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Items: 1 to 20 of 23063

1.

rs1491583571 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TC>- [Show Flanks]
    Chromosome:
    1:26705451 (GRCh38)
    1:27031942 (GRCh37)
    Canonical SPDI:
    NC_000001.11:26705450:TC:
    Gene:
    ARID1A (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.000142/2 (ALFA)
    -=0.000314/83 (TOPMED)
    -=0.000339/46 (GnomAD)
    HGVS:
    2.

    rs1491562742 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CG>- [Show Flanks]
      Chromosome:
      1:26747035 (GRCh38)
      1:27073526 (GRCh37)
      Canonical SPDI:
      NC_000001.11:26747034:CG:
      Gene:
      ARID1A (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0./0 (TWINSUK)
      -=0.000011/3 (TOPMED)
      -=0.000259/1 (ALSPAC)
      HGVS:
      3.

      rs1491495373 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TT>- [Show Flanks]
        Chromosome:
        1:26720434 (GRCh38)
        1:27046925 (GRCh37)
        Canonical SPDI:
        NC_000001.11:26720433:TT:
        Gene:
        ARID1A (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.000008/2 (TOPMED)
        -=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1491472682 has merged into rs751639614 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          1:26707212 (GRCh38)
          1:27033703 (GRCh37)
          Canonical SPDI:
          NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:26707200:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          ARID1A (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTT=0./0 (ALFA)
          -=0.4/16 (GENOME_DK)
          HGVS:
          NC_000001.11:g.26707212_26707226del, NC_000001.11:g.26707213_26707226del, NC_000001.11:g.26707214_26707226del, NC_000001.11:g.26707215_26707226del, NC_000001.11:g.26707216_26707226del, NC_000001.11:g.26707217_26707226del, NC_000001.11:g.26707218_26707226del, NC_000001.11:g.26707219_26707226del, NC_000001.11:g.26707220_26707226del, NC_000001.11:g.26707221_26707226del, NC_000001.11:g.26707222_26707226del, NC_000001.11:g.26707223_26707226del, NC_000001.11:g.26707224_26707226del, NC_000001.11:g.26707225_26707226del, NC_000001.11:g.26707226del, NC_000001.11:g.26707226dup, NC_000001.11:g.26707225_26707226dup, NC_000001.11:g.26707224_26707226dup, NC_000001.11:g.26707223_26707226dup, NC_000001.11:g.26707222_26707226dup, NC_000001.11:g.26707221_26707226dup, NC_000001.10:g.27033703_27033717del, NC_000001.10:g.27033704_27033717del, NC_000001.10:g.27033705_27033717del, NC_000001.10:g.27033706_27033717del, NC_000001.10:g.27033707_27033717del, NC_000001.10:g.27033708_27033717del, NC_000001.10:g.27033709_27033717del, NC_000001.10:g.27033710_27033717del, NC_000001.10:g.27033711_27033717del, NC_000001.10:g.27033712_27033717del, NC_000001.10:g.27033713_27033717del, NC_000001.10:g.27033714_27033717del, NC_000001.10:g.27033715_27033717del, NC_000001.10:g.27033716_27033717del, NC_000001.10:g.27033717del, NC_000001.10:g.27033717dup, NC_000001.10:g.27033716_27033717dup, NC_000001.10:g.27033715_27033717dup, NC_000001.10:g.27033714_27033717dup, NC_000001.10:g.27033713_27033717dup, NC_000001.10:g.27033712_27033717dup, NG_029965.1:g.16182_16196del, NG_029965.1:g.16183_16196del, NG_029965.1:g.16184_16196del, NG_029965.1:g.16185_16196del, NG_029965.1:g.16186_16196del, NG_029965.1:g.16187_16196del, NG_029965.1:g.16188_16196del, NG_029965.1:g.16189_16196del, NG_029965.1:g.16190_16196del, NG_029965.1:g.16191_16196del, NG_029965.1:g.16192_16196del, NG_029965.1:g.16193_16196del, NG_029965.1:g.16194_16196del, NG_029965.1:g.16195_16196del, NG_029965.1:g.16196del, NG_029965.1:g.16196dup, NG_029965.1:g.16195_16196dup, NG_029965.1:g.16194_16196dup, NG_029965.1:g.16193_16196dup, NG_029965.1:g.16192_16196dup, NG_029965.1:g.16191_16196dup
          5.

          rs1491454742 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            1:26736628 (GRCh38)
            1:27063119 (GRCh37)
            Canonical SPDI:
            NC_000001.11:26736627:CA:
            Gene:
            ARID1A (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0.00008/1 (ALFA)
            HGVS:
            6.

            rs1491444857 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->G [Show Flanks]
              Chromosome:
              1:26720434 (GRCh38)
              1:27046926 (GRCh37)
              Canonical SPDI:
              NC_000001.11:26720434::G
              Gene:
              ARID1A (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1491421314 has merged into rs3841356 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CC>-,C,CCC,CCCC [Show Flanks]
                Chromosome:
                1:26780780 (GRCh38)
                1:27107271 (GRCh37)
                Canonical SPDI:
                NC_000001.11:26780772:CCCCCCCCC:CCCCCCC,NC_000001.11:26780772:CCCCCCCCC:CCCCCCCC,NC_000001.11:26780772:CCCCCCCCC:CCCCCCCCCC,NC_000001.11:26780772:CCCCCCCCC:CCCCCCCCCCC
                Gene:
                ARID1A (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Clinical significance:
                benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CCCCCCC=0.00004/1 (ALFA)
                C=0.04093/205 (1000Genomes)
                C=0.06875/308 (Estonian)
                C=0.07213/278 (ALSPAC)
                C=0.08387/311 (TWINSUK)
                C=0.08417/84 (GoNL)
                C=0.09167/55 (NorthernSweden)
                HGVS:
                NC_000001.11:g.26780780_26780781del, NC_000001.11:g.26780781del, NC_000001.11:g.26780781dup, NC_000001.11:g.26780780_26780781dup, NC_000001.10:g.27107271_27107272del, NC_000001.10:g.27107272del, NC_000001.10:g.27107272dup, NC_000001.10:g.27107271_27107272dup, NG_029965.1:g.89750_89751del, NG_029965.1:g.89751del, NG_029965.1:g.89751dup, NG_029965.1:g.89750_89751dup, NM_006015.6:c.*24_*25del, NM_006015.6:c.*25del, NM_006015.6:c.*25dup, NM_006015.6:c.*24_*25dup, NM_006015.5:c.*24_*25del, NM_006015.5:c.*25del, NM_006015.5:c.*25dup, NM_006015.5:c.*24_*25dup, NM_006015.4:c.*24_*25del, NM_006015.4:c.*25del, NM_006015.4:c.*25dup, NM_006015.4:c.*24_*25dup, NM_139135.4:c.*24_*25del, NM_139135.4:c.*25del, NM_139135.4:c.*25dup, NM_139135.4:c.*24_*25dup, NM_139135.3:c.*24_*25del, NM_139135.3:c.*25del, NM_139135.3:c.*25dup, NM_139135.3:c.*24_*25dup, NM_139135.2:c.*24_*25del, NM_139135.2:c.*25del, NM_139135.2:c.*25dup, NM_139135.2:c.*24_*25dup, NM_018450.4:c.*1865_*1866del, NM_018450.4:c.*1866del, NM_018450.4:c.*1866dup, NM_018450.4:c.*1865_*1866dup, NM_018450.3:c.*52_*53del, NM_018450.3:c.*53del, NM_018450.3:c.*53dup, NM_018450.3:c.*52_*53dup, NM_018450.2:c.*24_*25del, NM_018450.2:c.*25del, NM_018450.2:c.*25dup, NM_018450.2:c.*24_*25dup, NM_018450.1:c.*52_*53del, NM_018450.1:c.*53del, NM_018450.1:c.*53dup, NM_018450.1:c.*52_*53dup
                8.

                rs1491399260 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CG>- [Show Flanks]
                  Chromosome:
                  1:26780781 (GRCh38)
                  1:27107272 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:26780780:CG:
                  Gene:
                  ARID1A (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000005/1 (GnomAD_exomes)
                  -=0.000009/1 (ExAC)
                  HGVS:
                  9.

                  rs1491362735 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->A [Show Flanks]
                    Chromosome:
                    1:26735141 (GRCh38)
                    1:27061633 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:26735141:A:AA
                    Gene:
                    ARID1A (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AA=0./0 (ALFA)
                    A=0.000035/1 (TOMMO)
                    A=0.000124/17 (GnomAD)
                    HGVS:
                    10.

                    rs1491286689 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AG>- [Show Flanks]
                      Chromosome:
                      1:26735148 (GRCh38)
                      1:27061639 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:26735140:GAGAGAGAG:GAGAGAG
                      Gene:
                      ARID1A (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      GAGAGAG=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1491211281 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->T [Show Flanks]
                        Chromosome:
                        1:26778086 (GRCh38)
                        1:27104578 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:26778086::T
                        Gene:
                        ARID1A (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1491210266 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->A [Show Flanks]
                          Chromosome:
                          1:26707201 (GRCh38)
                          1:27033693 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:26707201::A
                          Gene:
                          ARID1A (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.00001/1 (GnomAD)
                          A=0.00021/3 (TOMMO)
                          HGVS:
                          13.

                          rs1491112661 has merged into rs71007890 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
                            Chromosome:
                            1:26736642 (GRCh38)
                            1:27063133 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:26736628:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:26736628:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:26736628:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:26736628:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:26736628:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:26736628:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:26736628:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:26736628:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:26736628:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:26736628:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
                            Gene:
                            ARID1A (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAAAAAAA=0./0 (ALFA)
                            -=0.0215/9 (NorthernSweden)
                            -=0.0569/285 (1000Genomes)
                            -=0.1022/394 (ALSPAC)
                            -=0.1133/420 (TWINSUK)
                            HGVS:
                            NC_000001.11:g.26736642_26736646del, NC_000001.11:g.26736643_26736646del, NC_000001.11:g.26736644_26736646del, NC_000001.11:g.26736645_26736646del, NC_000001.11:g.26736646del, NC_000001.11:g.26736646dup, NC_000001.11:g.26736645_26736646dup, NC_000001.11:g.26736644_26736646dup, NC_000001.11:g.26736643_26736646dup, NC_000001.11:g.26736642_26736646dup, NC_000001.10:g.27063133_27063137del, NC_000001.10:g.27063134_27063137del, NC_000001.10:g.27063135_27063137del, NC_000001.10:g.27063136_27063137del, NC_000001.10:g.27063137del, NC_000001.10:g.27063137dup, NC_000001.10:g.27063136_27063137dup, NC_000001.10:g.27063135_27063137dup, NC_000001.10:g.27063134_27063137dup, NC_000001.10:g.27063133_27063137dup, NG_029965.1:g.45612_45616del, NG_029965.1:g.45613_45616del, NG_029965.1:g.45614_45616del, NG_029965.1:g.45615_45616del, NG_029965.1:g.45616del, NG_029965.1:g.45616dup, NG_029965.1:g.45615_45616dup, NG_029965.1:g.45614_45616dup, NG_029965.1:g.45613_45616dup, NG_029965.1:g.45612_45616dup
                            14.

                            rs1491045305 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AT>- [Show Flanks]
                              Chromosome:
                              1:26733269 (GRCh38)
                              1:27059760 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:26733267:TAT:T
                              Gene:
                              ARID1A (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1491004235 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:26756316 (GRCh38)
                                1:27082807 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:26756315:G:A
                                Gene:
                                ARID1A (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490998945 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:26717660 (GRCh38)
                                  1:27044151 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:26717659:A:G
                                  Gene:
                                  ARID1A (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490997426 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    1:26783781 (GRCh38)
                                    1:27110272 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:26783780:A:G
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490962312 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:26709823 (GRCh38)
                                      1:27036314 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:26709822:C:T
                                      Gene:
                                      ARID1A (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000389/7 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1490953798 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:26768295 (GRCh38)
                                        1:27094786 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:26768294:G:A
                                        Gene:
                                        ARID1A (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490909534 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:26732528 (GRCh38)
                                          1:27059019 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:26732527:G:A
                                          Gene:
                                          ARID1A (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:

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