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Items: 1 to 20 of 5196

1.

rs1491544239 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    5:180858257 (GRCh38)
    5:180285257 (GRCh37)
    Canonical SPDI:
    NC_000005.10:180858256:CA:
    Gene:
    ZFP62 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00093/11 (ALFA)
    HGVS:

    2.

    rs1491339187 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      5:180858291 (GRCh38)
      5:180285292 (GRCh37)
      Canonical SPDI:
      NC_000005.10:180858291:G:GG
      Gene:
      ZFP62 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      GG=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      HGVS:

      3.

      rs1491332830 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        GA>-
        Chromosome:
        no mapping
        Canonical SPDI:

        4.

        rs1491297873 has merged into rs1159409435 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          5:180858267 (GRCh38)
          5:180285267 (GRCh37)
          Canonical SPDI:
          NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858257:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          ZFP62 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAA=0./0 (ALFA)
          HGVS:
          NC_000005.10:g.180858267_180858278del, NC_000005.10:g.180858269_180858278del, NC_000005.10:g.180858270_180858278del, NC_000005.10:g.180858272_180858278del, NC_000005.10:g.180858273_180858278del, NC_000005.10:g.180858274_180858278del, NC_000005.10:g.180858275_180858278del, NC_000005.10:g.180858276_180858278del, NC_000005.10:g.180858277_180858278del, NC_000005.10:g.180858278del, NC_000005.10:g.180858278dup, NC_000005.10:g.180858277_180858278dup, NC_000005.10:g.180858276_180858278dup, NC_000005.10:g.180858275_180858278dup, NC_000005.10:g.180858274_180858278dup, NC_000005.10:g.180858273_180858278dup, NC_000005.10:g.180858272_180858278dup, NC_000005.10:g.180858271_180858278dup, NC_000005.10:g.180858270_180858278dup, NC_000005.10:g.180858269_180858278dup, NC_000005.10:g.180858268_180858278dup, NC_000005.10:g.180858267_180858278dup, NC_000005.10:g.180858266_180858278dup, NC_000005.10:g.180858265_180858278dup, NC_000005.10:g.180858263_180858278dup, NC_000005.10:g.180858262_180858278dup, NC_000005.10:g.180858259_180858278dup, NC_000005.10:g.180858278_180858279insAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.180858278_180858279insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.180285267_180285278del, NC_000005.9:g.180285269_180285278del, NC_000005.9:g.180285270_180285278del, NC_000005.9:g.180285272_180285278del, NC_000005.9:g.180285273_180285278del, NC_000005.9:g.180285274_180285278del, NC_000005.9:g.180285275_180285278del, NC_000005.9:g.180285276_180285278del, NC_000005.9:g.180285277_180285278del, NC_000005.9:g.180285278del, NC_000005.9:g.180285278dup, NC_000005.9:g.180285277_180285278dup, NC_000005.9:g.180285276_180285278dup, NC_000005.9:g.180285275_180285278dup, NC_000005.9:g.180285274_180285278dup, NC_000005.9:g.180285273_180285278dup, NC_000005.9:g.180285272_180285278dup, NC_000005.9:g.180285271_180285278dup, NC_000005.9:g.180285270_180285278dup, NC_000005.9:g.180285269_180285278dup, NC_000005.9:g.180285268_180285278dup, NC_000005.9:g.180285267_180285278dup, NC_000005.9:g.180285266_180285278dup, NC_000005.9:g.180285265_180285278dup, NC_000005.9:g.180285263_180285278dup, NC_000005.9:g.180285262_180285278dup, NC_000005.9:g.180285259_180285278dup, NC_000005.9:g.180285278_180285279insAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.180285278_180285279insAAAAAAAAAAAAAAAAAAAAAAAA

          5.

          rs1491214443 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TA>- [Show Flanks]
            Chromosome:
            5:180861913 (GRCh38)
            5:180288913 (GRCh37)
            Canonical SPDI:
            NC_000005.10:180861912:TA:
            Gene:
            ZFP62 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            -=0.000007/1 (GnomAD)
            HGVS:

            6.

            rs1491078040 has merged into rs35177299 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAA>-,A,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA [Show Flanks]
              Chromosome:
              5:180858103 (GRCh38)
              5:180285103 (GRCh37)
              Canonical SPDI:
              NC_000005.10:180858090:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:180858090:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:180858090:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:180858090:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:180858090:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:180858090:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:180858090:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858090:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180858090:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              ZFP62 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAAAA=0./0 (ALFA)
              HGVS:

              7.

              rs1491005770 has merged into rs1160922 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TC>-,TCTC [Show Flanks]
                Chromosome:
                5:180846619 (GRCh38)
                5:180273619 (GRCh37)
                Canonical SPDI:
                NC_000005.10:180846615:CTCTC:CTC,NC_000005.10:180846615:CTCTC:CTCTCTC
                Gene:
                ZFP62 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CTCTC=0.080232/539 (ALFA)
                -=0./0 (Korea1K)
                -=0.000708/12 (TOMMO)
                -=0.060304/302 (1000Genomes)
                -=0.066667/40 (NorthernSweden)
                -=0.066964/300 (Estonian)
                -=0.078518/20783 (TOPMED)
                HGVS:

                8.

                rs1490864491 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  5:180856405 (GRCh38)
                  5:180283405 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:180856404:T:C
                  Gene:
                  ZFP62 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000021/3 (GnomAD)
                  C=0.000156/1 (1000Genomes)
                  HGVS:

                  9.

                  rs1490474119 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    5:180850145 (GRCh38)
                    5:180277145 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:180850144:T:C
                    Gene:
                    ZFP62 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000006/1 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1490469038 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      5:180850223 (GRCh38)
                      5:180277223 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:180850222:C:G
                      Gene:
                      ZFP62 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000028/1 (ALFA)
                      G=0.000006/1 (GnomAD_exomes)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000005.10:g.180850223C>G, NC_000005.9:g.180277223C>G, NM_152283.5:c.1173G>C, NM_152283.4:c.1173G>C, XM_017009718.3:c.1323G>C, XM_017009718.2:c.1323G>C, XM_017009718.1:c.1323G>C, XM_017009716.3:c.1323G>C, XM_017009716.2:c.1323G>C, XM_017009716.1:c.1323G>C, XM_017009719.3:c.1323G>C, XM_017009719.2:c.1323G>C, XM_017009719.1:c.1323G>C, NM_001172638.2:c.1272G>C, NM_001172638.1:c.1272G>C, XM_047417499.1:c.1323G>C, XM_047417502.1:c.1272G>C, NM_001377941.1:c.1173G>C, NM_001377939.1:c.1173G>C, NM_001377942.1:c.1173G>C, NM_001377940.1:c.1173G>C, NM_001377943.1:c.1272G>C, XM_047417501.1:c.1272G>C, XM_047417500.1:c.1173G>C, XM_047417503.1:c.1272G>C, NM_001377945.1:c.1173G>C, NM_001377944.1:c.1272G>C, NP_689496.4:p.Lys391Asn, XP_016865207.1:p.Lys441Asn, XP_016865205.1:p.Lys441Asn, XP_016865208.1:p.Lys441Asn, NP_001166109.1:p.Lys424Asn, XP_047273455.1:p.Lys441Asn, XP_047273458.1:p.Lys424Asn, NP_001364870.1:p.Lys391Asn, NP_001364868.1:p.Lys391Asn, NP_001364871.1:p.Lys391Asn, NP_001364869.1:p.Lys391Asn, NP_001364872.1:p.Lys424Asn, XP_047273457.1:p.Lys424Asn, XP_047273456.1:p.Lys391Asn, XP_047273459.1:p.Lys424Asn, NP_001364874.1:p.Lys391Asn, NP_001364873.1:p.Lys424Asn

                      11.

                      rs1490444689 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,C [Show Flanks]
                        Chromosome:
                        5:180849274 (GRCh38)
                        5:180276274 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:180849273:T:A,NC_000005.10:180849273:T:C
                        Gene:
                        ZFP62 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000006/1 (GnomAD_exomes)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000005.10:g.180849274T>A, NC_000005.10:g.180849274T>C, NC_000005.9:g.180276274T>A, NC_000005.9:g.180276274T>C, NM_152283.5:c.2122A>T, NM_152283.5:c.2122A>G, NM_152283.4:c.2122A>T, NM_152283.4:c.2122A>G, XM_017009718.3:c.2272A>T, XM_017009718.3:c.2272A>G, XM_017009718.2:c.2272A>T, XM_017009718.2:c.2272A>G, XM_017009718.1:c.2272A>T, XM_017009718.1:c.2272A>G, XM_017009716.3:c.2272A>T, XM_017009716.3:c.2272A>G, XM_017009716.2:c.2272A>T, XM_017009716.2:c.2272A>G, XM_017009716.1:c.2272A>T, XM_017009716.1:c.2272A>G, XM_017009719.3:c.2272A>T, XM_017009719.3:c.2272A>G, XM_017009719.2:c.2272A>T, XM_017009719.2:c.2272A>G, XM_017009719.1:c.2272A>T, XM_017009719.1:c.2272A>G, NM_001172638.2:c.2221A>T, NM_001172638.2:c.2221A>G, NM_001172638.1:c.2221A>T, NM_001172638.1:c.2221A>G, XM_047417499.1:c.2272A>T, XM_047417499.1:c.2272A>G, XM_047417502.1:c.2221A>T, XM_047417502.1:c.2221A>G, NM_001377941.1:c.2122A>T, NM_001377941.1:c.2122A>G, NM_001377939.1:c.2122A>T, NM_001377939.1:c.2122A>G, NM_001377942.1:c.2122A>T, NM_001377942.1:c.2122A>G, NM_001377940.1:c.2122A>T, NM_001377940.1:c.2122A>G, NM_001377943.1:c.2221A>T, NM_001377943.1:c.2221A>G, XM_047417501.1:c.2221A>T, XM_047417501.1:c.2221A>G, XM_047417500.1:c.2122A>T, XM_047417500.1:c.2122A>G, XM_047417503.1:c.2221A>T, XM_047417503.1:c.2221A>G, NM_001377945.1:c.2122A>T, NM_001377945.1:c.2122A>G, NM_001377944.1:c.2221A>T, NM_001377944.1:c.2221A>G, NP_689496.4:p.Ser708Cys, NP_689496.4:p.Ser708Gly, XP_016865207.1:p.Ser758Cys, XP_016865207.1:p.Ser758Gly, XP_016865205.1:p.Ser758Cys, XP_016865205.1:p.Ser758Gly, XP_016865208.1:p.Ser758Cys, XP_016865208.1:p.Ser758Gly, NP_001166109.1:p.Ser741Cys, NP_001166109.1:p.Ser741Gly, XP_047273455.1:p.Ser758Cys, XP_047273455.1:p.Ser758Gly, XP_047273458.1:p.Ser741Cys, XP_047273458.1:p.Ser741Gly, NP_001364870.1:p.Ser708Cys, NP_001364870.1:p.Ser708Gly, NP_001364868.1:p.Ser708Cys, NP_001364868.1:p.Ser708Gly, NP_001364871.1:p.Ser708Cys, NP_001364871.1:p.Ser708Gly, NP_001364869.1:p.Ser708Cys, NP_001364869.1:p.Ser708Gly, NP_001364872.1:p.Ser741Cys, NP_001364872.1:p.Ser741Gly, XP_047273457.1:p.Ser741Cys, XP_047273457.1:p.Ser741Gly, XP_047273456.1:p.Ser708Cys, XP_047273456.1:p.Ser708Gly, XP_047273459.1:p.Ser741Cys, XP_047273459.1:p.Ser741Gly, NP_001364874.1:p.Ser708Cys, NP_001364874.1:p.Ser708Gly, NP_001364873.1:p.Ser741Cys, NP_001364873.1:p.Ser741Gly

                        12.

                        rs1490420495 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          5:180856809 (GRCh38)
                          5:180283809 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:180856808:C:T
                          Gene:
                          ZFP62 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1490234133 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            5:180855423 (GRCh38)
                            5:180282423 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:180855422:A:G
                            Gene:
                            ZFP62 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1489904252 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              5:180849741 (GRCh38)
                              5:180276741 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:180849740:C:G
                              Gene:
                              ZFP62 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000005.10:g.180849741C>G, NC_000005.9:g.180276741C>G, NM_152283.5:c.1655G>C, NM_152283.4:c.1655G>C, XM_017009718.3:c.1805G>C, XM_017009718.2:c.1805G>C, XM_017009718.1:c.1805G>C, XM_017009716.3:c.1805G>C, XM_017009716.2:c.1805G>C, XM_017009716.1:c.1805G>C, XM_017009719.3:c.1805G>C, XM_017009719.2:c.1805G>C, XM_017009719.1:c.1805G>C, NM_001172638.2:c.1754G>C, NM_001172638.1:c.1754G>C, XM_047417499.1:c.1805G>C, XM_047417502.1:c.1754G>C, NM_001377941.1:c.1655G>C, NM_001377939.1:c.1655G>C, NM_001377942.1:c.1655G>C, NM_001377940.1:c.1655G>C, NM_001377943.1:c.1754G>C, XM_047417501.1:c.1754G>C, XM_047417500.1:c.1655G>C, XM_047417503.1:c.1754G>C, NM_001377945.1:c.1655G>C, NM_001377944.1:c.1754G>C, NP_689496.4:p.Gly552Ala, XP_016865207.1:p.Gly602Ala, XP_016865205.1:p.Gly602Ala, XP_016865208.1:p.Gly602Ala, NP_001166109.1:p.Gly585Ala, XP_047273455.1:p.Gly602Ala, XP_047273458.1:p.Gly585Ala, NP_001364870.1:p.Gly552Ala, NP_001364868.1:p.Gly552Ala, NP_001364871.1:p.Gly552Ala, NP_001364869.1:p.Gly552Ala, NP_001364872.1:p.Gly585Ala, XP_047273457.1:p.Gly585Ala, XP_047273456.1:p.Gly552Ala, XP_047273459.1:p.Gly585Ala, NP_001364874.1:p.Gly552Ala, NP_001364873.1:p.Gly585Ala

                              15.

                              rs1489880432 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                5:180858012 (GRCh38)
                                5:180285012 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:180858011:G:A
                                Gene:
                                ZFP62 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000029/4 (GnomAD)
                                A=0.000034/9 (TOPMED)
                                HGVS:

                                16.

                                rs1489838810 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  5:180861382 (GRCh38)
                                  5:180288382 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:180861381:G:A
                                  Gene:
                                  ZFP62 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1489742252 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    5:180847546 (GRCh38)
                                    5:180274546 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:180847545:C:A
                                    Gene:
                                    ZFP62 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1489691489 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      5:180848493 (GRCh38)
                                      5:180275493 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:180848492:C:T
                                      Gene:
                                      ZFP62 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1489507434 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        5:180844656 (GRCh38)
                                        5:180271656 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:180844655:G:A
                                        Gene:
                                        ZFP62 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1489479282 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          5:180858917 (GRCh38)
                                          5:180285917 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:180858916:T:C
                                          Gene:
                                          ZFP62 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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