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Items: 1 to 20 of 322

1.

rs1484941874 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    2:179483380 (GRCh38)
    2:180348107 (GRCh37)
    Canonical SPDI:
    NC_000002.12:179483379:G:C
    Gene:
    ZNF385B (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000002.12:g.179483380G>C, NC_000002.11:g.180348107G>C, NM_152520.6:c.607C>G, NM_152520.5:c.607C>G, NM_152520.4:c.562C>G, NM_001282725.3:c.256C>G, NM_001282725.2:c.256C>G, NM_001282725.1:c.256C>G, NM_001113398.3:c.256C>G, NM_001113398.2:c.256C>G, NM_001113398.1:c.256C>G, NM_001352809.2:c.745C>G, NM_001352809.1:c.745C>G, NM_001352808.2:c.607C>G, NM_001352808.1:c.607C>G, NM_001352810.2:c.607C>G, NM_001352810.1:c.607C>G, NM_001352811.2:c.646C>G, NM_001352811.1:c.646C>G, NR_148058.2:n.1312C>G, NR_148058.1:n.1205C>G, NR_148056.2:n.1273C>G, NR_148056.1:n.1166C>G, NM_001352816.2:c.220C>G, NM_001352816.1:c.220C>G, NM_001113397.2:c.334C>G, NM_001113397.1:c.334C>G, NM_001352813.2:c.256C>G, NM_001352813.1:c.256C>G, NM_001352812.2:c.358C>G, NM_001352812.1:c.358C>G, NM_001352814.2:c.256C>G, NM_001352814.1:c.256C>G, NR_104234.2:n.837C>G, NR_104234.1:n.837C>G, NM_001352815.1:c.256C>G, NM_001352817.1:c.166C>G, NR_049778.1:n.591C>G, NP_689733.4:p.Leu203Val, NP_001269654.1:p.Leu86Val, NP_001106869.1:p.Leu86Val, NP_001339738.1:p.Leu249Val, NP_001339737.1:p.Leu203Val, NP_001339739.1:p.Leu203Val, NP_001339740.1:p.Leu216Val, NP_001339745.1:p.Leu74Val, NP_001106868.1:p.Leu112Val, NP_001339742.1:p.Leu86Val, NP_001339741.1:p.Leu120Val, NP_001339743.1:p.Leu86Val, NP_001339744.1:p.Leu86Val, NP_001339746.1:p.Leu56Val

    2.

    rs1483594248 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      2:179446708 (GRCh38)
      2:180311435 (GRCh37)
      Canonical SPDI:
      NC_000002.12:179446707:A:G
      Gene:
      ZNF385B (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      G=0.000008/2 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.179446708A>G, NC_000002.11:g.180311435A>G, NM_152520.6:c.778T>C, NM_152520.5:c.778T>C, NM_152520.4:c.733T>C, NM_001282725.3:c.427T>C, NM_001282725.2:c.427T>C, NM_001282725.1:c.427T>C, NM_001113398.3:c.427T>C, NM_001113398.2:c.427T>C, NM_001113398.1:c.427T>C, NM_001352809.2:c.916T>C, NM_001352809.1:c.916T>C, NM_001352808.2:c.778T>C, NM_001352808.1:c.778T>C, NM_001352810.2:c.859T>C, NM_001352810.1:c.859T>C, NM_001352811.2:c.817T>C, NM_001352811.1:c.817T>C, NR_148058.2:n.1483T>C, NR_148058.1:n.1376T>C, NR_148056.2:n.1444T>C, NR_148056.1:n.1337T>C, NM_001352816.2:c.391T>C, NM_001352816.1:c.391T>C, NR_148054.2:n.1281T>C, NR_148054.1:n.1174T>C, NM_001113397.2:c.505T>C, NM_001113397.1:c.505T>C, NR_148057.2:n.1138T>C, NR_148057.1:n.1031T>C, NM_001352813.2:c.427T>C, NM_001352813.1:c.427T>C, NM_001352812.2:c.529T>C, NM_001352812.1:c.529T>C, NM_001352814.2:c.427T>C, NM_001352814.1:c.427T>C, NR_148055.2:n.507T>C, NR_148055.1:n.510T>C, NR_104234.2:n.1008T>C, NR_104234.1:n.1008T>C, NM_001352815.1:c.427T>C, NM_001352817.1:c.337T>C, NR_148059.1:n.972T>C, NR_049778.1:n.762T>C, NP_689733.4:p.Phe260Leu, NP_001269654.1:p.Phe143Leu, NP_001106869.1:p.Phe143Leu, NP_001339738.1:p.Phe306Leu, NP_001339737.1:p.Phe260Leu, NP_001339739.1:p.Phe287Leu, NP_001339740.1:p.Phe273Leu, NP_001339745.1:p.Phe131Leu, NP_001106868.1:p.Phe169Leu, NP_001339742.1:p.Phe143Leu, NP_001339741.1:p.Phe177Leu, NP_001339743.1:p.Phe143Leu, NP_001339744.1:p.Phe143Leu, NP_001339746.1:p.Phe113Leu

      3.

      rs1482913097 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        2:179443447 (GRCh38)
        2:180308174 (GRCh37)
        Canonical SPDI:
        NC_000002.12:179443446:C:T
        Gene:
        ZNF385B (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,coding_sequence_variant
        HGVS:
        NC_000002.12:g.179443447C>T, NC_000002.11:g.180308174C>T, NG_077074.1:g.306C>T, NM_152520.6:c.1264G>A, NM_152520.5:c.1264G>A, NM_152520.4:c.1219G>A, NM_001282725.3:c.913G>A, NM_001282725.2:c.913G>A, NM_001282725.1:c.913G>A, NM_001113398.3:c.913G>A, NM_001113398.2:c.913G>A, NM_001113398.1:c.913G>A, NM_001352809.2:c.1402G>A, NM_001352809.1:c.1402G>A, NM_001352808.2:c.1264G>A, NM_001352808.1:c.1264G>A, NM_001352810.2:c.1345G>A, NM_001352810.1:c.1345G>A, NM_001352811.2:c.1303G>A, NM_001352811.1:c.1303G>A, NR_148058.2:n.1958G>A, NR_148058.1:n.1851G>A, NR_148056.2:n.1919G>A, NR_148056.1:n.1812G>A, NM_001352816.2:c.877G>A, NM_001352816.1:c.877G>A, NR_148054.2:n.1767G>A, NR_148054.1:n.1660G>A, NM_001113397.2:c.991G>A, NM_001113397.1:c.991G>A, NR_148057.2:n.1624G>A, NR_148057.1:n.1517G>A, NM_001352813.2:c.913G>A, NM_001352813.1:c.913G>A, NM_001352812.2:c.1015G>A, NM_001352812.1:c.1015G>A, NM_001352814.2:c.913G>A, NM_001352814.1:c.913G>A, NR_148055.2:n.993G>A, NR_148055.1:n.996G>A, NR_104234.2:n.1483G>A, NR_104234.1:n.1483G>A, NM_001352815.1:c.913G>A, NM_001352817.1:c.823G>A, NR_148059.1:n.1458G>A, NR_049778.1:n.1248G>A, NP_689733.4:p.Asp422Asn, NP_001269654.1:p.Asp305Asn, NP_001106869.1:p.Asp305Asn, NP_001339738.1:p.Asp468Asn, NP_001339737.1:p.Asp422Asn, NP_001339739.1:p.Asp449Asn, NP_001339740.1:p.Asp435Asn, NP_001339745.1:p.Asp293Asn, NP_001106868.1:p.Asp331Asn, NP_001339742.1:p.Asp305Asn, NP_001339741.1:p.Asp339Asn, NP_001339743.1:p.Asp305Asn, NP_001339744.1:p.Asp305Asn, NP_001339746.1:p.Asp275Asn

        4.

        rs1479281887 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          2:179446744 (GRCh38)
          2:180311471 (GRCh37)
          Canonical SPDI:
          NC_000002.12:179446743:T:G
          Gene:
          ZNF385B (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          HGVS:
          NC_000002.12:g.179446744T>G, NC_000002.11:g.180311471T>G, NM_152520.6:c.742A>C, NM_152520.5:c.742A>C, NM_152520.4:c.697A>C, NM_001282725.3:c.391A>C, NM_001282725.2:c.391A>C, NM_001282725.1:c.391A>C, NM_001113398.3:c.391A>C, NM_001113398.2:c.391A>C, NM_001113398.1:c.391A>C, NM_001352809.2:c.880A>C, NM_001352809.1:c.880A>C, NM_001352808.2:c.742A>C, NM_001352808.1:c.742A>C, NM_001352810.2:c.823A>C, NM_001352810.1:c.823A>C, NM_001352811.2:c.781A>C, NM_001352811.1:c.781A>C, NR_148058.2:n.1447A>C, NR_148058.1:n.1340A>C, NR_148056.2:n.1408A>C, NR_148056.1:n.1301A>C, NM_001352816.2:c.355A>C, NM_001352816.1:c.355A>C, NR_148054.2:n.1245A>C, NR_148054.1:n.1138A>C, NM_001113397.2:c.469A>C, NM_001113397.1:c.469A>C, NR_148057.2:n.1102A>C, NR_148057.1:n.995A>C, NM_001352813.2:c.391A>C, NM_001352813.1:c.391A>C, NM_001352812.2:c.493A>C, NM_001352812.1:c.493A>C, NM_001352814.2:c.391A>C, NM_001352814.1:c.391A>C, NR_148055.2:n.471A>C, NR_148055.1:n.474A>C, NR_104234.2:n.972A>C, NR_104234.1:n.972A>C, NM_001352815.1:c.391A>C, NM_001352817.1:c.301A>C, NR_148059.1:n.936A>C, NR_049778.1:n.726A>C, NP_689733.4:p.Ser248Arg, NP_001269654.1:p.Ser131Arg, NP_001106869.1:p.Ser131Arg, NP_001339738.1:p.Ser294Arg, NP_001339737.1:p.Ser248Arg, NP_001339739.1:p.Ser275Arg, NP_001339740.1:p.Ser261Arg, NP_001339745.1:p.Ser119Arg, NP_001106868.1:p.Ser157Arg, NP_001339742.1:p.Ser131Arg, NP_001339741.1:p.Ser165Arg, NP_001339743.1:p.Ser131Arg, NP_001339744.1:p.Ser131Arg, NP_001339746.1:p.Ser101Arg

          5.

          rs1473949127 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            2:179446635 (GRCh38)
            2:180311362 (GRCh37)
            Canonical SPDI:
            NC_000002.12:179446634:G:A
            Gene:
            ZNF385B (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000002.12:g.179446635G>A, NC_000002.11:g.180311362G>A, NM_152520.6:c.851C>T, NM_152520.5:c.851C>T, NM_152520.4:c.806C>T, NM_001282725.3:c.500C>T, NM_001282725.2:c.500C>T, NM_001282725.1:c.500C>T, NM_001113398.3:c.500C>T, NM_001113398.2:c.500C>T, NM_001113398.1:c.500C>T, NM_001352809.2:c.989C>T, NM_001352809.1:c.989C>T, NM_001352808.2:c.851C>T, NM_001352808.1:c.851C>T, NM_001352810.2:c.932C>T, NM_001352810.1:c.932C>T, NM_001352811.2:c.890C>T, NM_001352811.1:c.890C>T, NR_148058.2:n.1556C>T, NR_148058.1:n.1449C>T, NR_148056.2:n.1517C>T, NR_148056.1:n.1410C>T, NM_001352816.2:c.464C>T, NM_001352816.1:c.464C>T, NR_148054.2:n.1354C>T, NR_148054.1:n.1247C>T, NM_001113397.2:c.578C>T, NM_001113397.1:c.578C>T, NR_148057.2:n.1211C>T, NR_148057.1:n.1104C>T, NM_001352813.2:c.500C>T, NM_001352813.1:c.500C>T, NM_001352812.2:c.602C>T, NM_001352812.1:c.602C>T, NM_001352814.2:c.500C>T, NM_001352814.1:c.500C>T, NR_148055.2:n.580C>T, NR_148055.1:n.583C>T, NR_104234.2:n.1081C>T, NR_104234.1:n.1081C>T, NM_001352815.1:c.500C>T, NM_001352817.1:c.410C>T, NR_148059.1:n.1045C>T, NR_049778.1:n.835C>T, NP_689733.4:p.Ala284Val, NP_001269654.1:p.Ala167Val, NP_001106869.1:p.Ala167Val, NP_001339738.1:p.Ala330Val, NP_001339737.1:p.Ala284Val, NP_001339739.1:p.Ala311Val, NP_001339740.1:p.Ala297Val, NP_001339745.1:p.Ala155Val, NP_001106868.1:p.Ala193Val, NP_001339742.1:p.Ala167Val, NP_001339741.1:p.Ala201Val, NP_001339743.1:p.Ala167Val, NP_001339744.1:p.Ala167Val, NP_001339746.1:p.Ala137Val

            6.

            rs1472751576 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              2:179446650 (GRCh38)
              2:180311377 (GRCh37)
              Canonical SPDI:
              NC_000002.12:179446649:T:C
              Gene:
              ZNF385B (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              HGVS:
              NC_000002.12:g.179446650T>C, NC_000002.11:g.180311377T>C, NM_152520.6:c.836A>G, NM_152520.5:c.836A>G, NM_152520.4:c.791A>G, NM_001282725.3:c.485A>G, NM_001282725.2:c.485A>G, NM_001282725.1:c.485A>G, NM_001113398.3:c.485A>G, NM_001113398.2:c.485A>G, NM_001113398.1:c.485A>G, NM_001352809.2:c.974A>G, NM_001352809.1:c.974A>G, NM_001352808.2:c.836A>G, NM_001352808.1:c.836A>G, NM_001352810.2:c.917A>G, NM_001352810.1:c.917A>G, NM_001352811.2:c.875A>G, NM_001352811.1:c.875A>G, NR_148058.2:n.1541A>G, NR_148058.1:n.1434A>G, NR_148056.2:n.1502A>G, NR_148056.1:n.1395A>G, NM_001352816.2:c.449A>G, NM_001352816.1:c.449A>G, NR_148054.2:n.1339A>G, NR_148054.1:n.1232A>G, NM_001113397.2:c.563A>G, NM_001113397.1:c.563A>G, NR_148057.2:n.1196A>G, NR_148057.1:n.1089A>G, NM_001352813.2:c.485A>G, NM_001352813.1:c.485A>G, NM_001352812.2:c.587A>G, NM_001352812.1:c.587A>G, NM_001352814.2:c.485A>G, NM_001352814.1:c.485A>G, NR_148055.2:n.565A>G, NR_148055.1:n.568A>G, NR_104234.2:n.1066A>G, NR_104234.1:n.1066A>G, NM_001352815.1:c.485A>G, NM_001352817.1:c.395A>G, NR_148059.1:n.1030A>G, NR_049778.1:n.820A>G, NP_689733.4:p.Lys279Arg, NP_001269654.1:p.Lys162Arg, NP_001106869.1:p.Lys162Arg, NP_001339738.1:p.Lys325Arg, NP_001339737.1:p.Lys279Arg, NP_001339739.1:p.Lys306Arg, NP_001339740.1:p.Lys292Arg, NP_001339745.1:p.Lys150Arg, NP_001106868.1:p.Lys188Arg, NP_001339742.1:p.Lys162Arg, NP_001339741.1:p.Lys196Arg, NP_001339743.1:p.Lys162Arg, NP_001339744.1:p.Lys162Arg, NP_001339746.1:p.Lys132Arg

              7.

              rs1472478302 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:179443412 (GRCh38)
                2:180308139 (GRCh37)
                Canonical SPDI:
                NC_000002.12:179443411:G:A
                Gene:
                ZNF385B (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.179443412G>A, NC_000002.11:g.180308139G>A, NG_077074.1:g.271G>A, NM_152520.6:c.1299C>T, NM_152520.5:c.1299C>T, NM_152520.4:c.1254C>T, NM_001282725.3:c.948C>T, NM_001282725.2:c.948C>T, NM_001282725.1:c.948C>T, NM_001113398.3:c.948C>T, NM_001113398.2:c.948C>T, NM_001113398.1:c.948C>T, NM_001352809.2:c.1437C>T, NM_001352809.1:c.1437C>T, NM_001352808.2:c.1299C>T, NM_001352808.1:c.1299C>T, NM_001352810.2:c.1380C>T, NM_001352810.1:c.1380C>T, NM_001352811.2:c.1338C>T, NM_001352811.1:c.1338C>T, NR_148058.2:n.1993C>T, NR_148058.1:n.1886C>T, NR_148056.2:n.1954C>T, NR_148056.1:n.1847C>T, NM_001352816.2:c.912C>T, NM_001352816.1:c.912C>T, NR_148054.2:n.1802C>T, NR_148054.1:n.1695C>T, NM_001113397.2:c.1026C>T, NM_001113397.1:c.1026C>T, NR_148057.2:n.1659C>T, NR_148057.1:n.1552C>T, NM_001352813.2:c.948C>T, NM_001352813.1:c.948C>T, NM_001352812.2:c.1050C>T, NM_001352812.1:c.1050C>T, NM_001352814.2:c.948C>T, NM_001352814.1:c.948C>T, NR_148055.2:n.1028C>T, NR_148055.1:n.1031C>T, NR_104234.2:n.1518C>T, NR_104234.1:n.1518C>T, NM_001352815.1:c.948C>T, NM_001352817.1:c.858C>T, NR_148059.1:n.1493C>T, NR_049778.1:n.1283C>T

                8.

                rs1471966216 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  2:179446720 (GRCh38)
                  2:180311447 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:179446719:C:G
                  Gene:
                  ZNF385B (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000002.12:g.179446720C>G, NC_000002.11:g.180311447C>G, NM_152520.6:c.766G>C, NM_152520.5:c.766G>C, NM_152520.4:c.721G>C, NM_001282725.3:c.415G>C, NM_001282725.2:c.415G>C, NM_001282725.1:c.415G>C, NM_001113398.3:c.415G>C, NM_001113398.2:c.415G>C, NM_001113398.1:c.415G>C, NM_001352809.2:c.904G>C, NM_001352809.1:c.904G>C, NM_001352808.2:c.766G>C, NM_001352808.1:c.766G>C, NM_001352810.2:c.847G>C, NM_001352810.1:c.847G>C, NM_001352811.2:c.805G>C, NM_001352811.1:c.805G>C, NR_148058.2:n.1471G>C, NR_148058.1:n.1364G>C, NR_148056.2:n.1432G>C, NR_148056.1:n.1325G>C, NM_001352816.2:c.379G>C, NM_001352816.1:c.379G>C, NR_148054.2:n.1269G>C, NR_148054.1:n.1162G>C, NM_001113397.2:c.493G>C, NM_001113397.1:c.493G>C, NR_148057.2:n.1126G>C, NR_148057.1:n.1019G>C, NM_001352813.2:c.415G>C, NM_001352813.1:c.415G>C, NM_001352812.2:c.517G>C, NM_001352812.1:c.517G>C, NM_001352814.2:c.415G>C, NM_001352814.1:c.415G>C, NR_148055.2:n.495G>C, NR_148055.1:n.498G>C, NR_104234.2:n.996G>C, NR_104234.1:n.996G>C, NM_001352815.1:c.415G>C, NM_001352817.1:c.325G>C, NR_148059.1:n.960G>C, NR_049778.1:n.750G>C, NP_689733.4:p.Glu256Gln, NP_001269654.1:p.Glu139Gln, NP_001106869.1:p.Glu139Gln, NP_001339738.1:p.Glu302Gln, NP_001339737.1:p.Glu256Gln, NP_001339739.1:p.Glu283Gln, NP_001339740.1:p.Glu269Gln, NP_001339745.1:p.Glu127Gln, NP_001106868.1:p.Glu165Gln, NP_001339742.1:p.Glu139Gln, NP_001339741.1:p.Glu173Gln, NP_001339743.1:p.Glu139Gln, NP_001339744.1:p.Glu139Gln, NP_001339746.1:p.Glu109Gln

                  9.

                  rs1468891303 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    2:179444944 (GRCh38)
                    2:180309671 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:179444943:C:T
                    Gene:
                    ZNF385B (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_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.179444944C>T, NC_000002.11:g.180309671C>T, NM_152520.6:c.1174G>A, NM_152520.5:c.1174G>A, NM_152520.4:c.1129G>A, NM_001282725.3:c.823G>A, NM_001282725.2:c.823G>A, NM_001282725.1:c.823G>A, NM_001113398.3:c.823G>A, NM_001113398.2:c.823G>A, NM_001113398.1:c.823G>A, NM_001352809.2:c.1312G>A, NM_001352809.1:c.1312G>A, NM_001352808.2:c.1174G>A, NM_001352808.1:c.1174G>A, NM_001352810.2:c.1255G>A, NM_001352810.1:c.1255G>A, NM_001352811.2:c.1213G>A, NM_001352811.1:c.1213G>A, NR_148058.2:n.1868G>A, NR_148058.1:n.1761G>A, NR_148056.2:n.1829G>A, NR_148056.1:n.1722G>A, NM_001352816.2:c.787G>A, NM_001352816.1:c.787G>A, NR_148054.2:n.1677G>A, NR_148054.1:n.1570G>A, NM_001113397.2:c.901G>A, NM_001113397.1:c.901G>A, NR_148057.2:n.1534G>A, NR_148057.1:n.1427G>A, NM_001352813.2:c.823G>A, NM_001352813.1:c.823G>A, NM_001352812.2:c.925G>A, NM_001352812.1:c.925G>A, NM_001352814.2:c.823G>A, NM_001352814.1:c.823G>A, NR_148055.2:n.903G>A, NR_148055.1:n.906G>A, NR_104234.2:n.1393G>A, NR_104234.1:n.1393G>A, NM_001352815.1:c.823G>A, NM_001352817.1:c.733G>A, NR_148059.1:n.1368G>A, NR_049778.1:n.1158G>A, NP_689733.4:p.Ala392Thr, NP_001269654.1:p.Ala275Thr, NP_001106869.1:p.Ala275Thr, NP_001339738.1:p.Ala438Thr, NP_001339737.1:p.Ala392Thr, NP_001339739.1:p.Ala419Thr, NP_001339740.1:p.Ala405Thr, NP_001339745.1:p.Ala263Thr, NP_001106868.1:p.Ala301Thr, NP_001339742.1:p.Ala275Thr, NP_001339741.1:p.Ala309Thr, NP_001339743.1:p.Ala275Thr, NP_001339744.1:p.Ala275Thr, NP_001339746.1:p.Ala245Thr

                    10.

                    rs1465871548 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      2:179483400 (GRCh38)
                      2:180348127 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:179483399:T:A
                      Gene:
                      ZNF385B (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.179483400T>A, NC_000002.11:g.180348127T>A, NM_152520.6:c.587A>T, NM_152520.5:c.587A>T, NM_152520.4:c.542A>T, NM_001282725.3:c.236A>T, NM_001282725.2:c.236A>T, NM_001282725.1:c.236A>T, NM_001113398.3:c.236A>T, NM_001113398.2:c.236A>T, NM_001113398.1:c.236A>T, NM_001352809.2:c.725A>T, NM_001352809.1:c.725A>T, NM_001352808.2:c.587A>T, NM_001352808.1:c.587A>T, NM_001352810.2:c.587A>T, NM_001352810.1:c.587A>T, NM_001352811.2:c.626A>T, NM_001352811.1:c.626A>T, NR_148058.2:n.1292A>T, NR_148058.1:n.1185A>T, NR_148056.2:n.1253A>T, NR_148056.1:n.1146A>T, NM_001352816.2:c.200A>T, NM_001352816.1:c.200A>T, NM_001113397.2:c.314A>T, NM_001113397.1:c.314A>T, NM_001352813.2:c.236A>T, NM_001352813.1:c.236A>T, NM_001352812.2:c.338A>T, NM_001352812.1:c.338A>T, NM_001352814.2:c.236A>T, NM_001352814.1:c.236A>T, NR_104234.2:n.817A>T, NR_104234.1:n.817A>T, NM_001352815.1:c.236A>T, NM_001352817.1:c.146A>T, NR_049778.1:n.571A>T, NP_689733.4:p.His196Leu, NP_001269654.1:p.His79Leu, NP_001106869.1:p.His79Leu, NP_001339738.1:p.His242Leu, NP_001339737.1:p.His196Leu, NP_001339739.1:p.His196Leu, NP_001339740.1:p.His209Leu, NP_001339745.1:p.His67Leu, NP_001106868.1:p.His105Leu, NP_001339742.1:p.His79Leu, NP_001339741.1:p.His113Leu, NP_001339743.1:p.His79Leu, NP_001339744.1:p.His79Leu, NP_001339746.1:p.His49Leu

                      11.

                      rs1465386577 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        2:179518600 (GRCh38)
                        2:180383327 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:179518599:A:G
                        Gene:
                        ZNF385B (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000002.12:g.179518600A>G, NC_000002.11:g.180383327A>G, NM_152520.6:c.480T>C, NM_152520.5:c.480T>C, NM_152520.4:c.435T>C, NM_001282725.3:c.129T>C, NM_001282725.2:c.129T>C, NM_001282725.1:c.129T>C, NM_001113398.3:c.129T>C, NM_001113398.2:c.129T>C, NM_001113398.1:c.129T>C, NM_001352809.2:c.618T>C, NM_001352809.1:c.618T>C, NM_001352808.2:c.480T>C, NM_001352808.1:c.480T>C, NM_001352810.2:c.480T>C, NM_001352810.1:c.480T>C, NM_001352811.2:c.519T>C, NM_001352811.1:c.519T>C, NR_148058.2:n.1185T>C, NR_148058.1:n.1078T>C, NR_148056.2:n.1146T>C, NR_148056.1:n.1039T>C, NM_001352816.2:c.93T>C, NM_001352816.1:c.93T>C, NR_148054.2:n.1146T>C, NR_148054.1:n.1039T>C, NM_001113397.2:c.207T>C, NM_001113397.1:c.207T>C, NR_148057.2:n.1003T>C, NR_148057.1:n.896T>C, NM_001352813.2:c.129T>C, NM_001352813.1:c.129T>C, NM_001352812.2:c.231T>C, NM_001352812.1:c.231T>C, NM_001352814.2:c.129T>C, NM_001352814.1:c.129T>C, NR_148055.2:n.372T>C, NR_148055.1:n.375T>C, NR_104234.2:n.548T>C, NR_104234.1:n.548T>C, NM_001352815.1:c.129T>C, NM_001352817.1:c.39T>C, NR_148059.1:n.837T>C, NR_049778.1:n.464T>C

                        12.

                        rs1463874181 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          2:179443333 (GRCh38)
                          2:180308060 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:179443332:G:T
                          Gene:
                          ZNF385B (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000224/1 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000223/1 (Estonian)
                          HGVS:
                          NC_000002.12:g.179443333G>T, NC_000002.11:g.180308060G>T, NG_077074.1:g.192G>T, NM_152520.6:c.1378C>A, NM_152520.5:c.1378C>A, NM_152520.4:c.1333C>A, NM_001282725.3:c.1027C>A, NM_001282725.2:c.1027C>A, NM_001282725.1:c.1027C>A, NM_001113398.3:c.1027C>A, NM_001113398.2:c.1027C>A, NM_001113398.1:c.1027C>A, NM_001352809.2:c.1516C>A, NM_001352809.1:c.1516C>A, NM_001352808.2:c.1378C>A, NM_001352808.1:c.1378C>A, NM_001352810.2:c.1459C>A, NM_001352810.1:c.1459C>A, NM_001352811.2:c.1417C>A, NM_001352811.1:c.1417C>A, NR_148058.2:n.2072C>A, NR_148058.1:n.1965C>A, NR_148056.2:n.2033C>A, NR_148056.1:n.1926C>A, NM_001352816.2:c.991C>A, NM_001352816.1:c.991C>A, NR_148054.2:n.1881C>A, NR_148054.1:n.1774C>A, NM_001113397.2:c.1105C>A, NM_001113397.1:c.1105C>A, NR_148057.2:n.1738C>A, NR_148057.1:n.1631C>A, NM_001352813.2:c.1027C>A, NM_001352813.1:c.1027C>A, NM_001352812.2:c.1129C>A, NM_001352812.1:c.1129C>A, NM_001352814.2:c.1027C>A, NM_001352814.1:c.1027C>A, NR_148055.2:n.1107C>A, NR_148055.1:n.1110C>A, NR_104234.2:n.1597C>A, NR_104234.1:n.1597C>A, NM_001352815.1:c.1027C>A, NM_001352817.1:c.937C>A, NR_148059.1:n.1572C>A, NR_049778.1:n.1362C>A, NP_689733.4:p.Pro460Thr, NP_001269654.1:p.Pro343Thr, NP_001106869.1:p.Pro343Thr, NP_001339738.1:p.Pro506Thr, NP_001339737.1:p.Pro460Thr, NP_001339739.1:p.Pro487Thr, NP_001339740.1:p.Pro473Thr, NP_001339745.1:p.Pro331Thr, NP_001106868.1:p.Pro369Thr, NP_001339742.1:p.Pro343Thr, NP_001339741.1:p.Pro377Thr, NP_001339743.1:p.Pro343Thr, NP_001339744.1:p.Pro343Thr, NP_001339746.1:p.Pro313Thr

                          13.

                          rs1463570303 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            2:179443285 (GRCh38)
                            2:180308012 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:179443284:C:T
                            Gene:
                            ZNF385B (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000028/1 (ALFA)
                            T=0.000008/2 (GnomAD_exomes)
                            T=0.000014/2 (GnomAD)
                            T=0.000026/7 (TOPMED)
                            HGVS:
                            NC_000002.12:g.179443285C>T, NC_000002.11:g.180308012C>T, NG_077074.1:g.144C>T, NM_152520.6:c.1426G>A, NM_152520.5:c.1426G>A, NM_152520.4:c.1381G>A, NM_001282725.3:c.1075G>A, NM_001282725.2:c.1075G>A, NM_001282725.1:c.1075G>A, NM_001113398.3:c.1075G>A, NM_001113398.2:c.1075G>A, NM_001113398.1:c.1075G>A, NM_001352809.2:c.1564G>A, NM_001352809.1:c.1564G>A, NM_001352808.2:c.1426G>A, NM_001352808.1:c.1426G>A, NM_001352810.2:c.1507G>A, NM_001352810.1:c.1507G>A, NM_001352811.2:c.1465G>A, NM_001352811.1:c.1465G>A, NR_148058.2:n.2120G>A, NR_148058.1:n.2013G>A, NR_148056.2:n.2081G>A, NR_148056.1:n.1974G>A, NM_001352816.2:c.1039G>A, NM_001352816.1:c.1039G>A, NR_148054.2:n.1929G>A, NR_148054.1:n.1822G>A, NM_001113397.2:c.1153G>A, NM_001113397.1:c.1153G>A, NR_148057.2:n.1786G>A, NR_148057.1:n.1679G>A, NM_001352813.2:c.1075G>A, NM_001352813.1:c.1075G>A, NM_001352812.2:c.1177G>A, NM_001352812.1:c.1177G>A, NM_001352814.2:c.1075G>A, NM_001352814.1:c.1075G>A, NR_148055.2:n.1155G>A, NR_148055.1:n.1158G>A, NR_104234.2:n.1645G>A, NR_104234.1:n.1645G>A, NM_001352815.1:c.1075G>A, NM_001352817.1:c.985G>A, NR_148059.1:n.1620G>A, NR_049778.1:n.1410G>A, NP_689733.4:p.Ala476Thr, NP_001269654.1:p.Ala359Thr, NP_001106869.1:p.Ala359Thr, NP_001339738.1:p.Ala522Thr, NP_001339737.1:p.Ala476Thr, NP_001339739.1:p.Ala503Thr, NP_001339740.1:p.Ala489Thr, NP_001339745.1:p.Ala347Thr, NP_001106868.1:p.Ala385Thr, NP_001339742.1:p.Ala359Thr, NP_001339741.1:p.Ala393Thr, NP_001339743.1:p.Ala359Thr, NP_001339744.1:p.Ala359Thr, NP_001339746.1:p.Ala329Thr

                            14.

                            rs1461617615 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              2:179443415 (GRCh38)
                              2:180308142 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:179443414:C:G
                              Gene:
                              ZNF385B (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,synonymous_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_000002.12:g.179443415C>G, NC_000002.11:g.180308142C>G, NG_077074.1:g.274C>G, NM_152520.6:c.1296G>C, NM_152520.5:c.1296G>C, NM_152520.4:c.1251G>C, NM_001282725.3:c.945G>C, NM_001282725.2:c.945G>C, NM_001282725.1:c.945G>C, NM_001113398.3:c.945G>C, NM_001113398.2:c.945G>C, NM_001113398.1:c.945G>C, NM_001352809.2:c.1434G>C, NM_001352809.1:c.1434G>C, NM_001352808.2:c.1296G>C, NM_001352808.1:c.1296G>C, NM_001352810.2:c.1377G>C, NM_001352810.1:c.1377G>C, NM_001352811.2:c.1335G>C, NM_001352811.1:c.1335G>C, NR_148058.2:n.1990G>C, NR_148058.1:n.1883G>C, NR_148056.2:n.1951G>C, NR_148056.1:n.1844G>C, NM_001352816.2:c.909G>C, NM_001352816.1:c.909G>C, NR_148054.2:n.1799G>C, NR_148054.1:n.1692G>C, NM_001113397.2:c.1023G>C, NM_001113397.1:c.1023G>C, NR_148057.2:n.1656G>C, NR_148057.1:n.1549G>C, NM_001352813.2:c.945G>C, NM_001352813.1:c.945G>C, NM_001352812.2:c.1047G>C, NM_001352812.1:c.1047G>C, NM_001352814.2:c.945G>C, NM_001352814.1:c.945G>C, NR_148055.2:n.1025G>C, NR_148055.1:n.1028G>C, NR_104234.2:n.1515G>C, NR_104234.1:n.1515G>C, NM_001352815.1:c.945G>C, NM_001352817.1:c.855G>C, NR_148059.1:n.1490G>C, NR_049778.1:n.1280G>C

                              15.

                              rs1458911340 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:179483430 (GRCh38)
                                2:180348157 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:179483429:T:C
                                Gene:
                                ZNF385B (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.179483430T>C, NC_000002.11:g.180348157T>C, NM_152520.6:c.557A>G, NM_152520.5:c.557A>G, NM_152520.4:c.512A>G, NM_001282725.3:c.206A>G, NM_001282725.2:c.206A>G, NM_001282725.1:c.206A>G, NM_001113398.3:c.206A>G, NM_001113398.2:c.206A>G, NM_001113398.1:c.206A>G, NM_001352809.2:c.695A>G, NM_001352809.1:c.695A>G, NM_001352808.2:c.557A>G, NM_001352808.1:c.557A>G, NM_001352810.2:c.557A>G, NM_001352810.1:c.557A>G, NM_001352811.2:c.596A>G, NM_001352811.1:c.596A>G, NR_148058.2:n.1262A>G, NR_148058.1:n.1155A>G, NR_148056.2:n.1223A>G, NR_148056.1:n.1116A>G, NM_001352816.2:c.170A>G, NM_001352816.1:c.170A>G, NM_001113397.2:c.284A>G, NM_001113397.1:c.284A>G, NM_001352813.2:c.206A>G, NM_001352813.1:c.206A>G, NM_001352812.2:c.308A>G, NM_001352812.1:c.308A>G, NM_001352814.2:c.206A>G, NM_001352814.1:c.206A>G, NR_104234.2:n.787A>G, NR_104234.1:n.787A>G, NM_001352815.1:c.206A>G, NM_001352817.1:c.116A>G, NR_049778.1:n.541A>G, NP_689733.4:p.Gln186Arg, NP_001269654.1:p.Gln69Arg, NP_001106869.1:p.Gln69Arg, NP_001339738.1:p.Gln232Arg, NP_001339737.1:p.Gln186Arg, NP_001339739.1:p.Gln186Arg, NP_001339740.1:p.Gln199Arg, NP_001339745.1:p.Gln57Arg, NP_001106868.1:p.Gln95Arg, NP_001339742.1:p.Gln69Arg, NP_001339741.1:p.Gln103Arg, NP_001339743.1:p.Gln69Arg, NP_001339744.1:p.Gln69Arg, NP_001339746.1:p.Gln39Arg

                                16.

                                rs1458585133 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  2:179483386 (GRCh38)
                                  2:180348113 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:179483385:T:A
                                  Gene:
                                  ZNF385B (Varview)
                                  Functional Consequence:
                                  stop_gained,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                                  Clinical significance:
                                  uncertain-significance
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.179483386T>A, NC_000002.11:g.180348113T>A, NM_152520.6:c.601A>T, NM_152520.5:c.601A>T, NM_152520.4:c.556A>T, NM_001282725.3:c.250A>T, NM_001282725.2:c.250A>T, NM_001282725.1:c.250A>T, NM_001113398.3:c.250A>T, NM_001113398.2:c.250A>T, NM_001113398.1:c.250A>T, NM_001352809.2:c.739A>T, NM_001352809.1:c.739A>T, NM_001352808.2:c.601A>T, NM_001352808.1:c.601A>T, NM_001352810.2:c.601A>T, NM_001352810.1:c.601A>T, NM_001352811.2:c.640A>T, NM_001352811.1:c.640A>T, NR_148058.2:n.1306A>T, NR_148058.1:n.1199A>T, NR_148056.2:n.1267A>T, NR_148056.1:n.1160A>T, NM_001352816.2:c.214A>T, NM_001352816.1:c.214A>T, NM_001113397.2:c.328A>T, NM_001113397.1:c.328A>T, NM_001352813.2:c.250A>T, NM_001352813.1:c.250A>T, NM_001352812.2:c.352A>T, NM_001352812.1:c.352A>T, NM_001352814.2:c.250A>T, NM_001352814.1:c.250A>T, NR_104234.2:n.831A>T, NR_104234.1:n.831A>T, NM_001352815.1:c.250A>T, NM_001352817.1:c.160A>T, NR_049778.1:n.585A>T, NP_689733.4:p.Lys201Ter, NP_001269654.1:p.Lys84Ter, NP_001106869.1:p.Lys84Ter, NP_001339738.1:p.Lys247Ter, NP_001339737.1:p.Lys201Ter, NP_001339739.1:p.Lys201Ter, NP_001339740.1:p.Lys214Ter, NP_001339745.1:p.Lys72Ter, NP_001106868.1:p.Lys110Ter, NP_001339742.1:p.Lys84Ter, NP_001339741.1:p.Lys118Ter, NP_001339743.1:p.Lys84Ter, NP_001339744.1:p.Lys84Ter, NP_001339746.1:p.Lys54Ter

                                  17.

                                  rs1458461989 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    2:179446597 (GRCh38)
                                    2:180311324 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:179446596:T:C
                                    Gene:
                                    ZNF385B (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000002.12:g.179446597T>C, NC_000002.11:g.180311324T>C, NM_152520.6:c.889A>G, NM_152520.5:c.889A>G, NM_152520.4:c.844A>G, NM_001282725.3:c.538A>G, NM_001282725.2:c.538A>G, NM_001282725.1:c.538A>G, NM_001113398.3:c.538A>G, NM_001113398.2:c.538A>G, NM_001113398.1:c.538A>G, NM_001352809.2:c.1027A>G, NM_001352809.1:c.1027A>G, NM_001352808.2:c.889A>G, NM_001352808.1:c.889A>G, NM_001352810.2:c.970A>G, NM_001352810.1:c.970A>G, NM_001352811.2:c.928A>G, NM_001352811.1:c.928A>G, NR_148058.2:n.1594A>G, NR_148058.1:n.1487A>G, NR_148056.2:n.1555A>G, NR_148056.1:n.1448A>G, NM_001352816.2:c.502A>G, NM_001352816.1:c.502A>G, NR_148054.2:n.1392A>G, NR_148054.1:n.1285A>G, NM_001113397.2:c.616A>G, NM_001113397.1:c.616A>G, NR_148057.2:n.1249A>G, NR_148057.1:n.1142A>G, NM_001352813.2:c.538A>G, NM_001352813.1:c.538A>G, NM_001352812.2:c.640A>G, NM_001352812.1:c.640A>G, NM_001352814.2:c.538A>G, NM_001352814.1:c.538A>G, NR_148055.2:n.618A>G, NR_148055.1:n.621A>G, NR_104234.2:n.1119A>G, NR_104234.1:n.1119A>G, NM_001352815.1:c.538A>G, NM_001352817.1:c.448A>G, NR_148059.1:n.1083A>G, NR_049778.1:n.873A>G, NP_689733.4:p.Lys297Glu, NP_001269654.1:p.Lys180Glu, NP_001106869.1:p.Lys180Glu, NP_001339738.1:p.Lys343Glu, NP_001339737.1:p.Lys297Glu, NP_001339739.1:p.Lys324Glu, NP_001339740.1:p.Lys310Glu, NP_001339745.1:p.Lys168Glu, NP_001106868.1:p.Lys206Glu, NP_001339742.1:p.Lys180Glu, NP_001339741.1:p.Lys214Glu, NP_001339743.1:p.Lys180Glu, NP_001339744.1:p.Lys180Glu, NP_001339746.1:p.Lys150Glu

                                    18.

                                    rs1454033265 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      2:179444935 (GRCh38)
                                      2:180309662 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:179444934:G:T
                                      Gene:
                                      ZNF385B (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000002.12:g.179444935G>T, NC_000002.11:g.180309662G>T, NM_152520.6:c.1183C>A, NM_152520.5:c.1183C>A, NM_152520.4:c.1138C>A, NM_001282725.3:c.832C>A, NM_001282725.2:c.832C>A, NM_001282725.1:c.832C>A, NM_001113398.3:c.832C>A, NM_001113398.2:c.832C>A, NM_001113398.1:c.832C>A, NM_001352809.2:c.1321C>A, NM_001352809.1:c.1321C>A, NM_001352808.2:c.1183C>A, NM_001352808.1:c.1183C>A, NM_001352810.2:c.1264C>A, NM_001352810.1:c.1264C>A, NM_001352811.2:c.1222C>A, NM_001352811.1:c.1222C>A, NR_148058.2:n.1877C>A, NR_148058.1:n.1770C>A, NR_148056.2:n.1838C>A, NR_148056.1:n.1731C>A, NM_001352816.2:c.796C>A, NM_001352816.1:c.796C>A, NR_148054.2:n.1686C>A, NR_148054.1:n.1579C>A, NM_001113397.2:c.910C>A, NM_001113397.1:c.910C>A, NR_148057.2:n.1543C>A, NR_148057.1:n.1436C>A, NM_001352813.2:c.832C>A, NM_001352813.1:c.832C>A, NM_001352812.2:c.934C>A, NM_001352812.1:c.934C>A, NM_001352814.2:c.832C>A, NM_001352814.1:c.832C>A, NR_148055.2:n.912C>A, NR_148055.1:n.915C>A, NR_104234.2:n.1402C>A, NR_104234.1:n.1402C>A, NM_001352815.1:c.832C>A, NM_001352817.1:c.742C>A, NR_148059.1:n.1377C>A, NR_049778.1:n.1167C>A, NP_689733.4:p.Pro395Thr, NP_001269654.1:p.Pro278Thr, NP_001106869.1:p.Pro278Thr, NP_001339738.1:p.Pro441Thr, NP_001339737.1:p.Pro395Thr, NP_001339739.1:p.Pro422Thr, NP_001339740.1:p.Pro408Thr, NP_001339745.1:p.Pro266Thr, NP_001106868.1:p.Pro304Thr, NP_001339742.1:p.Pro278Thr, NP_001339741.1:p.Pro312Thr, NP_001339743.1:p.Pro278Thr, NP_001339744.1:p.Pro278Thr, NP_001339746.1:p.Pro248Thr

                                      19.

                                      rs1453359452 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        2:179443265 (GRCh38)
                                        2:180307992 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:179443264:G:A
                                        Gene:
                                        ZNF385B (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000002.12:g.179443265G>A, NC_000002.11:g.180307992G>A, NG_077074.1:g.124G>A, NM_152520.6:c.1446C>T, NM_152520.5:c.1446C>T, NM_152520.4:c.1401C>T, NM_001282725.3:c.1095C>T, NM_001282725.2:c.1095C>T, NM_001282725.1:c.1095C>T, NM_001113398.3:c.1095C>T, NM_001113398.2:c.1095C>T, NM_001113398.1:c.1095C>T, NM_001352809.2:c.1584C>T, NM_001352809.1:c.1584C>T, NM_001352808.2:c.1446C>T, NM_001352808.1:c.1446C>T, NM_001352810.2:c.1527C>T, NM_001352810.1:c.1527C>T, NM_001352811.2:c.1485C>T, NM_001352811.1:c.1485C>T, NR_148058.2:n.2140C>T, NR_148058.1:n.2033C>T, NR_148056.2:n.2101C>T, NR_148056.1:n.1994C>T, NM_001352816.2:c.1059C>T, NM_001352816.1:c.1059C>T, NR_148054.2:n.1949C>T, NR_148054.1:n.1842C>T, NM_001113397.2:c.1173C>T, NM_001113397.1:c.1173C>T, NR_148057.2:n.1806C>T, NR_148057.1:n.1699C>T, NM_001352813.2:c.1095C>T, NM_001352813.1:c.1095C>T, NM_001352812.2:c.1197C>T, NM_001352812.1:c.1197C>T, NM_001352814.2:c.1095C>T, NM_001352814.1:c.1095C>T, NR_148055.2:n.1175C>T, NR_148055.1:n.1178C>T, NR_104234.2:n.1665C>T, NR_104234.1:n.1665C>T, NM_001352815.1:c.1095C>T, NM_001352817.1:c.1005C>T, NR_148059.1:n.1640C>T, NR_049778.1:n.1430C>T

                                        20.

                                        rs1448182530 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          2:179444894 (GRCh38)
                                          2:180309621 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:179444893:C:T
                                          Gene:
                                          ZNF385B (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000031/1 (ALFA)
                                          T=0.000008/2 (GnomAD_exomes)
                                          T=0.000011/3 (TOPMED)
                                          HGVS:
                                          NC_000002.12:g.179444894C>T, NC_000002.11:g.180309621C>T, NM_152520.6:c.1224G>A, NM_152520.5:c.1224G>A, NM_152520.4:c.1179G>A, NM_001282725.3:c.873G>A, NM_001282725.2:c.873G>A, NM_001282725.1:c.873G>A, NM_001113398.3:c.873G>A, NM_001113398.2:c.873G>A, NM_001113398.1:c.873G>A, NM_001352809.2:c.1362G>A, NM_001352809.1:c.1362G>A, NM_001352808.2:c.1224G>A, NM_001352808.1:c.1224G>A, NM_001352810.2:c.1305G>A, NM_001352810.1:c.1305G>A, NM_001352811.2:c.1263G>A, NM_001352811.1:c.1263G>A, NR_148058.2:n.1918G>A, NR_148058.1:n.1811G>A, NR_148056.2:n.1879G>A, NR_148056.1:n.1772G>A, NM_001352816.2:c.837G>A, NM_001352816.1:c.837G>A, NR_148054.2:n.1727G>A, NR_148054.1:n.1620G>A, NM_001113397.2:c.951G>A, NM_001113397.1:c.951G>A, NR_148057.2:n.1584G>A, NR_148057.1:n.1477G>A, NM_001352813.2:c.873G>A, NM_001352813.1:c.873G>A, NM_001352812.2:c.975G>A, NM_001352812.1:c.975G>A, NM_001352814.2:c.873G>A, NM_001352814.1:c.873G>A, NR_148055.2:n.953G>A, NR_148055.1:n.956G>A, NR_104234.2:n.1443G>A, NR_104234.1:n.1443G>A, NM_001352815.1:c.873G>A, NM_001352817.1:c.783G>A, NR_148059.1:n.1418G>A, NR_049778.1:n.1208G>A

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