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Items: 1 to 20 of 2259

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3.

rs1491364353 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GC [Show Flanks]
    Chromosome:
    3:195634578 (GRCh38)
    3:195361450 (GRCh37)
    Canonical SPDI:
    NC_000003.12:195634578:GC:GCGC
    Validated:
    by frequency,by alfa
    MAF:
    GCGC=0.000084/1 (ALFA)
    GC=0.000016/2 (GnomAD)
    HGVS:
    5.

    rs1491163976 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      3:195637218 (GRCh38)
      3:195364090 (GRCh37)
      Canonical SPDI:
      NC_000003.12:195637218:T:TT
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TT=0./0 (ALFA)
      T=0.000035/1 (TOMMO)
      T=0.00057/70 (GnomAD)
      HGVS:
      6.

      rs1491133993 has merged into rs1188129080 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        3:195634572 (GRCh38)
        3:195361443 (GRCh37)
        Canonical SPDI:
        NC_000003.12:195634559:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:195634559:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:195634559:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:195634559:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:195634559:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:195634559:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:195634559:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195634559:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195634559:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195634559:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195634559:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:195634559:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTTTT=0./0 (ALFA)
        HGVS:
        NC_000003.12:g.195634572_195634578del, NC_000003.12:g.195634575_195634578del, NC_000003.12:g.195634576_195634578del, NC_000003.12:g.195634577_195634578del, NC_000003.12:g.195634578del, NC_000003.12:g.195634578dup, NC_000003.12:g.195634577_195634578dup, NC_000003.12:g.195634576_195634578dup, NC_000003.12:g.195634575_195634578dup, NC_000003.12:g.195634574_195634578dup, NC_000003.12:g.195634573_195634578dup, NC_000003.12:g.195634572_195634578dup, NC_000003.11:g.195361443_195361449del, NC_000003.11:g.195361446_195361449del, NC_000003.11:g.195361447_195361449del, NC_000003.11:g.195361448_195361449del, NC_000003.11:g.195361449del, NC_000003.11:g.195361449dup, NC_000003.11:g.195361448_195361449dup, NC_000003.11:g.195361447_195361449dup, NC_000003.11:g.195361446_195361449dup, NC_000003.11:g.195361445_195361449dup, NC_000003.11:g.195361444_195361449dup, NC_000003.11:g.195361443_195361449dup, NT_187532.1:g.5069_5075del, NT_187532.1:g.5072_5075del, NT_187532.1:g.5073_5075del, NT_187532.1:g.5074_5075del, NT_187532.1:g.5075del, NT_187532.1:g.5075dup, NT_187532.1:g.5074_5075dup, NT_187532.1:g.5073_5075dup, NT_187532.1:g.5072_5075dup, NT_187532.1:g.5071_5075dup, NT_187532.1:g.5070_5075dup, NT_187532.1:g.5069_5075dup, NT_187689.1:g.5069_5075del, NT_187689.1:g.5072_5075del, NT_187689.1:g.5073_5075del, NT_187689.1:g.5074_5075del, NT_187689.1:g.5075del, NT_187689.1:g.5075dup, NT_187689.1:g.5074_5075dup, NT_187689.1:g.5073_5075dup, NT_187689.1:g.5072_5075dup, NT_187689.1:g.5071_5075dup, NT_187689.1:g.5070_5075dup, NT_187689.1:g.5069_5075dup, NT_187678.1:g.161478_161484del, NT_187678.1:g.161481_161484del, NT_187678.1:g.161482_161484del, NT_187678.1:g.161483_161484del, NT_187678.1:g.161484del, NT_187678.1:g.161484dup, NT_187678.1:g.161483_161484dup, NT_187678.1:g.161482_161484dup, NT_187678.1:g.161481_161484dup, NT_187678.1:g.161480_161484dup, NT_187678.1:g.161479_161484dup, NT_187678.1:g.161478_161484dup, NT_187691.1:g.160545_160551del, NT_187691.1:g.160548_160551del, NT_187691.1:g.160549_160551del, NT_187691.1:g.160550_160551del, NT_187691.1:g.160551del, NT_187691.1:g.160551dup, NT_187691.1:g.160550_160551dup, NT_187691.1:g.160549_160551dup, NT_187691.1:g.160548_160551dup, NT_187691.1:g.160547_160551dup, NT_187691.1:g.160546_160551dup, NT_187691.1:g.160545_160551dup, NT_187690.1:g.159108_159114del, NT_187690.1:g.159111_159114del, NT_187690.1:g.159112_159114del, NT_187690.1:g.159113_159114del, NT_187690.1:g.159114del, NT_187690.1:g.159114dup, NT_187690.1:g.159113_159114dup, NT_187690.1:g.159112_159114dup, NT_187690.1:g.159111_159114dup, NT_187690.1:g.159110_159114dup, NT_187690.1:g.159109_159114dup, NT_187690.1:g.159108_159114dup, NT_187688.1:g.158396_158402del, NT_187688.1:g.158399_158402del, NT_187688.1:g.158400_158402del, NT_187688.1:g.158401_158402del, NT_187688.1:g.158402del, NT_187688.1:g.158402dup, NT_187688.1:g.158401_158402dup, NT_187688.1:g.158400_158402dup, NT_187688.1:g.158399_158402dup, NT_187688.1:g.158398_158402dup, NT_187688.1:g.158397_158402dup, NT_187688.1:g.158396_158402dup, NT_187649.1:g.157834_157840del, NT_187649.1:g.157837_157840del, NT_187649.1:g.157838_157840del, NT_187649.1:g.157839_157840del, NT_187649.1:g.157840del, NT_187649.1:g.157840dup, NT_187649.1:g.157839_157840dup, NT_187649.1:g.157838_157840dup, NT_187649.1:g.157837_157840dup, NT_187649.1:g.157836_157840dup, NT_187649.1:g.157835_157840dup, NT_187649.1:g.157834_157840dup
        7.
        8.

        rs1490838272 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          3:195638727 (GRCh38)
          3:195365598 (GRCh37)
          Canonical SPDI:
          NC_000003.12:195638726:C:T
          Validated:
          by frequency,by alfa
          MAF:
          T=0.000169/2 (ALFA)
          T=0.000109/15 (GnomAD)
          HGVS:
          10.
          11.

          rs1490542776 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            3:195637199 (GRCh38)
            3:195364070 (GRCh37)
            Canonical SPDI:
            NC_000003.12:195637198:C:T
            Validated:
            by frequency,by alfa
            MAF:
            T=0.000084/1 (ALFA)
            T=0.000014/2 (GnomAD)
            HGVS:
            12.

            rs1490484391 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              3:195638925 (GRCh38)
              3:195365796 (GRCh37)
              Canonical SPDI:
              NC_000003.12:195638924:G:A
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              HGVS:
              13.

              rs1490136176 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                3:195633653 (GRCh38)
                3:195360524 (GRCh37)
                Canonical SPDI:
                NC_000003.12:195633652:A:G
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                16.

                rs1489192104 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->A [Show Flanks]
                  Chromosome:
                  3:195637993 (GRCh38)
                  3:195364865 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:195637993:A:AA
                  Validated:
                  by frequency,by alfa
                  MAF:
                  AA=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  20.

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