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Items: 1 to 20 of 79120

1.

rs1491582306 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    X:113175109 (GRCh38)
    X:112418337 (GRCh37)
    Canonical SPDI:
    NC_000023.11:113175109::T
    Gene:
    LOC101928437 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    2.

    rs1491568315 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TG>- [Show Flanks]
      Chromosome:
      X:113103134 (GRCh38)
      X:112346362 (GRCh37)
      Canonical SPDI:
      NC_000023.11:113103133:TG:
      Gene:
      LOC101928437 (Varview)
      Functional Consequence:
      intron_variant
      HGVS:
      3.

      rs1491561252 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->TTTTTTTTTTTTTGTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        X:113248421 (GRCh38)
        X:112491649 (GRCh37)
        Canonical SPDI:
        NC_000023.11:113248421:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTT
        Gene:
        LOC101928437 (Varview)
        Functional Consequence:
        intron_variant
        HGVS:
        4.

        rs1491539469 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->CCTC [Show Flanks]
          Chromosome:
          X:113133823 (GRCh38)
          X:112377052 (GRCh37)
          Canonical SPDI:
          NC_000023.11:113133823:CTC:CTCCCTC
          Gene:
          LOC101928437 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency
          MAF:
          CTCC=0.0009/1 (GnomAD)
          HGVS:
          5.

          rs1491530053 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            X:113463145 (GRCh38)
            X:112706406 (GRCh37)
            Canonical SPDI:
            NC_000023.11:113463144:CA:
            Gene:
            LOC101928437 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0.0091/108 (ALFA)
            HGVS:
            6.

            rs1491526433 has merged into rs58824230 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              X:113307741 (GRCh38)
              X:112550968 (GRCh37)
              Canonical SPDI:
              NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              LOC101928437 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAAAAAAA=0.0006/4 (ALFA)
              A=0.2283/862 (1000Genomes)
              -=0.411/1524 (TWINSUK)
              -=0.425/17 (GENOME_DK)
              -=0.4251/1228 (ALSPAC)
              HGVS:
              NC_000023.11:g.113307741_113307746del, NC_000023.11:g.113307745_113307746del, NC_000023.11:g.113307746del, NC_000023.11:g.113307746dup, NC_000023.11:g.113307745_113307746dup, NC_000023.11:g.113307744_113307746dup, NC_000023.11:g.113307743_113307746dup, NC_000023.11:g.113307742_113307746dup, NC_000023.11:g.113307741_113307746dup, NC_000023.11:g.113307739_113307746dup, NC_000023.11:g.113307737_113307746dup, NC_000023.11:g.113307735_113307746dup, NC_000023.10:g.112550968_112550973del, NC_000023.10:g.112550972_112550973del, NC_000023.10:g.112550973del, NC_000023.10:g.112550973dup, NC_000023.10:g.112550972_112550973dup, NC_000023.10:g.112550971_112550973dup, NC_000023.10:g.112550970_112550973dup, NC_000023.10:g.112550969_112550973dup, NC_000023.10:g.112550968_112550973dup, NC_000023.10:g.112550966_112550973dup, NC_000023.10:g.112550964_112550973dup, NC_000023.10:g.112550962_112550973dup
              7.

              rs1491525467 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                X:113276518 (GRCh38)
                X:112519745 (GRCh37)
                Canonical SPDI:
                NC_000023.11:113276517:CA:
                Gene:
                LOC101928437 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0.00034/4 (ALFA)
                HGVS:
                8.

                rs1491523374 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AA>-,A [Show Flanks]
                  Chromosome:
                  X:113297481 (GRCh38)
                  X:112540708 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:113297479:AAA:A,NC_000023.11:113297479:AAA:AA
                  Gene:
                  LOC101928437 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.0011/18 (ALFA)
                  -=0.00106/4 (1000Genomes)
                  -=0.00436/432 (GnomAD)
                  HGVS:
                  9.

                  rs1491490527 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AT>- [Show Flanks]
                    Chromosome:
                    X:113173072 (GRCh38)
                    X:112416299 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:113173063:ATATATATAT:ATATATAT
                    Gene:
                    LOC101928437 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    ATATATAT=0.00126/15 (ALFA)
                    HGVS:
                    10.

                    rs1491487924 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->CTTTTTTT [Show Flanks]
                      Chromosome:
                      X:113169248 (GRCh38)
                      X:112412476 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:113169248:TTTTTTT:TTTTTTTCTTTTTTT
                      Gene:
                      LOC101928437 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TTTTTTTCTTTTTTT=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1491487374 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        X:113273246 (GRCh38)
                        X:112516473 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:113273245:CA:
                        Gene:
                        LOC101928437 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0.01197/142 (ALFA)
                        -=0.00125/20 (GnomAD)
                        -=0.00451/100 (TOMMO)
                        HGVS:
                        12.

                        rs1491478768 has merged into rs1159455878 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TA>-,TATA,TATATA [Show Flanks]
                          Chromosome:
                          X:113438349 (GRCh38)
                          X:112681604 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:113438339:ATATATATATA:ATATATATA,NC_000023.11:113438339:ATATATATATA:ATATATATATATA,NC_000023.11:113438339:ATATATATATA:ATATATATATATATA
                          Gene:
                          LOC101928437 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          ATATATATATATATA=0./0 (ALFA)
                          AT=0.00005/1 (TOMMO)
                          HGVS:
                          13.

                          rs1491473535 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->G [Show Flanks]
                            Chromosome:
                            X:113103095 (GRCh38)
                            X:112346324 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:113103095:G:GG
                            Gene:
                            LOC101928437 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            GG=0./0 (ALFA)
                            G=0.00009/9 (GnomAD)
                            HGVS:
                            14.

                            rs1491473439 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              GG>- [Show Flanks]
                              Chromosome:
                              X:113046249 (GRCh38)
                              X:112289477 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:113046248:GG:
                              Gene:
                              LOC101928437 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0./0 (ALFA)
                              -=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1491455081 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CT>- [Show Flanks]
                                Chromosome:
                                X:113413692 (GRCh38)
                                X:112656919 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:113413691:CT:
                                Gene:
                                LOC101928437 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1491450557 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->AATATATATATTATATATAT [Show Flanks]
                                  Chromosome:
                                  X:113438340 (GRCh38)
                                  X:112681596 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:113438340:TATATATATAATATATATATTATATATAT:TATATATATAATATATATATTATATATATAATATATATATTATATATAT
                                  Gene:
                                  LOC101928437 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TATATATATAATATATATATTATATATATAATATATATATTATATATAT=0.00008/1 (ALFA)
                                  TATATATATAATATATATAT=0.00378/340 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1491431213 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->CGTATATA [Show Flanks]
                                    Chromosome:
                                    X:113093784 (GRCh38)
                                    X:112337013 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:113093784:GTATATA:GTATATACGTATATA
                                    Gene:
                                    LOC101928437 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    GTATATACGTATATA=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1491426606 has merged into rs34928584 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TTTTTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                      Chromosome:
                                      X:113068126 (GRCh38)
                                      X:112311354 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                      Gene:
                                      LOC101928437 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTTTTTTTTTT=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000023.11:g.113068126_113068139del, NC_000023.11:g.113068127_113068139del, NC_000023.11:g.113068130_113068139del, NC_000023.11:g.113068131_113068139del, NC_000023.11:g.113068132_113068139del, NC_000023.11:g.113068133_113068139del, NC_000023.11:g.113068134_113068139del, NC_000023.11:g.113068135_113068139del, NC_000023.11:g.113068136_113068139del, NC_000023.11:g.113068137_113068139del, NC_000023.11:g.113068138_113068139del, NC_000023.11:g.113068139del, NC_000023.11:g.113068139dup, NC_000023.11:g.113068138_113068139dup, NC_000023.11:g.113068137_113068139dup, NC_000023.11:g.113068135_113068139dup, NC_000023.11:g.113068134_113068139dup, NC_000023.11:g.113068133_113068139dup, NC_000023.11:g.113068126_113068139dup, NC_000023.10:g.112311354_112311367del, NC_000023.10:g.112311355_112311367del, NC_000023.10:g.112311358_112311367del, NC_000023.10:g.112311359_112311367del, NC_000023.10:g.112311360_112311367del, NC_000023.10:g.112311361_112311367del, NC_000023.10:g.112311362_112311367del, NC_000023.10:g.112311363_112311367del, NC_000023.10:g.112311364_112311367del, NC_000023.10:g.112311365_112311367del, NC_000023.10:g.112311366_112311367del, NC_000023.10:g.112311367del, NC_000023.10:g.112311367dup, NC_000023.10:g.112311366_112311367dup, NC_000023.10:g.112311365_112311367dup, NC_000023.10:g.112311363_112311367dup, NC_000023.10:g.112311362_112311367dup, NC_000023.10:g.112311361_112311367dup, NC_000023.10:g.112311354_112311367dup
                                      19.

                                      rs1491400555 has merged into rs111692853 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TT>-,T,TTT [Show Flanks]
                                        Chromosome:
                                        X:113390125 (GRCh38)
                                        X:112633352 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:113390114:TTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:113390114:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:113390114:TTTTTTTTTTTT:TTTTTTTTTTTTT
                                        Gene:
                                        LOC101928437 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTTTTTTTTTTT=0./0 (ALFA)
                                        -=0.4/16 (GENOME_DK)
                                        -=0.427455/113143 (TOPMED)
                                        -=0.430253/1243 (ALSPAC)
                                        -=0.45658/1693 (TWINSUK)
                                        -=0.481589/1818 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs1491399533 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          TG>- [Show Flanks]
                                          Chromosome:
                                          X:113215230 (GRCh38)
                                          X:112458457 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:113215229:TG:
                                          Gene:
                                          LOC101928437 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          -=0.00025/3 (ALFA)
                                          HGVS:

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