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Items: 1 to 20 of 39768

1.

rs1491583420 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA [Show Flanks]
    Chromosome:
    3:123345761 (GRCh38)
    3:123064609 (GRCh37)
    Canonical SPDI:
    NC_000003.12:123345761:ACA:ACACA,NC_000003.12:123345761:ACA:ACACACA,NC_000003.12:123345761:ACA:ACACACACA,NC_000003.12:123345761:ACA:ACACACACACA,NC_000003.12:123345761:ACA:ACACACACACACA,NC_000003.12:123345761:ACA:ACACACACACACACA,NC_000003.12:123345761:ACA:ACACACACACACACACA,NC_000003.12:123345761:ACA:ACACACACACACACACACA,NC_000003.12:123345761:ACA:ACACACACACACACACACACA,NC_000003.12:123345761:ACA:ACACACACACACACACACACACA,NC_000003.12:123345761:ACA:ACACACACACACACACACACACACA,NC_000003.12:123345761:ACA:ACACACACACACACACACACACACACA,NC_000003.12:123345761:ACA:ACACACACACACACACACACACACACACA
    Gene:
    ADCY5 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ACACACA=0./0 (ALFA)
    HGVS:
    NC_000003.12:g.123345763_123345764dup, NC_000003.12:g.123345763CA[3], NC_000003.12:g.123345763CA[4], NC_000003.12:g.123345763CA[5], NC_000003.12:g.123345763CA[6], NC_000003.12:g.123345763CA[7], NC_000003.12:g.123345763CA[8], NC_000003.12:g.123345763CA[9], NC_000003.12:g.123345763CA[10], NC_000003.12:g.123345763CA[11], NC_000003.12:g.123345763CA[12], NC_000003.12:g.123345763CA[13], NC_000003.12:g.123345763CA[14], NC_000003.11:g.123064610_123064611dup, NC_000003.11:g.123064610CA[3], NC_000003.11:g.123064610CA[4], NC_000003.11:g.123064610CA[5], NC_000003.11:g.123064610CA[6], NC_000003.11:g.123064610CA[7], NC_000003.11:g.123064610CA[8], NC_000003.11:g.123064610CA[9], NC_000003.11:g.123064610CA[10], NC_000003.11:g.123064610CA[11], NC_000003.11:g.123064610CA[12], NC_000003.11:g.123064610CA[13], NC_000003.11:g.123064610CA[14], NG_033882.1:g.107783_107784dup, NG_033882.1:g.107783GT[3], NG_033882.1:g.107783GT[4], NG_033882.1:g.107783GT[5], NG_033882.1:g.107783GT[6], NG_033882.1:g.107783GT[7], NG_033882.1:g.107783GT[8], NG_033882.1:g.107783GT[9], NG_033882.1:g.107783GT[10], NG_033882.1:g.107783GT[11], NG_033882.1:g.107783GT[12], NG_033882.1:g.107783GT[13], NG_033882.1:g.107783GT[14]
    2.

    rs1491582034 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TG>- [Show Flanks]
      Chromosome:
      3:123308051 (GRCh38)
      3:123026898 (GRCh37)
      Canonical SPDI:
      NC_000003.12:123308050:TG:
      Gene:
      ADCY5 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000171/21 (GnomAD)
      HGVS:
      3.

      rs1491543049 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->A,T [Show Flanks]
        Chromosome:
        3:123396052 (GRCh38)
        3:123114900 (GRCh37)
        Canonical SPDI:
        NC_000003.12:123396052::A,NC_000003.12:123396052::T
        Gene:
        ADCY5 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by cluster
        MAF:
        A=0.00337/225 (GnomAD)
        A=0.00725/13 (Korea1K)
        HGVS:
        4.

        rs1491540554 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->AGAGAGAGAGGGAGGGAGAGAGAGAGGGAGGT,ATAGAGAGA [Show Flanks]
          Chromosome:
          3:123396062 (GRCh38)
          3:123114910 (GRCh37)
          Canonical SPDI:
          NC_000003.12:123396062::AGAGAGAGAGGGAGGGAGAGAGAGAGGGAGGT,NC_000003.12:123396062::ATAGAGAGA
          Gene:
          ADCY5 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by cluster
          MAF:
          AGAGAGAGAGGGAGGGAGAGAGAGAGGGAGGT=0.0001/1 (TOMMO)
          HGVS:
          5.

          rs1491500934 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            ->TTA
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1491480328 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->A,ATA,ATATA [Show Flanks]
              Chromosome:
              3:123452284 (GRCh38)
              3:123171132 (GRCh37)
              Canonical SPDI:
              NC_000003.12:123452284::A,NC_000003.12:123452284::ATA,NC_000003.12:123452284::ATATA
              Validated:
              by frequency,by cluster
              MAF:
              A=0.313916/5261 (TOMMO)
              A=0.348333/209 (NorthernSweden)
              A=0.394338/46483 (GnomAD)
              HGVS:
              7.

              rs1491478257 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GA>- [Show Flanks]
                Chromosome:
                3:123308848 (GRCh38)
                3:123027695 (GRCh37)
                Canonical SPDI:
                NC_000003.12:123308846:AGA:A
                Gene:
                ADCY5 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                -=0./0 (ALSPAC)
                -=0.000029/4 (GnomAD)
                -=0.000708/20 (TOMMO)
                -=0.030205/112 (TWINSUK)
                HGVS:
                8.

                rs1491443268 has merged into rs1491286966 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GA>- [Show Flanks]
                  Chromosome:
                  3:123345769 (GRCh38)
                  3:123064616 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:123345767:AGA:A
                  Gene:
                  ADCY5 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000369/6 (ALFA)
                  -=0.000037/5 (GnomAD)
                  -=0.000071/1 (TOMMO)
                  -=0.363808/1349 (TWINSUK)
                  -=0.38713/1492 (ALSPAC)
                  HGVS:
                  9.

                  rs1491441951 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->GC [Show Flanks]
                    Chromosome:
                    3:123346608 (GRCh38)
                    3:123065456 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:123346608:C:CGC
                    Gene:
                    ADCY5 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    CGC=0./0 (ALFA)
                    CG=0.02071/48 (GnomAD)
                    HGVS:
                    10.

                    rs1491425672 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      ->A
                      Chromosome:
                      no mapping
                      Canonical SPDI:
                      11.

                      rs1491376696 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GT>-,GTGT [Show Flanks]
                        Chromosome:
                        3:123426320 (GRCh38)
                        3:123145167 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:123426318:TGT:T,NC_000003.12:123426318:TGT:TGTGT
                        Gene:
                        ADCY5 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.01037/123 (ALFA)
                        -=0.00164/3 (Korea1K)
                        -=0.00187/12 (1000Genomes)
                        -=0.00221/37 (TOMMO)
                        -=0.00628/290 (GnomAD)
                        -=0.26618/987 (TWINSUK)
                        -=0.29683/1144 (ALSPAC)
                        HGVS:
                        12.

                        rs1491365881 has merged into rs1462540818 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAA>-,A [Show Flanks]
                          Chromosome:
                          3:123303838 (GRCh38)
                          3:123022685 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:123303836:AAAA:A,NC_000003.12:123303836:AAAA:AA
                          Gene:
                          ADCY5 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AA=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          -=0.000144/18 (GnomAD)
                          HGVS:
                          13.

                          rs1491286966 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GA>- [Show Flanks]
                            Chromosome:
                            3:123345769 (GRCh38)
                            3:123064616 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:123345767:AGA:A
                            Gene:
                            ADCY5 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000369/6 (ALFA)
                            -=0.000037/5 (GnomAD)
                            -=0.000071/1 (TOMMO)
                            -=0.363808/1349 (TWINSUK)
                            -=0.38713/1492 (ALSPAC)
                            HGVS:
                            14.

                            rs1491269386 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->AAA [Show Flanks]
                              Chromosome:
                              3:123395975 (GRCh38)
                              3:123114823 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:123395975::AAA
                              Gene:
                              ADCY5 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              AAA=0.000931/98 (GnomAD)
                              HGVS:
                              15.

                              rs1491253018 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GT>- [Show Flanks]
                                Chromosome:
                                3:123426310 (GRCh38)
                                3:123145157 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:123426308:TGT:T
                                Gene:
                                ADCY5 (Varview)
                                Functional Consequence:
                                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.00076/9 (ALFA)
                                -=0.00072/5 (TOMMO)
                                -=0.01777/21 (Korea1K)
                                -=0.32002/3165 (GnomAD)
                                HGVS:
                                16.

                                rs1491215777 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GG>- [Show Flanks]
                                  Chromosome:
                                  3:123396053 (GRCh38)
                                  3:123114900 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:123396051:GGG:G
                                  Gene:
                                  ADCY5 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  -=0.00006/1 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1491194011 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TG>- [Show Flanks]
                                    Chromosome:
                                    3:123396063 (GRCh38)
                                    3:123114910 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:123396061:GTG:G
                                    Gene:
                                    ADCY5 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.16127/1913 (ALFA)
                                    -=0.04527/855 (GnomAD)
                                    -=0.05276/571 (TOMMO)
                                    -=0.05914/22 (NorthernSweden)
                                    -=0.06965/84 (Korea1K)
                                    HGVS:
                                    18.

                                    rs1491192654 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACAGACACA,CACAGACACACA,CACAGACACACACA,CACAGACACACACACA,CACAGACACACACACACA,CACAGACACACACACACACA,CACAGACACACACACACACACA,CACAGACACACACACACACACACA,CACAGACACACACACACACACACACA,CACAGACACACACACACACACACACACA,CACAGACACACACACACACACACACACACA,CACAGACACACACATACACACACACA,CACAGACACACAGACACACA,CACAGACACACAGACACACACA,CACAGACACACAGACACACACACA,CACAGACACACAGACACACAGACACACACA,CACAGACACACAGACACACAGACACACACACA,CACAGACACACAGACACACAGACACACACACACA,CACAGACACAGACACACACACACACA,CACAGATACACACA [Show Flanks]
                                      Chromosome:
                                      3:123345765 (GRCh38)
                                      3:123064613 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:123345765:ACA:ACACA,NC_000003.12:123345765:ACA:ACACACA,NC_000003.12:123345765:ACA:ACACACACA,NC_000003.12:123345765:ACA:ACACACACACA,NC_000003.12:123345765:ACA:ACACACACACACA,NC_000003.12:123345765:ACA:ACACACACACACACA,NC_000003.12:123345765:ACA:ACACACACACACACACA,NC_000003.12:123345765:ACA:ACACACACACACACACACA,NC_000003.12:123345765:ACA:ACACACACACACACACACACA,NC_000003.12:123345765:ACA:ACACACACACACACACACACACA,NC_000003.12:123345765:ACA:ACACACACACACACACACACACACA,NC_000003.12:123345765:ACA:ACACACACACACACACACACACACACA,NC_000003.12:123345765:ACA:ACACACACACACACACACACACACACACA,NC_000003.12:123345765:ACA:ACACACACACACACACACACACACACACACACA,NC_000003.12:123345765:ACA:ACACACAGACACA,NC_000003.12:123345765:ACA:ACACACAGACACACA,NC_000003.12:123345765:ACA:ACACACAGACACACACA,NC_000003.12:123345765:ACA:ACACACAGACACACACACA,NC_000003.12:123345765:ACA:ACACACAGACACACACACACA,NC_000003.12:123345765:ACA:ACACACAGACACACACACACACA,NC_000003.12:123345765:ACA:ACACACAGACACACACACACACACA,NC_000003.12:123345765:ACA:ACACACAGACACACACACACACACACA,NC_000003.12:123345765:ACA:ACACACAGACACACACACACACACACACA,NC_000003.12:123345765:ACA:ACACACAGACACACACACACACACACACACA,NC_000003.12:123345765:ACA:ACACACAGACACACACACACACACACACACACA,NC_000003.12:123345765:ACA:ACACACAGACACACACATACACACACACA,NC_000003.12:123345765:ACA:ACACACAGACACACAGACACACA,NC_000003.12:123345765:ACA:ACACACAGACACACAGACACACACA,NC_000003.12:123345765:ACA:ACACACAGACACACAGACACACACACA,NC_000003.12:123345765:ACA:ACACACAGACACACAGACACACAGACACACACA,NC_000003.12:123345765:ACA:ACACACAGACACACAGACACACAGACACACACACA,NC_000003.12:123345765:ACA:ACACACAGACACACAGACACACAGACACACACACACA,NC_000003.12:123345765:ACA:ACACACAGACACAGACACACACACACACA,NC_000003.12:123345765:ACA:ACACACAGATACACACA
                                      Gene:
                                      ADCY5 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      ACACACACA=0./0 (ALFA)
                                      ACACACAGATACAC=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000003.12:g.123345767_123345768dup, NC_000003.12:g.123345767CA[3], NC_000003.12:g.123345767CA[4], NC_000003.12:g.123345767CA[5], NC_000003.12:g.123345767CA[6], NC_000003.12:g.123345767CA[7], NC_000003.12:g.123345767CA[8], NC_000003.12:g.123345767CA[9], NC_000003.12:g.123345767CA[10], NC_000003.12:g.123345767CA[11], NC_000003.12:g.123345767CA[12], NC_000003.12:g.123345767CA[13], NC_000003.12:g.123345767CA[14], NC_000003.12:g.123345767CA[16], NC_000003.12:g.123345766_123345768AC[3]AGACACA[1], NC_000003.12:g.123345766_123345768AC[3]AGACACACA[1], NC_000003.12:g.123345766_123345768AC[3]AGACACACACA[1], NC_000003.12:g.123345766_123345768AC[3]AGACACACACACA[1], NC_000003.12:g.123345766_123345768AC[3]AGACACACACACACA[1], NC_000003.12:g.123345766_123345768AC[3]AGACACACACACACACA[1], NC_000003.12:g.123345766_123345768AC[3]AGACACACACACACACACA[1], NC_000003.12:g.123345766_123345768AC[3]AGACACACACACACACACACA[1], NC_000003.12:g.123345766_123345768AC[3]AGACACACACACACACACACACA[1], NC_000003.12:g.123345766_123345768AC[3]AGACACACACACACACACACACACA[1], NC_000003.12:g.123345766_123345768AC[3]AGACACACACACACACACACACACACA[1], NC_000003.12:g.123345766_123345768AC[3]AGACACACACATACACACACACA[1], NC_000003.12:g.123345766_123345768ACACACAG[2]AC[3]A[1], NC_000003.12:g.123345766_123345768ACACACAG[2]AC[4]A[1], NC_000003.12:g.123345766_123345768ACACACAG[2]AC[5]A[1], NC_000003.12:g.123345766_123345768ACACACAG[3]AC[4]A[1], NC_000003.12:g.123345766_123345768ACACACAG[3]AC[5]A[1], NC_000003.12:g.123345766_123345768ACACACAG[3]AC[6]A[1], NC_000003.12:g.123345766_123345768AC[3]AGACAC[2]AC[5]A[1], NC_000003.12:g.123345766_123345768AC[3]AGATACACACA[1], NC_000003.11:g.123064614_123064615dup, NC_000003.11:g.123064614CA[3], NC_000003.11:g.123064614CA[4], NC_000003.11:g.123064614CA[5], NC_000003.11:g.123064614CA[6], NC_000003.11:g.123064614CA[7], NC_000003.11:g.123064614CA[8], NC_000003.11:g.123064614CA[9], NC_000003.11:g.123064614CA[10], NC_000003.11:g.123064614CA[11], NC_000003.11:g.123064614CA[12], NC_000003.11:g.123064614CA[13], NC_000003.11:g.123064614CA[14], NC_000003.11:g.123064614CA[16], NC_000003.11:g.123064613_123064615AC[3]AGACACA[1], NC_000003.11:g.123064613_123064615AC[3]AGACACACA[1], NC_000003.11:g.123064613_123064615AC[3]AGACACACACA[1], NC_000003.11:g.123064613_123064615AC[3]AGACACACACACA[1], NC_000003.11:g.123064613_123064615AC[3]AGACACACACACACA[1], NC_000003.11:g.123064613_123064615AC[3]AGACACACACACACACA[1], NC_000003.11:g.123064613_123064615AC[3]AGACACACACACACACACA[1], NC_000003.11:g.123064613_123064615AC[3]AGACACACACACACACACACA[1], NC_000003.11:g.123064613_123064615AC[3]AGACACACACACACACACACACA[1], NC_000003.11:g.123064613_123064615AC[3]AGACACACACACACACACACACACA[1], NC_000003.11:g.123064613_123064615AC[3]AGACACACACACACACACACACACACA[1], NC_000003.11:g.123064613_123064615AC[3]AGACACACACATACACACACACA[1], NC_000003.11:g.123064613_123064615ACACACAG[2]AC[3]A[1], NC_000003.11:g.123064613_123064615ACACACAG[2]AC[4]A[1], NC_000003.11:g.123064613_123064615ACACACAG[2]AC[5]A[1], NC_000003.11:g.123064613_123064615ACACACAG[3]AC[4]A[1], NC_000003.11:g.123064613_123064615ACACACAG[3]AC[5]A[1], NC_000003.11:g.123064613_123064615ACACACAG[3]AC[6]A[1], NC_000003.11:g.123064613_123064615AC[3]AGACAC[2]AC[5]A[1], NC_000003.11:g.123064613_123064615AC[3]AGATACACACA[1], NG_033882.1:g.107779_107780dup, NG_033882.1:g.107779GT[3], NG_033882.1:g.107779GT[4], NG_033882.1:g.107779GT[5], NG_033882.1:g.107779GT[6], NG_033882.1:g.107779GT[7], NG_033882.1:g.107779GT[8], NG_033882.1:g.107779GT[9], NG_033882.1:g.107779GT[10], NG_033882.1:g.107779GT[11], NG_033882.1:g.107779GT[12], NG_033882.1:g.107779GT[13], NG_033882.1:g.107779GT[14], NG_033882.1:g.107779GT[16], NG_033882.1:g.107778_107780TG[2]TCTGTGTGT[1], NG_033882.1:g.107778_107780TG[3]TCTGTGTGT[1], NG_033882.1:g.107778_107780TG[4]TCTGTGTGT[1], NG_033882.1:g.107778_107780TG[5]TCTGTGTGT[1], NG_033882.1:g.107778_107780TG[6]TCTGTGTGT[1], NG_033882.1:g.107778_107780TG[7]TCTGTGTGT[1], NG_033882.1:g.107778_107780TG[8]TCTGTGTGT[1], NG_033882.1:g.107778_107780TG[9]TCTGTGTGT[1], NG_033882.1:g.107778_107780TG[10]TCTGTGTGT[1], NG_033882.1:g.107778_107780TG[11]TCTGTGTGT[1], NG_033882.1:g.107778_107780TG[12]TCTGTGTGT[1], NG_033882.1:g.107778_107780TG[5]TATGTGTGTGTCTGTGTGT[1], NG_033882.1:g.107778_107780TGTGTGTC[2]TG[3]T[1], NG_033882.1:g.107778_107780TG[4]TCTGTGTG[2]T[1], NG_033882.1:g.107778_107780TG[5]TCTGTGTG[2]T[1], NG_033882.1:g.107778_107780TG[4]TCTGTGTG[3]T[1], NG_033882.1:g.107778_107780TG[5]TCTGTGTG[3]T[1], NG_033882.1:g.107778_107780TG[6]TCTGTGTG[3]T[1], NG_033882.1:g.107778_107780TG[7]TCTGTG[2]TGT[1], NG_033882.1:g.107778_107780TG[3]TATCTGTGTGT[1]
                                      19.

                                      rs1491192196 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        GG>- [Show Flanks]
                                        Chromosome:
                                        3:123395975 (GRCh38)
                                        3:123114822 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:123395974:GG:
                                        Gene:
                                        ADCY5 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        -=0.001093/7 (1000Genomes)
                                        -=0.001972/218 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1491167499 [Homo sapiens]
                                          Variant type:
                                          INS
                                          Alleles:
                                          ->G,GG [Show Flanks]
                                          Chromosome:
                                          3:123303837 (GRCh38)
                                          3:123022685 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:123303837::G,NC_000003.12:123303837::GG
                                          Gene:
                                          ADCY5 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          G=0.00011/3 (TOMMO)
                                          HGVS:

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