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Items: 1 to 20 of 145454

1.

rs1491584257 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CC>- [Show Flanks]
    Chromosome:
    10:1326825 (GRCh38)
    10:1369020 (GRCh37)
    Canonical SPDI:
    NC_000010.11:1326823:CCC:C
    Gene:
    ADARB2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by cluster
    MAF:
    -=0.000109/12 (GnomAD)
    -=0.000143/4 (TOMMO)
    HGVS:
    2.

    rs1491577764 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GG [Show Flanks]
      Chromosome:
      10:1337063 (GRCh38)
      10:1379259 (GRCh37)
      Canonical SPDI:
      NC_000010.11:1337063:G:GGG
      Gene:
      ADARB2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      GGG=0./0 (ALFA)
      HGVS:
      3.

      rs1491569291 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C,CG [Show Flanks]
        Chromosome:
        10:1640650 (GRCh38)
        10:1682846 (GRCh37)
        Canonical SPDI:
        NC_000010.11:1640650::C,NC_000010.11:1640650::CG
        Gene:
        ADARB2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000066/1 (ALFA)
        C=0.002249/314 (GnomAD)
        C=0.002342/15 (1000Genomes)
        HGVS:
        4.

        rs1491562497 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GT>- [Show Flanks]
          Chromosome:
          10:1514197 (GRCh38)
          10:1556392 (GRCh37)
          Canonical SPDI:
          NC_000010.11:1514195:TGT:T
          Gene:
          ADARB2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          -=0.000024/3 (GnomAD)
          HGVS:
          5.

          rs1491555217 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            10:1405629 (GRCh38)
            10:1447824 (GRCh37)
            Canonical SPDI:
            NC_000010.11:1405628:CA:
            Gene:
            ADARB2 (Varview), LOC124902364 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0.00211/25 (ALFA)
            HGVS:
            6.

            rs1491553152 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->C [Show Flanks]
              Chromosome:
              10:1329954 (GRCh38)
              10:1372150 (GRCh37)
              Canonical SPDI:
              NC_000010.11:1329954:C:CC
              Gene:
              ADARB2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CC=0./0 (ALFA)
              C=0.000035/1 (TOMMO)
              C=0.000057/6 (GnomAD)
              HGVS:
              7.

              rs1491541599 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->TA [Show Flanks]
                Chromosome:
                10:1375958 (GRCh38)
                10:1418154 (GRCh37)
                Canonical SPDI:
                NC_000010.11:1375958:A:ATA
                Gene:
                ADARB2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                ATA=0./0 (ALFA)
                HGVS:
                8.

                rs1491528126 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GG>-,GGG [Show Flanks]
                  Chromosome:
                  10:1293067 (GRCh38)
                  10:1335262 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:1293062:GGGGGG:GGGG,NC_000010.11:1293062:GGGGGG:GGGGGGG
                  Gene:
                  ADARB2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GGGGGGG=0./0 (ALFA)
                  G=0.00016/11 (GnomAD)
                  HGVS:
                  9.

                  rs1491524141 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TC>- [Show Flanks]
                    Chromosome:
                    10:1286200 (GRCh38)
                    10:1328395 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:1286196:CTCTC:CTC
                    Gene:
                    ADARB2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    CTC=0./0 (ALFA)
                    -=0.000008/2 (TOPMED)
                    -=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1491518445 has merged into rs1554767635 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->CTT,CTTTCTT [Show Flanks]
                      Chromosome:
                      10:1510169 (GRCh38)
                      10:1552365 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:1510169:TT:TTCTT,NC_000010.11:1510169:TT:TTCTTTCTT
                      Gene:
                      ADARB2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by cluster
                      HGVS:
                      11.

                      rs1491509741 has merged into rs200797624 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TTCTTTCT>-,TTCT,TTCTTTCTTTCT [Show Flanks]
                        Chromosome:
                        10:1510071 (GRCh38)
                        10:1552266 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:1510063:TCTTTCTTTCTTTCT:TCTTTCT,NC_000010.11:1510063:TCTTTCTTTCTTTCT:TCTTTCTTTCT,NC_000010.11:1510063:TCTTTCTTTCTTTCT:TCTTTCTTTCTTTCTTTCT
                        Gene:
                        ADARB2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TCTTTCTTTCT=0./0 (ALFA)
                        TCTT=0.000008/2 (TOPMED)
                        -=0.000546/1 (Korea1K)
                        HGVS:
                        12.

                        rs1491507617 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AT>- [Show Flanks]
                          Chromosome:
                          10:1332517 (GRCh38)
                          10:1374712 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:1332514:ATAT:AT
                          Gene:
                          ADARB2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          ATAT=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1491506091 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->AGGGAGAGAGGGAC,AGGGAGGGAGAGAGGGACAGGGAGAGAGGGAC [Show Flanks]
                            Chromosome:
                            10:1293230 (GRCh38)
                            10:1335426 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:1293230:AGGGAGAGAGGGAC:AGGGAGAGAGGGACAGGGAGAGAGGGAC,NC_000010.11:1293230:AGGGAGAGAGGGAC:AGGGAGAGAGGGACAGGGAGGGAGAGAGGGACAGGGAGAGAGGGAC
                            Gene:
                            ADARB2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AGGGAGAGAGGGACAGGGAGGGAGAGAGGGACAGGGAGAGAGGGAC=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1491505089 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->TG [Show Flanks]
                              Chromosome:
                              10:1375981 (GRCh38)
                              10:1418177 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:1375981::TG
                              Gene:
                              ADARB2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TG=0.000122/2 (ALFA)
                              TG=0.000011/3 (TOPMED)
                              TG=0.000022/3 (GnomAD)
                              HGVS:
                              15.

                              rs1491502624 has merged into rs1554770300 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
                                Chromosome:
                                10:1544976 (GRCh38)
                                10:1587171 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
                                Gene:
                                ADARB2 (Varview), ADARB2-AS1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                ACACACACACACACACACACA=0./0 (ALFA)
                                ACACACACACACACACAC=0.151/560 (TWINSUK)
                                ACACACACACACACACAC=0.1572/606 (ALSPAC)
                                HGVS:
                                NC_000010.11:g.1544958CA[9], NC_000010.11:g.1544958CA[10], NC_000010.11:g.1544958CA[11], NC_000010.11:g.1544958CA[12], NC_000010.11:g.1544958CA[13], NC_000010.11:g.1544958CA[15], NC_000010.11:g.1544958CA[16], NC_000010.11:g.1544958CA[17], NC_000010.11:g.1544958CA[18], NC_000010.11:g.1544958CA[19], NC_000010.11:g.1544958CA[20], NC_000010.11:g.1544958CA[21], NC_000010.11:g.1544958CA[22], NC_000010.11:g.1544958CA[23], NC_000010.11:g.1544958CA[24], NC_000010.11:g.1544958CA[25], NC_000010.11:g.1544958CA[26], NC_000010.11:g.1544958CA[27], NC_000010.11:g.1544958CA[28], NC_000010.11:g.1544958CA[29], NC_000010.11:g.1544958CA[30], NC_000010.11:g.1544958CA[31], NC_000010.11:g.1544958CA[32], NC_000010.11:g.1544958CA[34], NC_000010.10:g.1587153CA[9], NC_000010.10:g.1587153CA[10], NC_000010.10:g.1587153CA[11], NC_000010.10:g.1587153CA[12], NC_000010.10:g.1587153CA[13], NC_000010.10:g.1587153CA[15], NC_000010.10:g.1587153CA[16], NC_000010.10:g.1587153CA[17], NC_000010.10:g.1587153CA[18], NC_000010.10:g.1587153CA[19], NC_000010.10:g.1587153CA[20], NC_000010.10:g.1587153CA[21], NC_000010.10:g.1587153CA[22], NC_000010.10:g.1587153CA[23], NC_000010.10:g.1587153CA[24], NC_000010.10:g.1587153CA[25], NC_000010.10:g.1587153CA[26], NC_000010.10:g.1587153CA[27], NC_000010.10:g.1587153CA[28], NC_000010.10:g.1587153CA[29], NC_000010.10:g.1587153CA[30], NC_000010.10:g.1587153CA[31], NC_000010.10:g.1587153CA[32], NC_000010.10:g.1587153CA[34]
                                16.

                                rs1491498311 has merged into rs113613762 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AC>-,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC [Show Flanks]
                                  Chromosome:
                                  10:1591657 (GRCh38)
                                  10:1633852 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:1591655:CAC:C,NC_000010.11:1591655:CAC:CACAC,NC_000010.11:1591655:CAC:CACACAC,NC_000010.11:1591655:CAC:CACACACAC,NC_000010.11:1591655:CAC:CACACACACAC,NC_000010.11:1591655:CAC:CACACACACACAC,NC_000010.11:1591655:CAC:CACACACACACACAC
                                  Gene:
                                  ADARB2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CACACAC=0./0 (ALFA)
                                  CACA=0.2027/1015 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1491490324 has merged into rs1026242174 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ACAC>-,AC [Show Flanks]
                                    Chromosome:
                                    10:1375944 (GRCh38)
                                    10:1418139 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:1375939:ACACACAC:ACAC,NC_000010.11:1375939:ACACACAC:ACACAC
                                    Gene:
                                    ADARB2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    ACACAC=0./0 (ALFA)
                                    -=0.00004/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1491487496 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->GTTT [Show Flanks]
                                      Chromosome:
                                      10:1332482 (GRCh38)
                                      10:1374678 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:1332482:TTT:TTTGTTT
                                      Gene:
                                      ADARB2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      TTTGTTT=0./0 (ALFA)
                                      TTTG=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1491480396 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        CT>- [Show Flanks]
                                        Chromosome:
                                        10:1684335 (GRCh38)
                                        10:1726529 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:1684334:CT:
                                        Gene:
                                        ADARB2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1491471965 has merged into rs918855545 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TCTC>-,TC,TCTCTC [Show Flanks]
                                          Chromosome:
                                          10:1510058 (GRCh38)
                                          10:1552253 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:1510049:TCTCTCTCTCTC:TCTCTCTC,NC_000010.11:1510049:TCTCTCTCTCTC:TCTCTCTCTC,NC_000010.11:1510049:TCTCTCTCTCTC:TCTCTCTCTCTCTC
                                          Gene:
                                          ADARB2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TCTCTCTCTC=0./0 (ALFA)
                                          -=0.00164/3 (Korea1K)
                                          HGVS:

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