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Items: 1 to 20 of 16281

1.

rs1491555237 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TG>- [Show Flanks]
    Chromosome:
    19:9351267 (GRCh38)
    19:9461943 (GRCh37)
    Canonical SPDI:
    NC_000019.10:9351266:TG:
    Gene:
    ZNF559-ZNF177 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.00017/2 (ALFA)
    -=0.00015/2 (TOMMO)
    HGVS:
    2.

    rs1491553020 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TC>- [Show Flanks]
      Chromosome:
      19:9377005 (GRCh38)
      19:9487681 (GRCh37)
      Canonical SPDI:
      NC_000019.10:9377000:TCTCTC:TCTC
      Gene:
      ZNF177 (Varview), ZNF559-ZNF177 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TCTC=0./0 (ALFA)
      -=0.000008/2 (TOPMED)
      -=0.000021/3 (GnomAD)
      -=0.000035/1 (TOMMO)
      -=0.000546/1 (Korea1K)
      HGVS:
      3.

      rs1491504199 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->G [Show Flanks]
        Chromosome:
        19:9326131 (GRCh38)
        19:9436808 (GRCh37)
        Canonical SPDI:
        NC_000019.10:9326131:G:GG
        Gene:
        ZNF559 (Varview), ZNF559-ZNF177 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        GG=0./0 (ALFA)
        HGVS:
        4.

        rs1491460603 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CT>- [Show Flanks]
          Chromosome:
          19:9366287 (GRCh38)
          19:9476963 (GRCh37)
          Canonical SPDI:
          NC_000019.10:9366286:CT:
          Gene:
          ZNF177 (Varview), ZNF559-ZNF177 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1491436953 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CT>- [Show Flanks]
            Chromosome:
            19:9372540 (GRCh38)
            19:9483216 (GRCh37)
            Canonical SPDI:
            NC_000019.10:9372539:CT:
            Gene:
            ZNF177 (Varview), ZNF559-ZNF177 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            -=0.000008/1 (GnomAD)
            HGVS:
            6.

            rs1491433418 has merged into rs904074002 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTGTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              19:9328358 (GRCh38)
              19:9439034 (GRCh37)
              Canonical SPDI:
              NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              ZNF559 (Varview), ZNF559-ZNF177 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTT=0./0 (ALFA)
              HGVS:
              NC_000019.10:g.9328358_9328372del, NC_000019.10:g.9328359_9328372del, NC_000019.10:g.9328360_9328372del, NC_000019.10:g.9328361_9328372del, NC_000019.10:g.9328362_9328372del, NC_000019.10:g.9328364_9328372del, NC_000019.10:g.9328365_9328372del, NC_000019.10:g.9328366_9328372del, NC_000019.10:g.9328367_9328372del, NC_000019.10:g.9328368_9328372del, NC_000019.10:g.9328369_9328372del, NC_000019.10:g.9328370_9328372del, NC_000019.10:g.9328371_9328372del, NC_000019.10:g.9328372del, NC_000019.10:g.9328372dup, NC_000019.10:g.9328371_9328372dup, NC_000019.10:g.9328370_9328372dup, NC_000019.10:g.9328369_9328372dup, NC_000019.10:g.9328349_9328372T[28]GT[2]TGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.9328368_9328372dup, NC_000019.10:g.9328367_9328372dup, NC_000019.10:g.9328366_9328372dup, NC_000019.10:g.9328365_9328372dup, NC_000019.10:g.9328364_9328372dup, NC_000019.10:g.9328363_9328372dup, NC_000019.10:g.9328362_9328372dup, NC_000019.10:g.9328361_9328372dup, NC_000019.10:g.9328360_9328372dup, NC_000019.10:g.9328372_9328373insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9439034_9439048del, NC_000019.9:g.9439035_9439048del, NC_000019.9:g.9439036_9439048del, NC_000019.9:g.9439037_9439048del, NC_000019.9:g.9439038_9439048del, NC_000019.9:g.9439040_9439048del, NC_000019.9:g.9439041_9439048del, NC_000019.9:g.9439042_9439048del, NC_000019.9:g.9439043_9439048del, NC_000019.9:g.9439044_9439048del, NC_000019.9:g.9439045_9439048del, NC_000019.9:g.9439046_9439048del, NC_000019.9:g.9439047_9439048del, NC_000019.9:g.9439048del, NC_000019.9:g.9439048dup, NC_000019.9:g.9439047_9439048dup, NC_000019.9:g.9439046_9439048dup, NC_000019.9:g.9439045_9439048dup, NC_000019.9:g.9439025_9439048T[28]GT[2]TGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.9439044_9439048dup, NC_000019.9:g.9439043_9439048dup, NC_000019.9:g.9439042_9439048dup, NC_000019.9:g.9439041_9439048dup, NC_000019.9:g.9439040_9439048dup, NC_000019.9:g.9439039_9439048dup, NC_000019.9:g.9439038_9439048dup, NC_000019.9:g.9439037_9439048dup, NC_000019.9:g.9439036_9439048dup, NC_000019.9:g.9439048_9439049insTTTTTTTTTTTTTTTTTTTTTTTTTT
              7.

              rs1491377555 has merged into rs552808679 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                19:9356943 (GRCh38)
                19:9467619 (GRCh37)
                Canonical SPDI:
                NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                ZNF559-ZNF177 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTTT=0./0 (ALFA)
                -=0.03674/184 (1000Genomes)
                TT=0.375/15 (GENOME_DK)
                HGVS:
                NC_000019.10:g.9356943_9356953del, NC_000019.10:g.9356944_9356953del, NC_000019.10:g.9356945_9356953del, NC_000019.10:g.9356946_9356953del, NC_000019.10:g.9356947_9356953del, NC_000019.10:g.9356948_9356953del, NC_000019.10:g.9356949_9356953del, NC_000019.10:g.9356950_9356953del, NC_000019.10:g.9356951_9356953del, NC_000019.10:g.9356952_9356953del, NC_000019.10:g.9356953del, NC_000019.10:g.9356953dup, NC_000019.10:g.9356952_9356953dup, NC_000019.10:g.9356951_9356953dup, NC_000019.10:g.9356950_9356953dup, NC_000019.10:g.9356949_9356953dup, NC_000019.10:g.9356948_9356953dup, NC_000019.10:g.9356947_9356953dup, NC_000019.10:g.9356946_9356953dup, NC_000019.10:g.9356945_9356953dup, NC_000019.10:g.9356944_9356953dup, NC_000019.10:g.9356931_9356953dup, NC_000019.10:g.9356953_9356954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.9356953_9356954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.9356953_9356954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.9356953_9356954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.9356953_9356954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.9356953_9356954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9467619_9467629del, NC_000019.9:g.9467620_9467629del, NC_000019.9:g.9467621_9467629del, NC_000019.9:g.9467622_9467629del, NC_000019.9:g.9467623_9467629del, NC_000019.9:g.9467624_9467629del, NC_000019.9:g.9467625_9467629del, NC_000019.9:g.9467626_9467629del, NC_000019.9:g.9467627_9467629del, NC_000019.9:g.9467628_9467629del, NC_000019.9:g.9467629del, NC_000019.9:g.9467629dup, NC_000019.9:g.9467628_9467629dup, NC_000019.9:g.9467627_9467629dup, NC_000019.9:g.9467626_9467629dup, NC_000019.9:g.9467625_9467629dup, NC_000019.9:g.9467624_9467629dup, NC_000019.9:g.9467623_9467629dup, NC_000019.9:g.9467622_9467629dup, NC_000019.9:g.9467621_9467629dup, NC_000019.9:g.9467620_9467629dup, NC_000019.9:g.9467607_9467629dup, NC_000019.9:g.9467629_9467630insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9467629_9467630insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9467629_9467630insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9467629_9467630insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9467629_9467630insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9467629_9467630insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                8.

                rs1491363038 [Homo sapiens]
                  Variant type:
                  SNV:
                  Alleles:
                  ->ATTTTTTTATTTTT
                  Chromosome:
                  no mapping
                  Canonical SPDI:
                  9.

                  rs1491349283 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    TG>- [Show Flanks]
                    Chromosome:
                    19:9326131 (GRCh38)
                    19:9436807 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:9326130:TG:
                    Gene:
                    ZNF559 (Varview), ZNF559-ZNF177 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.00059/7 (ALFA)
                    HGVS:
                    10.

                    rs1491276693 has merged into rs35775585 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      19:9325797 (GRCh38)
                      19:9436473 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      ZNF559 (Varview), ZNF559-ZNF177 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAA=0./0 (ALFA)
                      AA=0.2774/1389 (1000Genomes)
                      HGVS:
                      11.

                      rs1491275407 has merged into rs59300029 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        19:9335148 (GRCh38)
                        19:9445824 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        ZNF559 (Varview), ZNF559-ZNF177 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAAAAAA=0./0 (ALFA)
                        AAAAAAAAAA=0.000015/4 (TOPMED)
                        -=0.418367/246 (NorthernSweden)
                        AA=0.419529/2101 (1000Genomes)
                        HGVS:
                        NC_000019.10:g.9335148_9335153del, NC_000019.10:g.9335149_9335153del, NC_000019.10:g.9335150_9335153del, NC_000019.10:g.9335151_9335153del, NC_000019.10:g.9335152_9335153del, NC_000019.10:g.9335153del, NC_000019.10:g.9335153dup, NC_000019.10:g.9335152_9335153dup, NC_000019.10:g.9335148_9335153dup, NC_000019.10:g.9335147_9335153dup, NC_000019.10:g.9335146_9335153dup, NC_000019.10:g.9335145_9335153dup, NC_000019.10:g.9335144_9335153dup, NC_000019.9:g.9445824_9445829del, NC_000019.9:g.9445825_9445829del, NC_000019.9:g.9445826_9445829del, NC_000019.9:g.9445827_9445829del, NC_000019.9:g.9445828_9445829del, NC_000019.9:g.9445829del, NC_000019.9:g.9445829dup, NC_000019.9:g.9445828_9445829dup, NC_000019.9:g.9445824_9445829dup, NC_000019.9:g.9445823_9445829dup, NC_000019.9:g.9445822_9445829dup, NC_000019.9:g.9445821_9445829dup, NC_000019.9:g.9445820_9445829dup
                        12.

                        rs1491272269 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->G [Show Flanks]
                          Chromosome:
                          19:9340591 (GRCh38)
                          19:9451268 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:9340591:G:GG
                          Gene:
                          ZNF559 (Varview), ZNF559-ZNF177 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          GG=0./0 (ALFA)
                          G=0.00028/9 (GnomAD)
                          HGVS:
                          13.

                          rs1491241437 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            ->CTTT
                            Chromosome:
                            no mapping
                            Canonical SPDI:
                            14.

                            rs1491235509 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->GCC [Show Flanks]
                              Chromosome:
                              19:9324619 (GRCh38)
                              19:9435296 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:9324619:CC:CCGCC
                              Gene:
                              ZNF559 (Varview), ZNF559-ZNF177 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              CCGCC=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1491234445 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AC>- [Show Flanks]
                                Chromosome:
                                19:9342493 (GRCh38)
                                19:9453169 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:9342489:CACAC:CAC
                                Gene:
                                ZNF559 (Varview), ZNF559-ZNF177 (Varview)
                                Functional Consequence:
                                intron_variant,frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CAC=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1491223567 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->TTTAAG,TTTG,TTTTA,TTTTTTAAG [Show Flanks]
                                  Chromosome:
                                  19:9351267 (GRCh38)
                                  19:9461944 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:9351267::TTTAAG,NC_000019.10:9351267::TTTG,NC_000019.10:9351267::TTTTA,NC_000019.10:9351267::TTTTTTAAG
                                  Gene:
                                  ZNF559-ZNF177 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTG=0./0 (ALFA)
                                  TTTG=0.000023/3 (GnomAD)
                                  TTTTA=0.000299/5 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1491223256 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->TCC [Show Flanks]
                                    Chromosome:
                                    19:9340553 (GRCh38)
                                    19:9451230 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:9340553::TCC
                                    Gene:
                                    ZNF559 (Varview), ZNF559-ZNF177 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    TCC=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1491222188 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->C [Show Flanks]
                                      Chromosome:
                                      19:9377001 (GRCh38)
                                      19:9487678 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:9377001:C:CC
                                      Gene:
                                      ZNF177 (Varview), ZNF559-ZNF177 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      CC=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1491221151 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        CA>- [Show Flanks]
                                        Chromosome:
                                        19:9325786 (GRCh38)
                                        19:9436462 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:9325785:CA:
                                        Gene:
                                        ZNF559 (Varview), ZNF559-ZNF177 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0.00126/15 (ALFA)
                                        -=0.00216/39 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1491196978 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->A [Show Flanks]
                                          Chromosome:
                                          19:9342574 (GRCh38)
                                          19:9453251 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:9342574:A:AA
                                          Gene:
                                          ZNF559 (Varview), ZNF559-ZNF177 (Varview)
                                          Functional Consequence:
                                          intron_variant,frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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