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Items: 1 to 20 of 11079

1.

rs1491559516 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AA>- [Show Flanks]
    Chromosome:
    X:100917635 (GRCh38)
    X:100172624 (GRCh37)
    Canonical SPDI:
    NC_000023.11:100917634:AA:
    Gene:
    XKRX (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491559236 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      X:100917681 (GRCh38)
      X:100172671 (GRCh37)
      Canonical SPDI:
      NC_000023.11:100917681:G:GG
      Gene:
      XKRX (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by cluster
      MAF:
      G=0.00034/4 (TOMMO)
      HGVS:
      3.

      rs1491536744 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GAAAGAAAGAAAGAAAGAAAGA [Show Flanks]
        Chromosome:
        X:100917635 (GRCh38)
        X:100172625 (GRCh37)
        Canonical SPDI:
        NC_000023.11:100917635:AGAAAGAAAGAAAGAAAGAAAGA:AGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGA
        Gene:
        XKRX (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency
        MAF:
        AGAAAGAAAGAAAGAAAGAAAG=0.00003/1 (GnomAD)
        HGVS:
        4.

        rs1491531802 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->ACAA,ACAT,AT [Show Flanks]
          Chromosome:
          X:100916110 (GRCh38)
          X:100171100 (GRCh37)
          Canonical SPDI:
          NC_000023.11:100916110::ACAA,NC_000023.11:100916110::ACAT,NC_000023.11:100916110::AT
          Gene:
          XKRX (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          ACAT=0./0 (ALFA)
          AT=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1491526901 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GA>- [Show Flanks]
            Chromosome:
            X:100917653 (GRCh38)
            X:100172642 (GRCh37)
            Canonical SPDI:
            NC_000023.11:100917651:AGA:A
            Gene:
            XKRX (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:
            6.

            rs1491464348 has merged into rs745938618 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              X:100923848 (GRCh38)
              X:100178837 (GRCh37)
              Canonical SPDI:
              NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:100923837:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              XKRX (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTTTTT=0./0 (ALFA)
              -=0.000008/2 (TOPMED)
              T=0.35/14 (GENOME_DK)
              HGVS:
              NC_000023.11:g.100923848_100923854del, NC_000023.11:g.100923852_100923854del, NC_000023.11:g.100923853_100923854del, NC_000023.11:g.100923854del, NC_000023.11:g.100923854dup, NC_000023.11:g.100923853_100923854dup, NC_000023.11:g.100923852_100923854dup, NC_000023.11:g.100923851_100923854dup, NC_000023.11:g.100923850_100923854dup, NC_000023.11:g.100923849_100923854dup, NC_000023.11:g.100923847_100923854dup, NC_000023.11:g.100923846_100923854dup, NC_000023.10:g.100178837_100178843del, NC_000023.10:g.100178841_100178843del, NC_000023.10:g.100178842_100178843del, NC_000023.10:g.100178843del, NC_000023.10:g.100178843dup, NC_000023.10:g.100178842_100178843dup, NC_000023.10:g.100178841_100178843dup, NC_000023.10:g.100178840_100178843dup, NC_000023.10:g.100178839_100178843dup, NC_000023.10:g.100178838_100178843dup, NC_000023.10:g.100178836_100178843dup, NC_000023.10:g.100178835_100178843dup, NG_021224.1:g.10066_10072del, NG_021224.1:g.10070_10072del, NG_021224.1:g.10071_10072del, NG_021224.1:g.10072del, NG_021224.1:g.10072dup, NG_021224.1:g.10071_10072dup, NG_021224.1:g.10070_10072dup, NG_021224.1:g.10069_10072dup, NG_021224.1:g.10068_10072dup, NG_021224.1:g.10067_10072dup, NG_021224.1:g.10065_10072dup, NG_021224.1:g.10064_10072dup
              7.

              rs1491460912 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GA>- [Show Flanks]
                Chromosome:
                X:100917637 (GRCh38)
                X:100172626 (GRCh37)
                Canonical SPDI:
                NC_000023.11:100917635:AGA:A
                Gene:
                XKRX (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.00051/6 (ALFA)
                HGVS:
                8.

                rs1491445884 has merged into rs56903056 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                  Chromosome:
                  X:100908127 (GRCh38)
                  X:100163116 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:100908106:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                  Gene:
                  XKRX (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
                  -=0.5/20 (GENOME_DK)
                  HGVS:
                  NC_000023.11:g.100908107GT[10], NC_000023.11:g.100908107GT[11], NC_000023.11:g.100908107GT[12], NC_000023.11:g.100908107GT[13], NC_000023.11:g.100908107GT[14], NC_000023.11:g.100908107GT[15], NC_000023.11:g.100908107GT[17], NC_000023.11:g.100908107GT[18], NC_000023.11:g.100908107GT[19], NC_000023.11:g.100908107GT[20], NC_000023.11:g.100908107GT[21], NC_000023.11:g.100908107GT[22], NC_000023.11:g.100908107GT[23], NC_000023.11:g.100908107GT[24], NC_000023.11:g.100908107GT[25], NC_000023.11:g.100908107GT[26], NC_000023.11:g.100908107GT[27], NC_000023.11:g.100908107GT[28], NC_000023.11:g.100908107GT[29], NC_000023.11:g.100908107GT[30], NC_000023.10:g.100163096GT[10], NC_000023.10:g.100163096GT[11], NC_000023.10:g.100163096GT[12], NC_000023.10:g.100163096GT[13], NC_000023.10:g.100163096GT[14], NC_000023.10:g.100163096GT[15], NC_000023.10:g.100163096GT[17], NC_000023.10:g.100163096GT[18], NC_000023.10:g.100163096GT[19], NC_000023.10:g.100163096GT[20], NC_000023.10:g.100163096GT[21], NC_000023.10:g.100163096GT[22], NC_000023.10:g.100163096GT[23], NC_000023.10:g.100163096GT[24], NC_000023.10:g.100163096GT[25], NC_000023.10:g.100163096GT[26], NC_000023.10:g.100163096GT[27], NC_000023.10:g.100163096GT[28], NC_000023.10:g.100163096GT[29], NC_000023.10:g.100163096GT[30]
                  9.

                  rs1491412490 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->ATGTGT [Show Flanks]
                    Chromosome:
                    X:100908107 (GRCh38)
                    X:100163097 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:100908107:TGTGT:TGTGTATGTGT
                    Gene:
                    XKRX (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    TGTGTATGTGT=0./0 (ALFA)
                    TGTGTA=0.00538/2 (GnomAD)
                    HGVS:
                    10.

                    rs1491397717 has merged into rs1446256296 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      GA>-,GAGA [Show Flanks]
                      Chromosome:
                      X:100917657 (GRCh38)
                      X:100172646 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:100917655:AGA:A,NC_000023.11:100917655:AGA:AGAGA
                      Gene:
                      XKRX (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      AG=0.00009/5 (GnomAD)
                      HGVS:
                      11.

                      rs1491356622 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GA>- [Show Flanks]
                        Chromosome:
                        X:100891762 (GRCh38)
                        X:100146751 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:100891760:AGA:A
                        Gene:
                        XKRX (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491300085 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->G [Show Flanks]
                          Chromosome:
                          X:100917656 (GRCh38)
                          X:100172646 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:100917656:G:GG
                          Gene:
                          XKRX (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          GG=0./0 (ALFA)
                          G=0.00004/2 (GnomAD)
                          HGVS:
                          13.

                          rs1491288663 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->GAAAGAAAGAAGGAAAGAAA [Show Flanks]
                            Chromosome:
                            X:100917717 (GRCh38)
                            X:100172707 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:100917717:GAAAGAAA:GAAAGAAAGAAAGAAAGAAGGAAAGAAA
                            Gene:
                            XKRX (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency
                            MAF:
                            GAAAGAAAGAAAGAAAGAAG=0.00001/1 (GnomAD)
                            HGVS:
                            14.

                            rs1491278645 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->G [Show Flanks]
                              Chromosome:
                              X:100917652 (GRCh38)
                              X:100172642 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:100917652:G:GG
                              Gene:
                              XKRX (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              GG=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1491228268 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GA>- [Show Flanks]
                                Chromosome:
                                X:100917682 (GRCh38)
                                X:100172671 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:100917680:AGA:A
                                Gene:
                                XKRX (Varview)
                                Functional Consequence:
                                intron_variant
                                HGVS:
                                16.

                                rs1491223752 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GA>- [Show Flanks]
                                  Chromosome:
                                  X:100917718 (GRCh38)
                                  X:100172707 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:100917716:AGA:A
                                  Gene:
                                  XKRX (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.001602/19 (ALFA)
                                  -=0.00001/1 (GnomAD)
                                  -=0.00009/1 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1491139012 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    CT>- [Show Flanks]
                                    Chromosome:
                                    X:100920171 (GRCh38)
                                    X:100175160 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:100920170:CT:
                                    Gene:
                                    XKRX (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0.011718/139 (ALFA)
                                    -=0.013699/3626 (TOPMED)
                                    -=0.015193/57 (1000Genomes)
                                    -=0.015752/1325 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1491111325 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->G [Show Flanks]
                                      Chromosome:
                                      X:100891761 (GRCh38)
                                      X:100146751 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:100891761:G:GG
                                      Gene:
                                      XKRX (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.00018/12 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1491080420 has merged into rs1556190722 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CG>-,CGCG [Show Flanks]
                                        Chromosome:
                                        X:100915709 (GRCh38)
                                        X:100170698 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:100915707:GCG:G,NC_000023.11:100915707:GCG:GCGCG
                                        Gene:
                                        XKRX (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GCGCG=0./0 (ALFA)
                                        -=0.00004/1 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1491068365 has merged into rs36011977 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
                                          Chromosome:
                                          X:100910596 (GRCh38)
                                          X:100165585 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:100910585:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:100910585:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:100910585:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:100910585:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:100910585:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:100910585:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:100910585:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:100910585:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
                                          Gene:
                                          XKRX (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AAAAAAAAAAAA=0./0 (ALFA)
                                          A=0.28212/1065 (1000Genomes)
                                          HGVS:

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