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Items: 1 to 20 of 7252

1.

rs1491562242 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TA>- [Show Flanks]
    Chromosome:
    19:17060225 (GRCh38)
    19:17171035 (GRCh37)
    Canonical SPDI:
    NC_000019.10:17060224:TA:
    Gene:
    HAUS8 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491412053 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->C
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1491369554 has merged into rs35562523 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
        Chromosome:
        19:17060240 (GRCh38)
        19:17171050 (GRCh37)
        Canonical SPDI:
        NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        HAUS8 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAAAAAAA=0./0 (ALFA)
        HGVS:
        4.

        rs1491358150 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CT>- [Show Flanks]
          Chromosome:
          19:17068099 (GRCh38)
          19:17178909 (GRCh37)
          Canonical SPDI:
          NC_000019.10:17068097:TCT:T
          Gene:
          HAUS8 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0.000084/1 (ALFA)
          -=0.000066/9 (GnomAD)
          HGVS:
          5.

          rs1491274170 has merged into rs11315045 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            19:17055350 (GRCh38)
            19:17166160 (GRCh37)
            Canonical SPDI:
            NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            HAUS8 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAA=0./0 (ALFA)
            HGVS:
            NC_000019.10:g.17055350_17055362del, NC_000019.10:g.17055351_17055362del, NC_000019.10:g.17055352_17055362del, NC_000019.10:g.17055353_17055362del, NC_000019.10:g.17055354_17055362del, NC_000019.10:g.17055355_17055362del, NC_000019.10:g.17055357_17055362del, NC_000019.10:g.17055358_17055362del, NC_000019.10:g.17055359_17055362del, NC_000019.10:g.17055360_17055362del, NC_000019.10:g.17055361_17055362del, NC_000019.10:g.17055362del, NC_000019.10:g.17055362dup, NC_000019.10:g.17055361_17055362dup, NC_000019.10:g.17055360_17055362dup, NC_000019.10:g.17055359_17055362dup, NC_000019.10:g.17055358_17055362dup, NC_000019.10:g.17055357_17055362dup, NC_000019.10:g.17055356_17055362dup, NC_000019.10:g.17055355_17055362dup, NC_000019.10:g.17055349_17055362dup, NC_000019.9:g.17166160_17166172del, NC_000019.9:g.17166161_17166172del, NC_000019.9:g.17166162_17166172del, NC_000019.9:g.17166163_17166172del, NC_000019.9:g.17166164_17166172del, NC_000019.9:g.17166165_17166172del, NC_000019.9:g.17166167_17166172del, NC_000019.9:g.17166168_17166172del, NC_000019.9:g.17166169_17166172del, NC_000019.9:g.17166170_17166172del, NC_000019.9:g.17166171_17166172del, NC_000019.9:g.17166172del, NC_000019.9:g.17166172dup, NC_000019.9:g.17166171_17166172dup, NC_000019.9:g.17166170_17166172dup, NC_000019.9:g.17166169_17166172dup, NC_000019.9:g.17166168_17166172dup, NC_000019.9:g.17166167_17166172dup, NC_000019.9:g.17166166_17166172dup, NC_000019.9:g.17166165_17166172dup, NC_000019.9:g.17166159_17166172dup
            6.

            rs1491227890 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              19:17055339 (GRCh38)
              19:17166149 (GRCh37)
              Canonical SPDI:
              NC_000019.10:17055338:CA:
              Gene:
              HAUS8 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              HGVS:
              7.

              rs1491103600 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CT>- [Show Flanks]
                Chromosome:
                19:17072338 (GRCh38)
                19:17183148 (GRCh37)
                Canonical SPDI:
                NC_000019.10:17072337:CT:
                Gene:
                HAUS8 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                -=0.000094/11 (GnomAD)
                HGVS:
                8.

                rs1491068555 has merged into rs61226830 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
                  Chromosome:
                  19:17065984 (GRCh38)
                  19:17176794 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:17065972:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:17065972:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:17065972:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:17065972:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:17065972:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:17065972:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
                  Gene:
                  HAUS8 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAA=0./0 (ALFA)
                  A=0.3956/1981 (1000Genomes)
                  HGVS:
                  9.

                  rs1490950563 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    19:17056708 (GRCh38)
                    19:17167518 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:17056707:A:G
                    Gene:
                    HAUS8 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490784530 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      19:17071416 (GRCh38)
                      19:17182226 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:17071415:T:C
                      Gene:
                      HAUS8 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1490689702 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        19:17060104 (GRCh38)
                        19:17170914 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:17060103:A:T
                        Gene:
                        HAUS8 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1490662164 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          19:17064880 (GRCh38)
                          19:17175690 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:17064879:C:T
                          Gene:
                          HAUS8 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490613877 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            19:17055673 (GRCh38)
                            19:17166483 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:17055672:A:G
                            Gene:
                            HAUS8 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1490476796 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              19:17072927 (GRCh38)
                              19:17183737 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:17072926:G:A,NC_000019.10:17072926:G:C
                              Gene:
                              HAUS8 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1490336463 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                19:17063872 (GRCh38)
                                19:17174682 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:17063871:A:T
                                Gene:
                                HAUS8 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490227321 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  19:17051146 (GRCh38)
                                  19:17161956 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:17051145:G:A
                                  Gene:
                                  HAUS8 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490223941 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    19:17064913 (GRCh38)
                                    19:17175723 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:17064912:A:G
                                    Gene:
                                    HAUS8 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490205871 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      19:17071088 (GRCh38)
                                      19:17181898 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:17071087:T:G
                                      Gene:
                                      HAUS8 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.011/32 (KOREAN)
                                      HGVS:
                                      19.

                                      rs1489939564 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        19:17057287 (GRCh38)
                                        19:17168097 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:17057286:T:C
                                        Gene:
                                        HAUS8 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489845550 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          19:17064358 (GRCh38)
                                          19:17175168 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:17064357:T:G
                                          Gene:
                                          HAUS8 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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