c.915C>A, NM_001371213.1:c.915C>A, NM_001371218.1:c.678C>A, NM_001371212.1:c.915C>A, NM_001371214.1:c.915C>A, NM_001371216.1:c.807C>A, NM_001371215.1:c.807C>A

                        12.

                        rs1460288579 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          7:100075550 (GRCh38)
                          7:99673173 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:100075549:T:C
                          Gene:
                          ZNF3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000342/1 (KOREAN)
                          HGVS:
                          NC_000007.14:g.100075550T>C, NC_000007.13:g.99673173T>C, NM_032924.5:c.136A>G, NM_032924.4:c.136A>G, NM_017715.4:c.136A>G, NM_017715.3:c.136A>G, XM_024446928.2:c.28A>G, XM_024446928.1:c.28A>G, NM_001362775.2:c.-124A>G, NM_001362775.1:c.-124A>G, XM_024446921.2:c.136A>G, XM_024446921.1:c.136A>G, NM_001278284.2:c.136A>G, NM_001278284.1:c.136A>G, NM_001278287.2:c.136A>G, NM_001278287.1:c.136A>G, NM_001362777.2:c.28A>G, NM_001362777.1:c.28A>G, NM_001318136.2:c.-124A>G, NM_001318136.1:c.-124A>G, XM_024446919.2:c.136A>G, XM_024446919.1:c.136A>G, XM_024446920.2:c.136A>G, XM_024446920.1:c.136A>G, NM_001318135.2:c.136A>G, NM_001318135.1:c.136A>G, NM_001362776.2:c.136A>G, NM_001362776.1:c.136A>G, XM_024446925.2:c.28A>G, XM_024446925.1:c.28A>G, NM_001278290.2:c.136A>G, NM_001278290.1:c.136A>G, NM_001278292.2:c.28A>G, NM_001278292.1:c.28A>G, XM_024446927.2:c.28A>G, XM_024446927.1:c.28A>G, NM_001278291.2:c.28A>G, NM_001278291.1:c.28A>G, NM_001318137.2:c.28A>G, NM_001318137.1:c.28A>G, NM_001371217.1:c.-124A>G, NM_001371211.1:c.136A>G, NM_001371213.1:c.136A>G, NM_001371218.1:c.-169A>G, NM_001371212.1:c.136A>G, NM_001371214.1:c.136A>G, NM_001371216.1:c.28A>G, NM_001371215.1:c.28A>G, XM_047420802.1:c.136A>G, NM_001371210.1:c.136A>G, NP_116313.3:p.Lys46Glu, NP_060185.2:p.Lys46Glu, XP_024302696.1:p.Lys10Glu, XP_024302689.1:p.Lys46Glu, NP_001265213.1:p.Lys46Glu, NP_001265216.1:p.Lys46Glu, NP_001349706.1:p.Lys10Glu, XP_024302687.1:p.Lys46Glu, XP_024302688.1:p.Lys46Glu, NP_001305064.1:p.Lys46Glu, NP_001349705.1:p.Lys46Glu, XP_024302693.1:p.Lys10Glu, NP_001265219.1:p.Lys46Glu, NP_001265221.1:p.Lys10Glu, XP_024302695.1:p.Lys10Glu, NP_001265220.1:p.Lys10Glu, NP_001305066.1:p.Lys10Glu, NP_001358140.1:p.Lys46Glu, NP_001358142.1:p.Lys46Glu, NP_001358141.1:p.Lys46Glu, NP_001358143.1:p.Lys46Glu, NP_001358145.1:p.Lys10Glu, NP_001358144.1:p.Lys10Glu, XP_047276758.1:p.Lys46Glu, NP_001358139.1:p.Lys46Glu

                          13.

                          rs1455345609 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            7:100072178 (GRCh38)
                            7:99669801 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:100072177:A:C
                            Gene:
                            ZNF3 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000007.14:g.100072178A>C, NC_000007.13:g.99669801A>C, NM_032924.5:c.306T>G, NM_032924.4:c.306T>G, XM_024446928.2:c.213T>G, XM_024446928.1:c.213T>G, NM_001362775.2:c.327T>G, NM_001362775.1:c.327T>G, XM_024446921.2:c.321T>G, XM_024446921.1:c.321T>G, NM_001278284.2:c.306T>G, NM_001278284.1:c.306T>G, NM_001278287.2:c.306T>G, NM_001278287.1:c.306T>G, NM_001362777.2:c.198T>G, NM_001362777.1:c.198T>G, NM_001318136.2:c.327T>G, NM_001318136.1:c.327T>G, XM_024446919.2:c.321T>G, XM_024446919.1:c.321T>G, XM_024446920.2:c.321T>G, XM_024446920.1:c.321T>G, NM_001318135.2:c.306T>G, NM_001318135.1:c.306T>G, NM_001362776.2:c.321T>G, NM_001362776.1:c.321T>G, XM_024446925.2:c.213T>G, XM_024446925.1:c.213T>G, NM_001278290.2:c.306T>G, NM_001278290.1:c.306T>G, NM_001278292.2:c.198T>G, NM_001278292.1:c.198T>G, XM_024446927.2:c.213T>G, XM_024446927.1:c.213T>G, NM_001278291.2:c.198T>G, NM_001278291.1:c.198T>G, NM_001371217.1:c.327T>G, NM_001371211.1:c.306T>G, NM_001371213.1:c.306T>G, NM_001371218.1:c.69T>G, NM_001371212.1:c.306T>G, NM_001371214.1:c.306T>G, NM_001371216.1:c.198T>G, NM_001371215.1:c.198T>G, NP_116313.3:p.Ile102Met, XP_024302696.1:p.Ile71Met, NP_001349704.1:p.Ile109Met, XP_024302689.1:p.Ile107Met, NP_001265213.1:p.Ile102Met, NP_001265216.1:p.Ile102Met, NP_001349706.1:p.Ile66Met, NP_001305065.1:p.Ile109Met, XP_024302687.1:p.Ile107Met, XP_024302688.1:p.Ile107Met, NP_001305064.1:p.Ile102Met, NP_001349705.1:p.Ile107Met, XP_024302693.1:p.Ile71Met, NP_001265219.1:p.Ile102Met, NP_001265221.1:p.Ile66Met, XP_024302695.1:p.Ile71Met, NP_001265220.1:p.Ile66Met, NP_001358146.1:p.Ile109Met, NP_001358140.1:p.Ile102Met, NP_001358142.1:p.Ile102Met, NP_001358147.1:p.Ile23Met, NP_001358141.1:p.Ile102Met, NP_001358143.1:p.Ile102Met, NP_001358145.1:p.Ile66Met, NP_001358144.1:p.Ile66Met

                            14.

                            rs1452184063 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              7:100072095 (GRCh38)
                              7:99669718 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:100072094:T:C
                              Gene:
                              ZNF3 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000007.14:g.100072095T>C, NC_000007.13:g.99669718T>C, NM_032924.5:c.389A>G, NM_032924.4:c.389A>G, XM_024446928.2:c.296A>G, XM_024446928.1:c.296A>G, NM_001362775.2:c.410A>G, NM_001362775.1:c.410A>G, XM_024446921.2:c.404A>G, XM_024446921.1:c.404A>G, NM_001278284.2:c.389A>G, NM_001278284.1:c.389A>G, NM_001278287.2:c.389A>G, NM_001278287.1:c.389A>G, NM_001362777.2:c.281A>G, NM_001362777.1:c.281A>G, NM_001318136.2:c.410A>G, NM_001318136.1:c.410A>G, XM_024446919.2:c.404A>G, XM_024446919.1:c.404A>G, XM_024446920.2:c.404A>G, XM_024446920.1:c.404A>G, NM_001318135.2:c.389A>G, NM_001318135.1:c.389A>G, NM_001362776.2:c.404A>G, NM_001362776.1:c.404A>G, XM_024446925.2:c.296A>G, XM_024446925.1:c.296A>G, NM_001278290.2:c.389A>G, NM_001278290.1:c.389A>G, NM_001278292.2:c.281A>G, NM_001278292.1:c.281A>G, XM_024446927.2:c.296A>G, XM_024446927.1:c.296A>G, NM_001278291.2:c.281A>G, NM_001278291.1:c.281A>G, NM_001371217.1:c.410A>G, NM_001371211.1:c.389A>G, NM_001371213.1:c.389A>G, NM_001371218.1:c.152A>G, NM_001371212.1:c.389A>G, NM_001371214.1:c.389A>G, NM_001371216.1:c.281A>G, NM_001371215.1:c.281A>G, NP_116313.3:p.Tyr130Cys, XP_024302696.1:p.Tyr99Cys, NP_001349704.1:p.Tyr137Cys, XP_024302689.1:p.Tyr135Cys, NP_001265213.1:p.Tyr130Cys, NP_001265216.1:p.Tyr130Cys, NP_001349706.1:p.Tyr94Cys, NP_001305065.1:p.Tyr137Cys, XP_024302687.1:p.Tyr135Cys, XP_024302688.1:p.Tyr135Cys, NP_001305064.1:p.Tyr130Cys, NP_001349705.1:p.Tyr135Cys, XP_024302693.1:p.Tyr99Cys, NP_001265219.1:p.Tyr130Cys, NP_001265221.1:p.Tyr94Cys, XP_024302695.1:p.Tyr99Cys, NP_001265220.1:p.Tyr94Cys, NP_001358146.1:p.Tyr137Cys, NP_001358140.1:p.Tyr130Cys, NP_001358142.1:p.Tyr130Cys, NP_001358147.1:p.Tyr51Cys, NP_001358141.1:p.Tyr130Cys, NP_001358143.1:p.Tyr130Cys, NP_001358145.1:p.Tyr94Cys, NP_001358144.1:p.Tyr94Cys

                              15.

                              rs1445741994 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                7:100071530 (GRCh38)
                                7:99669153 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:100071529:C:T
                                Gene:
                                ZNF3 (Varview)
                                Functional Consequence:
                                synonymous_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000007.14:g.100071530C>T, NC_000007.13:g.99669153C>T, NM_032924.5:c.954G>A, NM_032924.4:c.954G>A, XM_024446928.2:c.861G>A, XM_024446928.1:c.861G>A, NM_001362775.2:c.975G>A, NM_001362775.1:c.975G>A, XM_024446921.2:c.969G>A, XM_024446921.1:c.969G>A, NM_001278284.2:c.954G>A, NM_001278284.1:c.954G>A, NM_001278287.2:c.954G>A, NM_001278287.1:c.954G>A, NM_001362777.2:c.846G>A, NM_001362777.1:c.846G>A, NM_001318136.2:c.975G>A, NM_001318136.1:c.975G>A, XM_024446919.2:c.969G>A, XM_024446919.1:c.969G>A, XM_024446920.2:c.969G>A, XM_024446920.1:c.969G>A, NM_001318135.2:c.954G>A, NM_001318135.1:c.954G>A, NM_001362776.2:c.969G>A, NM_001362776.1:c.969G>A, XM_024446925.2:c.861G>A, XM_024446925.1:c.861G>A, NM_001278290.2:c.954G>A, NM_001278290.1:c.954G>A, NM_001278292.2:c.846G>A, NM_001278292.1:c.846G>A, XM_024446927.2:c.861G>A, XM_024446927.1:c.861G>A, NM_001278291.2:c.846G>A, NM_001278291.1:c.846G>A, NM_001371217.1:c.975G>A, NM_001371211.1:c.954G>A, NM_001371213.1:c.954G>A, NM_001371218.1:c.717G>A, NM_001371212.1:c.954G>A, NM_001371214.1:c.954G>A, NM_001371216.1:c.846G>A, NM_001371215.1:c.846G>A

                                16.

                                rs1444676163 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  7:100075247 (GRCh38)
                                  7:99672870 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:100075246:A:C
                                  Gene:
                                  ZNF3 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,missense_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)
                                  HGVS:
                                  NC_000007.14:g.100075247A>C, NC_000007.13:g.99672870A>C, NM_032924.5:c.159T>G, NM_032924.4:c.159T>G, NM_017715.4:c.159T>G, NM_017715.3:c.159T>G, XM_024446928.2:c.66T>G, XM_024446928.1:c.66T>G, NM_001362775.2:c.180T>G, NM_001362775.1:c.180T>G, XM_024446921.2:c.174T>G, XM_024446921.1:c.174T>G, NM_001278284.2:c.159T>G, NM_001278284.1:c.159T>G, NM_001278287.2:c.159T>G, NM_001278287.1:c.159T>G, NM_001362777.2:c.51T>G, NM_001362777.1:c.51T>G, NM_001318136.2:c.180T>G, NM_001318136.1:c.180T>G, XM_024446919.2:c.174T>G, XM_024446919.1:c.174T>G, XM_024446920.2:c.174T>G, XM_024446920.1:c.174T>G, NM_001318135.2:c.159T>G, NM_001318135.1:c.159T>G, NM_001362776.2:c.174T>G, NM_001362776.1:c.174T>G, XM_024446925.2:c.66T>G, XM_024446925.1:c.66T>G, NM_001278290.2:c.159T>G, NM_001278290.1:c.159T>G, NM_001278292.2:c.51T>G, NM_001278292.1:c.51T>G, XM_024446927.2:c.66T>G, XM_024446927.1:c.66T>G, NM_001278291.2:c.51T>G, NM_001278291.1:c.51T>G, NM_001318137.2:c.51T>G, NM_001318137.1:c.51T>G, NM_001371217.1:c.180T>G, NM_001371211.1:c.159T>G, NM_001371213.1:c.159T>G, NM_001371218.1:c.-79T>G, NM_001371212.1:c.159T>G, NM_001371214.1:c.159T>G, NM_001371216.1:c.51T>G, NM_001371215.1:c.51T>G, XM_047420802.1:c.159T>G, NM_001371210.1:c.159T>G, NP_116313.3:p.Phe53Leu, NP_060185.2:p.Phe53Leu, XP_024302696.1:p.Phe22Leu, NP_001349704.1:p.Phe60Leu, XP_024302689.1:p.Phe58Leu, NP_001265213.1:p.Phe53Leu, NP_001265216.1:p.Phe53Leu, NP_001349706.1:p.Phe17Leu, NP_001305065.1:p.Phe60Leu, XP_024302687.1:p.Phe58Leu, XP_024302688.1:p.Phe58Leu, NP_001305064.1:p.Phe53Leu, NP_001349705.1:p.Phe58Leu, XP_024302693.1:p.Phe22Leu, NP_001265219.1:p.Phe53Leu, NP_001265221.1:p.Phe17Leu, XP_024302695.1:p.Phe22Leu, NP_001265220.1:p.Phe17Leu, NP_001305066.1:p.Phe17Leu, NP_001358146.1:p.Phe60Leu, NP_001358140.1:p.Phe53Leu, NP_001358142.1:p.Phe53Leu, NP_001358141.1:p.Phe53Leu, NP_001358143.1:p.Phe53Leu, NP_001358145.1:p.Phe17Leu, NP_001358144.1:p.Phe17Leu, XP_047276758.1:p.Phe53Leu, NP_001358139.1:p.Phe53Leu

                                  17.

                                  rs1443567574 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    7:100071260 (GRCh38)
                                    7:99668883 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:100071259:G:A
                                    Gene:
                                    ZNF3 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000007.14:g.100071260G>A, NC_000007.13:g.99668883G>A, NM_032924.5:c.1224C>T, NM_032924.4:c.1224C>T, XM_024446928.2:c.1131C>T, XM_024446928.1:c.1131C>T, NM_001362775.2:c.1245C>T, NM_001362775.1:c.1245C>T, XM_024446921.2:c.1239C>T, XM_024446921.1:c.1239C>T, NM_001278284.2:c.1224C>T, NM_001278284.1:c.1224C>T, NM_001278287.2:c.1224C>T, NM_001278287.1:c.1224C>T, NM_001362777.2:c.1116C>T, NM_001362777.1:c.1116C>T, NM_001318136.2:c.1245C>T, NM_001318136.1:c.1245C>T, XM_024446919.2:c.1239C>T, XM_024446919.1:c.1239C>T, XM_024446920.2:c.1239C>T, XM_024446920.1:c.1239C>T, NM_001318135.2:c.1224C>T, NM_001318135.1:c.1224C>T, NM_001362776.2:c.1239C>T, NM_001362776.1:c.1239C>T, XM_024446925.2:c.1131C>T, XM_024446925.1:c.1131C>T, NM_001278290.2:c.1224C>T, NM_001278290.1:c.1224C>T, NM_001278292.2:c.1116C>T, NM_001278292.1:c.1116C>T, XM_024446927.2:c.1131C>T, XM_024446927.1:c.1131C>T, NM_001278291.2:c.1116C>T, NM_001278291.1:c.1116C>T, NM_001371217.1:c.1245C>T, NM_001371211.1:c.1224C>T, NM_001371213.1:c.1224C>T, NM_001371218.1:c.987C>T, NM_001371212.1:c.1224C>T, NM_001371214.1:c.1224C>T, NM_001371216.1:c.1116C>T, NM_001371215.1:c.1116C>T

                                    18.

                                    rs1441382612 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      7:100071767 (GRCh38)
                                      7:99669390 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:100071766:C:T
                                      Gene:
                                      ZNF3 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,intron_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000007.14:g.100071767C>T, NC_000007.13:g.99669390C>T, NM_032924.5:c.717G>A, NM_032924.4:c.717G>A, XM_024446928.2:c.624G>A, XM_024446928.1:c.624G>A, NM_001362775.2:c.738G>A, NM_001362775.1:c.738G>A, XM_024446921.2:c.732G>A, XM_024446921.1:c.732G>A, NM_001278284.2:c.717G>A, NM_001278284.1:c.717G>A, NM_001278287.2:c.717G>A, NM_001278287.1:c.717G>A, NM_001362777.2:c.609G>A, NM_001362777.1:c.609G>A, NM_001318136.2:c.738G>A, NM_001318136.1:c.738G>A, XM_024446919.2:c.732G>A, XM_024446919.1:c.732G>A, XM_024446920.2:c.732G>A, XM_024446920.1:c.732G>A, NM_001318135.2:c.717G>A, NM_001318135.1:c.717G>A, NM_001362776.2:c.732G>A, NM_001362776.1:c.732G>A, XM_024446925.2:c.624G>A, XM_024446925.1:c.624G>A, NM_001278290.2:c.717G>A, NM_001278290.1:c.717G>A, NM_001278292.2:c.609G>A, NM_001278292.1:c.609G>A, XM_024446927.2:c.624G>A, XM_024446927.1:c.624G>A, NM_001278291.2:c.609G>A, NM_001278291.1:c.609G>A, NM_001371217.1:c.738G>A, NM_001371211.1:c.717G>A, NM_001371213.1:c.717G>A, NM_001371218.1:c.480G>A, NM_001371212.1:c.717G>A, NM_001371214.1:c.717G>A, NM_001371216.1:c.609G>A, NM_001371215.1:c.609G>A

                                      19.

                                      rs1439709519 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        7:100075208 (GRCh38)
                                        7:99672831 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:100075207:C:T
                                        Gene:
                                        ZNF3 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000007.14:g.100075208C>T, NC_000007.13:g.99672831C>T, NM_032924.5:c.198G>A, NM_032924.4:c.198G>A, NM_017715.4:c.198G>A, NM_017715.3:c.198G>A, XM_024446928.2:c.105G>A, XM_024446928.1:c.105G>A, NM_001362775.2:c.219G>A, NM_001362775.1:c.219G>A, XM_024446921.2:c.213G>A, XM_024446921.1:c.213G>A, NM_001278284.2:c.198G>A, NM_001278284.1:c.198G>A, NM_001278287.2:c.198G>A, NM_001278287.1:c.198G>A, NM_001362777.2:c.90G>A, NM_001362777.1:c.90G>A, NM_001318136.2:c.219G>A, NM_001318136.1:c.219G>A, XM_024446919.2:c.213G>A, XM_024446919.1:c.213G>A, XM_024446920.2:c.213G>A, XM_024446920.1:c.213G>A, NM_001318135.2:c.198G>A, NM_001318135.1:c.198G>A, NM_001362776.2:c.213G>A, NM_001362776.1:c.213G>A, XM_024446925.2:c.105G>A, XM_024446925.1:c.105G>A, NM_001278290.2:c.198G>A, NM_001278290.1:c.198G>A, NM_001278292.2:c.90G>A, NM_001278292.1:c.90G>A, XM_024446927.2:c.105G>A, XM_024446927.1:c.105G>A, NM_001278291.2:c.90G>A, NM_001278291.1:c.90G>A, NM_001318137.2:c.90G>A, NM_001318137.1:c.90G>A, NM_001371217.1:c.219G>A, NM_001371211.1:c.198G>A, NM_001371213.1:c.198G>A, NM_001371218.1:c.-40G>A, NM_001371212.1:c.198G>A, NM_001371214.1:c.198G>A, NM_001371216.1:c.90G>A, NM_001371215.1:c.90G>A, XM_047420802.1:c.198G>A, NM_001371210.1:c.198G>A

                                        20.

                                        rs1435988687 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          7:100072110 (GRCh38)
                                          7:99669733 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:100072109:T:G
                                          Gene:
                                          ZNF3 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000007.14:g.100072110T>G, NC_000007.13:g.99669733T>G, NM_032924.5:c.374A>C, NM_032924.4:c.374A>C, XM_024446928.2:c.281A>C, XM_024446928.1:c.281A>C, NM_001362775.2:c.395A>C, NM_001362775.1:c.395A>C, XM_024446921.2:c.389A>C, XM_024446921.1:c.389A>C, NM_001278284.2:c.374A>C, NM_001278284.1:c.374A>C, NM_001278287.2:c.374A>C, NM_001278287.1:c.374A>C, NM_001362777.2:c.266A>C, NM_001362777.1:c.266A>C, NM_001318136.2:c.395A>C, NM_001318136.1:c.395A>C, XM_024446919.2:c.389A>C, XM_024446919.1:c.389A>C, XM_024446920.2:c.389A>C, XM_024446920.1:c.389A>C, NM_001318135.2:c.374A>C, NM_001318135.1:c.374A>C, NM_001362776.2:c.389A>C, NM_001362776.1:c.389A>C, XM_024446925.2:c.281A>C, XM_024446925.1:c.281A>C, NM_001278290.2:c.374A>C, NM_001278290.1:c.374A>C, NM_001278292.2:c.266A>C, NM_001278292.1:c.266A>C, XM_024446927.2:c.281A>C, XM_024446927.1:c.281A>C, NM_001278291.2:c.266A>C, NM_001278291.1:c.266A>C, NM_001371217.1:c.395A>C, NM_001371211.1:c.374A>C, NM_001371213.1:c.374A>C, NM_001371218.1:c.137A>C, NM_001371212.1:c.374A>C, NM_001371214.1:c.374A>C, NM_001371216.1:c.266A>C, NM_001371215.1:c.266A>C, NP_116313.3:p.Lys125Thr, XP_024302696.1:p.Lys94Thr, NP_001349704.1:p.Lys132Thr, XP_024302689.1:p.Lys130Thr, NP_001265213.1:p.Lys125Thr, NP_001265216.1:p.Lys125Thr, NP_001349706.1:p.Lys89Thr, NP_001305065.1:p.Lys132Thr, XP_024302687.1:p.Lys130Thr, XP_024302688.1:p.Lys130Thr, NP_001305064.1:p.Lys125Thr, NP_001349705.1:p.Lys130Thr, XP_024302693.1:p.Lys94Thr, NP_001265219.1:p.Lys125Thr, NP_001265221.1:p.Lys89Thr, XP_024302695.1:p.Lys94Thr, NP_001265220.1:p.Lys89Thr, NP_001358146.1:p.Lys132Thr, NP_001358140.1:p.Lys125Thr, NP_001358142.1:p.Lys125Thr, NP_001358147.1:p.Lys46Thr, NP_001358141.1:p.Lys125Thr, NP_001358143.1:p.Lys125Thr, NP_001358145.1:p.Lys89Thr, NP_001358144.1:p.Lys89Thr

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