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Items: 1 to 20 of 1000

1.

rs1491573042 has merged into rs374852336 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT [Show Flanks]
    Chromosome:
    19:58241177 (GRCh38)
    19:58752543 (GRCh37)
    Canonical SPDI:
    NC_000019.10:58241162:ATATATATATATATATAT:ATATATATATATAT,NC_000019.10:58241162:ATATATATATATATATAT:ATATATATATATATAT,NC_000019.10:58241162:ATATATATATATATATAT:ATATATATATATATATATAT,NC_000019.10:58241162:ATATATATATATATATAT:ATATATATATATATATATATAT,NC_000019.10:58241162:ATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000019.10:58241162:ATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000019.10:58241162:ATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000019.10:58241162:ATATATATATATATATAT:ATATATATATATATATATATATATATATAT
    Gene:
    ZNF544 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATATATATATATATAT=0./0 (ALFA)
    AT=0.00475/130 (TOMMO)
    HGVS:
    2.

    rs1491535641 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      19:58229657 (GRCh38)
      19:58741023 (GRCh37)
      Canonical SPDI:
      NC_000019.10:58229656:CT:
      Gene:
      ZNF544 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1491492506 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT
        Chromosome:
        no mapping
        Canonical SPDI:
        4.

        rs1491470148 [Homo sapiens]
          Variant type:
          SNV:
          Alleles:
          ->TTTTATATATATAT
          Chromosome:
          no mapping
          Canonical SPDI:
          5.

          rs1491447215 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TT>- [Show Flanks]
            Chromosome:
            19:58241945 (GRCh38)
            19:58753311 (GRCh37)
            Canonical SPDI:
            NC_000019.10:58241943:TTT:T
            Gene:
            ZNF544 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            -=0.00005/7 (GnomAD)
            HGVS:
            6.

            rs1491425843 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CT>- [Show Flanks]
              Chromosome:
              19:58256956 (GRCh38)
              19:58768322 (GRCh37)
              Canonical SPDI:
              NC_000019.10:58256953:CTCT:CT
              Gene:
              ZNF544 (Varview), LOC124904785 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CTCT=0./0 (ALFA)
              -=0.000015/4 (TOPMED)
              -=0.000036/5 (GnomAD)
              HGVS:
              7.

              rs1491408473 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->A,AGATATATATA,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATTTAAATACATATATATATATA,ATATATATATATTTAAATATATATATATATA,ATATATATATTTTAATATATATATATATATATTTAAATATATATATATATATA,ATATATATTTAAA,ATATATG,ATATTTAAATATATATATATATATA,ATATTTAAATATATATATATATATATATATATATA,ATATTTTAATATATATA,ATATTTTAATATATATATATATTTTAATATATATATATATATATATATATA,ATATTTTAATATATATATATATTTTAATATATATATATATATATTTAAATATATATATATAGATATATATATA,ATATTTTAATATATATATATATTTTAATATATATATATATATATTTTAATATATATATATATATATATATATATA,ATATTTTAATATATATATATATTTTAATATATATATATATATTTAAATATAGATATATATATATATATATATA,ATATTTTAATATATATATATTTTAATATATATATATATATATA,ATTTAAATATATATATATATATATATATATA,ATTTAAATATATATATATTTTAATATATATATATATATATTTAAATATATATATATATATA,ATTTTAATATATATATA,CTATA [Show Flanks]
                Chromosome:
                19:58241180 (GRCh38)
                19:58752547 (GRCh37)
                Canonical SPDI:
                NC_000019.10:58241180::A,NC_000019.10:58241180::AGATATATATA,NC_000019.10:58241180::ATA,NC_000019.10:58241180::ATATA,NC_000019.10:58241180::ATATATA,NC_000019.10:58241180::ATATATATA,NC_000019.10:58241180::ATATATATATA,NC_000019.10:58241180::ATATATATATATA,NC_000019.10:58241180::ATATATATATATATA,NC_000019.10:58241180::ATATATATATATATATA,NC_000019.10:58241180::ATATATATATATATATATA,NC_000019.10:58241180::ATATATATATATATTTAAATACATATATATATATA,NC_000019.10:58241180::ATATATATATATTTAAATATATATATATATA,NC_000019.10:58241180::ATATATATATTTTAATATATATATATATATATTTAAATATATATATATATATA,NC_000019.10:58241180::ATATATATTTAAA,NC_000019.10:58241180::ATATATG,NC_000019.10:58241180::ATATTTAAATATATATATATATATA,NC_000019.10:58241180::ATATTTAAATATATATATATATATATATATATATA,NC_000019.10:58241180::ATATTTTAATATATATA,NC_000019.10:58241180::ATATTTTAATATATATATATATTTTAATATATATATATATATATATATATA,NC_000019.10:58241180::ATATTTTAATATATATATATATTTTAATATATATATATATATATTTAAATATATATATATAGATATATATATA,NC_000019.10:58241180::ATATTTTAATATATATATATATTTTAATATATATATATATATATTTTAATATATATATATATATATATATATATA,NC_000019.10:58241180::ATATTTTAATATATATATATATTTTAATATATATATATATATTTAAATATAGATATATATATATATATATATA,NC_000019.10:58241180::ATATTTTAATATATATATATTTTAATATATATATATATATATA,NC_000019.10:58241180::ATTTAAATATATATATATATATATATATATA,NC_000019.10:58241180::ATTTAAATATATATATATTTTAATATATATATATATATATTTAAATATATATATATATATA,NC_000019.10:58241180::ATTTTAATATATATATA,NC_000019.10:58241180::CTATA
                Gene:
                ZNF544 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                ATA=0./0 (ALFA)
                ATTTTAATATATATATA=0.000004/1 (TOPMED)
                HGVS:
                NC_000019.10:g.58241180_58241181insA, NC_000019.10:g.58241180_58241181insAGATATATATA, NC_000019.10:g.58241180_58241181insATA, NC_000019.10:g.58241180_58241181insATATA, NC_000019.10:g.58241180_58241181insATATATA, NC_000019.10:g.58241180_58241181insATATATATA, NC_000019.10:g.58241180_58241181insATATATATATA, NC_000019.10:g.58241180_58241181insATATATATATATA, NC_000019.10:g.58241180_58241181insATATATATATATATA, NC_000019.10:g.58241180_58241181insATATATATATATATATA, NC_000019.10:g.58241180_58241181insATATATATATATATATATA, NC_000019.10:g.58241180_58241181insATATATATATATATTTAAATACATATATATATATA, NC_000019.10:g.58241180_58241181insATATATATATATTTAAATATATATATATATA, NC_000019.10:g.58241180_58241181insATATATATATTTTAATATATATATATATATATTTAAATATATATATATATATA, NC_000019.10:g.58241180_58241181insATATATATTTAAA, NC_000019.10:g.58241180_58241181insATATATG, NC_000019.10:g.58241180_58241181insATATTTAAATATATATATATATATA, NC_000019.10:g.58241180_58241181insATATTTAAATATATATATATATATATATATATATA, NC_000019.10:g.58241180_58241181insATATTTTAATATATATA, NC_000019.10:g.58241180_58241181insATATTTTAATATATATATATATTTTAATATATATATATATATATATATATA, NC_000019.10:g.58241180_58241181insATATTTTAATATATATATATATTTTAATATATATATATATATATTTAAATATATATATATAGATATATATATA, NC_000019.10:g.58241180_58241181insATATTTTAATATATATATATATTTTAATATATATATATATATATTTTAATATATATATATATATATATATATATA, NC_000019.10:g.58241180_58241181insATATTTTAATATATATATATATTTTAATATATATATATATATTTAAATATAGATATATATATATATATATATA, NC_000019.10:g.58241180_58241181insATATTTTAATATATATATATTTTAATATATATATATATATATA, NC_000019.10:g.58241180_58241181insATTTAAATATATATATATATATATATATATA, NC_000019.10:g.58241180_58241181insATTTAAATATATATATATTTTAATATATATATATATATATTTAAATATATATATATATATA, NC_000019.10:g.58241180_58241181insATTTTAATATATATATA, NC_000019.10:g.58241180_58241181insCTATA, NC_000019.9:g.58752546_58752547insA, NC_000019.9:g.58752546_58752547insAGATATATATA, NC_000019.9:g.58752546_58752547insATA, NC_000019.9:g.58752546_58752547insATATA, NC_000019.9:g.58752546_58752547insATATATA, NC_000019.9:g.58752546_58752547insATATATATA, NC_000019.9:g.58752546_58752547insATATATATATA, NC_000019.9:g.58752546_58752547insATATATATATATA, NC_000019.9:g.58752546_58752547insATATATATATATATA, NC_000019.9:g.58752546_58752547insATATATATATATATATA, NC_000019.9:g.58752546_58752547insATATATATATATATATATA, NC_000019.9:g.58752546_58752547insATATATATATATATTTAAATACATATATATATATA, NC_000019.9:g.58752546_58752547insATATATATATATTTAAATATATATATATATA, NC_000019.9:g.58752546_58752547insATATATATATTTTAATATATATATATATATATTTAAATATATATATATATATA, NC_000019.9:g.58752546_58752547insATATATATTTAAA, NC_000019.9:g.58752546_58752547insATATATG, NC_000019.9:g.58752546_58752547insATATTTAAATATATATATATATATA, NC_000019.9:g.58752546_58752547insATATTTAAATATATATATATATATATATATATATA, NC_000019.9:g.58752546_58752547insATATTTTAATATATATA, NC_000019.9:g.58752546_58752547insATATTTTAATATATATATATATTTTAATATATATATATATATATATATATA, NC_000019.9:g.58752546_58752547insATATTTTAATATATATATATATTTTAATATATATATATATATATTTAAATATATATATATAGATATATATATA, NC_000019.9:g.58752546_58752547insATATTTTAATATATATATATATTTTAATATATATATATATATATTTTAATATATATATATATATATATATATATA, NC_000019.9:g.58752546_58752547insATATTTTAATATATATATATATTTTAATATATATATATATATTTAAATATAGATATATATATATATATATATA, NC_000019.9:g.58752546_58752547insATATTTTAATATATATATATTTTAATATATATATATATATATA, NC_000019.9:g.58752546_58752547insATTTAAATATATATATATATATATATATATA, NC_000019.9:g.58752546_58752547insATTTAAATATATATATATTTTAATATATATATATATATATTTAAATATATATATATATATA, NC_000019.9:g.58752546_58752547insATTTTAATATATATATA, NC_000019.9:g.58752546_58752547insCTATA
                8.

                rs1491373176 has merged into rs57421577 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  19:58241186 (GRCh38)
                  19:58752552 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:58241179:TTTTTTTTTTTTT:TTTTTT,NC_000019.10:58241179:TTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:58241179:TTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:58241179:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:58241179:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:58241179:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:58241179:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:58241179:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:58241179:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:58241179:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:58241179:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:58241179:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:58241179:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:58241179:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58241179:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58241179:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58241179:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58241179:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  ZNF544 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTT=0./0 (ALFA)
                  -=0.01493/8 (NorthernSweden)
                  T=0.0182/25 (Korea1K)
                  HGVS:
                  NC_000019.10:g.58241186_58241192del, NC_000019.10:g.58241188_58241192del, NC_000019.10:g.58241189_58241192del, NC_000019.10:g.58241190_58241192del, NC_000019.10:g.58241191_58241192del, NC_000019.10:g.58241192del, NC_000019.10:g.58241192dup, NC_000019.10:g.58241191_58241192dup, NC_000019.10:g.58241190_58241192dup, NC_000019.10:g.58241189_58241192dup, NC_000019.10:g.58241188_58241192dup, NC_000019.10:g.58241187_58241192dup, NC_000019.10:g.58241186_58241192dup, NC_000019.10:g.58241185_58241192dup, NC_000019.10:g.58241184_58241192dup, NC_000019.10:g.58241182_58241192dup, NC_000019.10:g.58241180_58241192dup, NC_000019.10:g.58241192_58241193insTTTTTTTTTTTTTTTTT, NC_000019.9:g.58752552_58752558del, NC_000019.9:g.58752554_58752558del, NC_000019.9:g.58752555_58752558del, NC_000019.9:g.58752556_58752558del, NC_000019.9:g.58752557_58752558del, NC_000019.9:g.58752558del, NC_000019.9:g.58752558dup, NC_000019.9:g.58752557_58752558dup, NC_000019.9:g.58752556_58752558dup, NC_000019.9:g.58752555_58752558dup, NC_000019.9:g.58752554_58752558dup, NC_000019.9:g.58752553_58752558dup, NC_000019.9:g.58752552_58752558dup, NC_000019.9:g.58752551_58752558dup, NC_000019.9:g.58752550_58752558dup, NC_000019.9:g.58752548_58752558dup, NC_000019.9:g.58752546_58752558dup, NC_000019.9:g.58752558_58752559insTTTTTTTTTTTTTTTTT
                  9.

                  rs1491369616 has merged into rs11340816 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    19:58266525 (GRCh38)
                    19:58777891 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58266514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    ZNF544 (Varview), LOC124904787 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAA=0./0 (ALFA)
                    HGVS:
                    NC_000019.10:g.58266525_58266539del, NC_000019.10:g.58266526_58266539del, NC_000019.10:g.58266527_58266539del, NC_000019.10:g.58266528_58266539del, NC_000019.10:g.58266529_58266539del, NC_000019.10:g.58266530_58266539del, NC_000019.10:g.58266532_58266539del, NC_000019.10:g.58266533_58266539del, NC_000019.10:g.58266534_58266539del, NC_000019.10:g.58266535_58266539del, NC_000019.10:g.58266536_58266539del, NC_000019.10:g.58266537_58266539del, NC_000019.10:g.58266538_58266539del, NC_000019.10:g.58266539del, NC_000019.10:g.58266539dup, NC_000019.10:g.58266538_58266539dup, NC_000019.10:g.58266537_58266539dup, NC_000019.10:g.58266536_58266539dup, NC_000019.10:g.58266535_58266539dup, NC_000019.10:g.58266532_58266539dup, NC_000019.10:g.58266531_58266539dup, NC_000019.9:g.58777891_58777905del, NC_000019.9:g.58777892_58777905del, NC_000019.9:g.58777893_58777905del, NC_000019.9:g.58777894_58777905del, NC_000019.9:g.58777895_58777905del, NC_000019.9:g.58777896_58777905del, NC_000019.9:g.58777898_58777905del, NC_000019.9:g.58777899_58777905del, NC_000019.9:g.58777900_58777905del, NC_000019.9:g.58777901_58777905del, NC_000019.9:g.58777902_58777905del, NC_000019.9:g.58777903_58777905del, NC_000019.9:g.58777904_58777905del, NC_000019.9:g.58777905del, NC_000019.9:g.58777905dup, NC_000019.9:g.58777904_58777905dup, NC_000019.9:g.58777903_58777905dup, NC_000019.9:g.58777902_58777905dup, NC_000019.9:g.58777901_58777905dup, NC_000019.9:g.58777898_58777905dup, NC_000019.9:g.58777897_58777905dup
                    10.

                    rs1491323772 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->GAA [Show Flanks]
                      Chromosome:
                      19:58275784 (GRCh38)
                      19:58787151 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:58275784:AA:AAGAA
                      Gene:
                      ZNF544 (Varview), LOC124904787 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AAGAA=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1491273234 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        19:58266514 (GRCh38)
                        19:58777880 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:58266513:CA:
                        Gene:
                        ZNF544 (Varview), LOC124904787 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491254513 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->AAA [Show Flanks]
                          Chromosome:
                          19:58275803 (GRCh38)
                          19:58787170 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:58275803::AAA
                          Gene:
                          ZNF544 (Varview), LOC124904787 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAA=0./0 (ALFA)
                          AAA=0.00002/2 (GnomAD)
                          AAA=0.00004/1 (TOMMO)
                          HGVS:
                          13.

                          rs1491240435 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->A [Show Flanks]
                            Chromosome:
                            19:58237963 (GRCh38)
                            19:58749330 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:58237963::A
                            Gene:
                            ZNF544 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000043/6 (GnomAD)
                            A=0.000045/12 (TOPMED)
                            HGVS:
                            14.

                            rs1491208665 has merged into rs57148438 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                              Chromosome:
                              19:58275793 (GRCh38)
                              19:58787159 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58275783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                              Gene:
                              ZNF544 (Varview), LOC124904787 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAAAAAA=0./0 (ALFA)
                              HGVS:
                              NC_000019.10:g.58275793_58275802del, NC_000019.10:g.58275796_58275802del, NC_000019.10:g.58275798_58275802del, NC_000019.10:g.58275799_58275802del, NC_000019.10:g.58275800_58275802del, NC_000019.10:g.58275801_58275802del, NC_000019.10:g.58275802del, NC_000019.10:g.58275802dup, NC_000019.10:g.58275801_58275802dup, NC_000019.10:g.58275800_58275802dup, NC_000019.10:g.58275799_58275802dup, NC_000019.10:g.58275798_58275802dup, NC_000019.10:g.58275797_58275802dup, NC_000019.10:g.58275796_58275802dup, NC_000019.10:g.58275795_58275802dup, NC_000019.10:g.58275794_58275802dup, NC_000019.10:g.58275793_58275802dup, NC_000019.10:g.58275792_58275802dup, NC_000019.10:g.58275791_58275802dup, NC_000019.10:g.58275790_58275802dup, NC_000019.10:g.58275789_58275802dup, NC_000019.10:g.58275788_58275802dup, NC_000019.10:g.58275786_58275802dup, NC_000019.10:g.58275785_58275802dup, NC_000019.10:g.58275784_58275802dup, NC_000019.10:g.58275802_58275803insAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.58275802_58275803insAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.58275802_58275803insAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.58275802_58275803insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.58275802_58275803insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.58787159_58787168del, NC_000019.9:g.58787162_58787168del, NC_000019.9:g.58787164_58787168del, NC_000019.9:g.58787165_58787168del, NC_000019.9:g.58787166_58787168del, NC_000019.9:g.58787167_58787168del, NC_000019.9:g.58787168del, NC_000019.9:g.58787168dup, NC_000019.9:g.58787167_58787168dup, NC_000019.9:g.58787166_58787168dup, NC_000019.9:g.58787165_58787168dup, NC_000019.9:g.58787164_58787168dup, NC_000019.9:g.58787163_58787168dup, NC_000019.9:g.58787162_58787168dup, NC_000019.9:g.58787161_58787168dup, NC_000019.9:g.58787160_58787168dup, NC_000019.9:g.58787159_58787168dup, NC_000019.9:g.58787158_58787168dup, NC_000019.9:g.58787157_58787168dup, NC_000019.9:g.58787156_58787168dup, NC_000019.9:g.58787155_58787168dup, NC_000019.9:g.58787154_58787168dup, NC_000019.9:g.58787152_58787168dup, NC_000019.9:g.58787151_58787168dup, NC_000019.9:g.58787150_58787168dup, NC_000019.9:g.58787168_58787169insAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.58787168_58787169insAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.58787168_58787169insAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.58787168_58787169insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.58787168_58787169insAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007067363.1:n.531_540del, XR_007067363.1:n.534_540del, XR_007067363.1:n.536_540del, XR_007067363.1:n.537_540del, XR_007067363.1:n.538_540del, XR_007067363.1:n.539_540del, XR_007067363.1:n.540del, XR_007067363.1:n.540dup, XR_007067363.1:n.539_540dup, XR_007067363.1:n.538_540dup, XR_007067363.1:n.537_540dup, XR_007067363.1:n.536_540dup, XR_007067363.1:n.535_540dup, XR_007067363.1:n.534_540dup, XR_007067363.1:n.533_540dup, XR_007067363.1:n.532_540dup, XR_007067363.1:n.531_540dup, XR_007067363.1:n.530_540dup, XR_007067363.1:n.529_540dup, XR_007067363.1:n.528_540dup, XR_007067363.1:n.527_540dup, XR_007067363.1:n.526_540dup, XR_007067363.1:n.524_540dup, XR_007067363.1:n.523_540dup, XR_007067363.1:n.522_540dup, XR_007067363.1:n.540_541insTTTTTTTTTTTTTTTTTTTT, XR_007067363.1:n.540_541insTTTTTTTTTTTTTTTTTTTTT, XR_007067363.1:n.540_541insTTTTTTTTTTTTTTTTTTTTTT, XR_007067363.1:n.540_541insTTTTTTTTTTTTTTTTTTTTTTTT, XR_007067363.1:n.540_541insTTTTTTTTTTTTTTTTTTTTTTTTT
                              15.

                              rs1491207855 [Homo sapiens]
                                Variant type:
                                SNV:
                                Alleles:
                                ->GTGGAAGGGTGT
                                Chromosome:
                                no mapping
                                Canonical SPDI:
                                16.

                                rs1491197079 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CT>- [Show Flanks]
                                  Chromosome:
                                  19:58247949 (GRCh38)
                                  19:58759315 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:58247946:CTCT:CT
                                  Gene:
                                  ZNF544 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CTCT=0./0 (ALFA)
                                  -=0.000026/7 (TOPMED)
                                  -=0.000043/6 (GnomAD)
                                  -=0.000312/2 (1000Genomes)
                                  -=0.001026/17 (TOMMO)
                                  -=0.001092/2 (Korea1K)
                                  HGVS:
                                  17.

                                  rs1491194874 has merged into rs71190011 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTTTTTTTTTTT>-,T,TT,TTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    19:58232356 (GRCh38)
                                    19:58743722 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58232346:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    ZNF544 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTT=0./0 (ALFA)
                                    -=0.325/13 (GENOME_DK)
                                    HGVS:
                                    NC_000019.10:g.58232356_58232369del, NC_000019.10:g.58232357_58232369del, NC_000019.10:g.58232358_58232369del, NC_000019.10:g.58232359_58232369del, NC_000019.10:g.58232362_58232369del, NC_000019.10:g.58232364_58232369del, NC_000019.10:g.58232365_58232369del, NC_000019.10:g.58232366_58232369del, NC_000019.10:g.58232367_58232369del, NC_000019.10:g.58232368_58232369del, NC_000019.10:g.58232369del, NC_000019.10:g.58232369dup, NC_000019.10:g.58232368_58232369dup, NC_000019.10:g.58232367_58232369dup, NC_000019.10:g.58232366_58232369dup, NC_000019.10:g.58232365_58232369dup, NC_000019.10:g.58232364_58232369dup, NC_000019.10:g.58232363_58232369dup, NC_000019.10:g.58232369_58232370insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.58743722_58743735del, NC_000019.9:g.58743723_58743735del, NC_000019.9:g.58743724_58743735del, NC_000019.9:g.58743725_58743735del, NC_000019.9:g.58743728_58743735del, NC_000019.9:g.58743730_58743735del, NC_000019.9:g.58743731_58743735del, NC_000019.9:g.58743732_58743735del, NC_000019.9:g.58743733_58743735del, NC_000019.9:g.58743734_58743735del, NC_000019.9:g.58743735del, NC_000019.9:g.58743735dup, NC_000019.9:g.58743734_58743735dup, NC_000019.9:g.58743733_58743735dup, NC_000019.9:g.58743732_58743735dup, NC_000019.9:g.58743731_58743735dup, NC_000019.9:g.58743730_58743735dup, NC_000019.9:g.58743729_58743735dup, NC_000019.9:g.58743735_58743736insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    18.

                                    rs1491194543 has merged into rs58006684 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
                                      Chromosome:
                                      19:58239912 (GRCh38)
                                      19:58751278 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:58239898:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:58239898:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:58239898:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:58239898:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:58239898:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:58239898:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:58239898:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:58239898:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58239898:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
                                      Gene:
                                      ZNF544 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAAAAAAAAAAAA=0./0 (ALFA)
                                      A=0.375/15 (GENOME_DK)
                                      HGVS:
                                      19.

                                      rs1491169445 [Homo sapiens]
                                        Variant type:
                                        INS
                                        Alleles:
                                        ->G [Show Flanks]
                                        Chromosome:
                                        19:58272164 (GRCh38)
                                        19:58783531 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:58272164::G
                                        Gene:
                                        ZNF544 (Varview), LOC124904787 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000011/3 (TOPMED)
                                        G=0.000064/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1491164801 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          CT>- [Show Flanks]
                                          Chromosome:
                                          19:58245242 (GRCh38)
                                          19:58756608 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:58245241:CT:
                                          Gene:
                                          ZNF544 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0.000084/1 (ALFA)
                                          -=0.000029/4 (GnomAD)
                                          -=0.00027/1 (TWINSUK)
                                          -=0.000778/3 (ALSPAC)
                                          HGVS:

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