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Items: 1 to 20 of 6972

1.

rs1491532590 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    19:12324720 (GRCh38)
    19:12435534 (GRCh37)
    Canonical SPDI:
    NC_000019.10:12324718:AGA:A
    Gene:
    ZNF563 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:
    2.

    rs1491486425 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      19:12317490 (GRCh38)
      19:12428305 (GRCh37)
      Canonical SPDI:
      NC_000019.10:12317490::G
      Gene:
      ZNF563 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1491416030 has merged into rs567439951 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        19:12332357 (GRCh38)
        19:12443171 (GRCh37)
        Canonical SPDI:
        NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        ZNF563 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTT=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.1248/625 (1000Genomes)
        T=0.25/10 (GENOME_DK)
        HGVS:
        NC_000019.10:g.12332357_12332364del, NC_000019.10:g.12332358_12332364del, NC_000019.10:g.12332359_12332364del, NC_000019.10:g.12332360_12332364del, NC_000019.10:g.12332361_12332364del, NC_000019.10:g.12332362_12332364del, NC_000019.10:g.12332363_12332364del, NC_000019.10:g.12332364del, NC_000019.10:g.12332364dup, NC_000019.10:g.12332363_12332364dup, NC_000019.10:g.12332362_12332364dup, NC_000019.10:g.12332361_12332364dup, NC_000019.10:g.12332359_12332364dup, NC_000019.10:g.12332358_12332364dup, NC_000019.10:g.12332357_12332364dup, NC_000019.10:g.12332356_12332364dup, NC_000019.10:g.12332354_12332364dup, NC_000019.10:g.12332364_12332365insTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.12443171_12443178del, NC_000019.9:g.12443172_12443178del, NC_000019.9:g.12443173_12443178del, NC_000019.9:g.12443174_12443178del, NC_000019.9:g.12443175_12443178del, NC_000019.9:g.12443176_12443178del, NC_000019.9:g.12443177_12443178del, NC_000019.9:g.12443178del, NC_000019.9:g.12443178dup, NC_000019.9:g.12443177_12443178dup, NC_000019.9:g.12443176_12443178dup, NC_000019.9:g.12443175_12443178dup, NC_000019.9:g.12443173_12443178dup, NC_000019.9:g.12443172_12443178dup, NC_000019.9:g.12443171_12443178dup, NC_000019.9:g.12443170_12443178dup, NC_000019.9:g.12443168_12443178dup, NC_000019.9:g.12443178_12443179insTTTTTTTTTTTTTTTTTTTT
        4.

        rs1491402364 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TA>- [Show Flanks]
          Chromosome:
          19:12324366 (GRCh38)
          19:12435180 (GRCh37)
          Canonical SPDI:
          NC_000019.10:12324364:ATA:A
          Gene:
          ZNF563 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000071/1 (ALFA)
          -=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1491388621 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            19:12334868 (GRCh38)
            19:12445682 (GRCh37)
            Canonical SPDI:
            NC_000019.10:12334867:CA:
            Gene:
            ZNF563 (Varview)
            Functional Consequence:
            upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            HGVS:
            6.

            rs1491378955 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CT>- [Show Flanks]
              Chromosome:
              19:12318009 (GRCh38)
              19:12428823 (GRCh37)
              Canonical SPDI:
              NC_000019.10:12318008:CT:
              Gene:
              ZNF563 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1491349587 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->CTTT [Show Flanks]
                Chromosome:
                19:12329926 (GRCh38)
                19:12440741 (GRCh37)
                Canonical SPDI:
                NC_000019.10:12329926:TTT:TTTCTTT
                Gene:
                ZNF563 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                TTTCTTT=0./0 (ALFA)
                TTTC=0.00002/2 (GnomAD)
                HGVS:
                8.

                rs1491280138 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->T [Show Flanks]
                  Chromosome:
                  19:12346866 (GRCh38)
                  19:12457681 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:12346866:T:TT
                  Gene:
                  ZNF442 (Varview), ZNF563 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TT=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1491264472 has merged into rs55994665 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    19:12339283 (GRCh38)
                    19:12450097 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    ZNF563 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTTT=0./0 (ALFA)
                    HGVS:
                    NC_000019.10:g.12339283_12339297del, NC_000019.10:g.12339285_12339297del, NC_000019.10:g.12339287_12339297del, NC_000019.10:g.12339288_12339297del, NC_000019.10:g.12339290_12339297del, NC_000019.10:g.12339291_12339297del, NC_000019.10:g.12339292_12339297del, NC_000019.10:g.12339294_12339297del, NC_000019.10:g.12339295_12339297del, NC_000019.10:g.12339296_12339297del, NC_000019.10:g.12339297del, NC_000019.10:g.12339297dup, NC_000019.10:g.12339296_12339297dup, NC_000019.10:g.12339295_12339297dup, NC_000019.10:g.12339294_12339297dup, NC_000019.10:g.12339293_12339297dup, NC_000019.10:g.12339292_12339297dup, NC_000019.10:g.12339291_12339297dup, NC_000019.10:g.12339290_12339297dup, NC_000019.10:g.12339289_12339297dup, NC_000019.10:g.12339288_12339297dup, NC_000019.10:g.12339287_12339297dup, NC_000019.10:g.12339285_12339297dup, NC_000019.10:g.12339284_12339297dup, NC_000019.10:g.12339280_12339297dup, NC_000019.10:g.12339297_12339298insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.12450097_12450111del, NC_000019.9:g.12450099_12450111del, NC_000019.9:g.12450101_12450111del, NC_000019.9:g.12450102_12450111del, NC_000019.9:g.12450104_12450111del, NC_000019.9:g.12450105_12450111del, NC_000019.9:g.12450106_12450111del, NC_000019.9:g.12450108_12450111del, NC_000019.9:g.12450109_12450111del, NC_000019.9:g.12450110_12450111del, NC_000019.9:g.12450111del, NC_000019.9:g.12450111dup, NC_000019.9:g.12450110_12450111dup, NC_000019.9:g.12450109_12450111dup, NC_000019.9:g.12450108_12450111dup, NC_000019.9:g.12450107_12450111dup, NC_000019.9:g.12450106_12450111dup, NC_000019.9:g.12450105_12450111dup, NC_000019.9:g.12450104_12450111dup, NC_000019.9:g.12450103_12450111dup, NC_000019.9:g.12450102_12450111dup, NC_000019.9:g.12450101_12450111dup, NC_000019.9:g.12450099_12450111dup, NC_000019.9:g.12450098_12450111dup, NC_000019.9:g.12450094_12450111dup, NC_000019.9:g.12450111_12450112insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                    10.

                    rs1491198488 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CA>- [Show Flanks]
                      Chromosome:
                      19:12344362 (GRCh38)
                      19:12455176 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:12344361:CA:
                      Gene:
                      ZNF563 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0.00017/2 (ALFA)
                      HGVS:
                      11.

                      rs1491184192 [Homo sapiens]
                        Variant type:
                        SNV:
                        Alleles:
                        ->TTTCTTTTTTTTTTTTTTTTTTTTTTT
                        Chromosome:
                        no mapping
                        Canonical SPDI:
                        12.

                        rs1491166323 [Homo sapiens]
                          Variant type:
                          SNV:
                          Alleles:
                          ->C
                          Chromosome:
                          no mapping
                          Canonical SPDI:
                          13.

                          rs1491165326 has merged into rs113676690 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TTT>-,T,TT,TTTT,TTTTT,TTTTTTTT [Show Flanks]
                            Chromosome:
                            19:12329935 (GRCh38)
                            19:12440749 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:12329925:TTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:12329925:TTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:12329925:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:12329925:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:12329925:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:12329925:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
                            Gene:
                            ZNF563 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTTTTTTT=0./0 (ALFA)
                            -=0.075/3 (GENOME_DK)
                            -=0.159655/592 (TWINSUK)
                            -=0.16/96 (NorthernSweden)
                            -=0.170472/657 (ALSPAC)
                            -=0.186887/49467 (TOPMED)
                            -=0.206669/1035 (1000Genomes)
                            HGVS:
                            14.

                            rs1491106645 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AT>- [Show Flanks]
                              Chromosome:
                              19:12346868 (GRCh38)
                              19:12457682 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:12346865:ATAT:AT
                              Gene:
                              ZNF442 (Varview), ZNF563 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              ATAT=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490966488 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                19:12338355 (GRCh38)
                                19:12449169 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:12338354:C:A,NC_000019.10:12338354:C:T
                                Gene:
                                ZNF563 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490792625 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  19:12317245 (GRCh38)
                                  19:12428059 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:12317244:C:T
                                  Gene:
                                  ZNF563 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490543256 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    19:12338728 (GRCh38)
                                    19:12449542 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:12338727:T:C
                                    Gene:
                                    ZNF563 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000011/3 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490491505 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      19:12347070 (GRCh38)
                                      19:12457884 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:12347069:C:A
                                      Gene:
                                      ZNF442 (Varview), ZNF563 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490453103 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        19:12330867 (GRCh38)
                                        19:12441681 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:12330866:A:G
                                        Gene:
                                        ZNF563 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490407572 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          19:12329732 (GRCh38)
                                          19:12440546 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:12329731:T:C
                                          Gene:
                                          ZNF563 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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