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Items: 1 to 20 of 8683

1.

rs1491371688 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AG>- [Show Flanks]
    Chromosome:
    15:86083206 (GRCh38)
    15:86626437 (GRCh37)
    Canonical SPDI:
    NC_000015.10:86083203:AGAG:AG
    Gene:
    AGBL1 (Varview), LINC01584 (Varview)
    Functional Consequence:
    intron_variant,downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AGAG=0./0 (ALFA)
    -=0.000007/1 (GnomAD)
    -=0.000015/4 (TOPMED)
    HGVS:
    2.

    rs1491320970 has merged into rs397854465 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      15:86095662 (GRCh38)
      15:86638893 (GRCh37)
      Canonical SPDI:
      NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      AGBL1 (Varview), LINC01584 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000015.10:g.86095662_86095675del, NC_000015.10:g.86095664_86095675del, NC_000015.10:g.86095665_86095675del, NC_000015.10:g.86095666_86095675del, NC_000015.10:g.86095669_86095675del, NC_000015.10:g.86095670_86095675del, NC_000015.10:g.86095673_86095675del, NC_000015.10:g.86095674_86095675del, NC_000015.10:g.86095675del, NC_000015.10:g.86095675dup, NC_000015.10:g.86095674_86095675dup, NC_000015.10:g.86095673_86095675dup, NC_000015.10:g.86095672_86095675dup, NC_000015.9:g.86638893_86638906del, NC_000015.9:g.86638895_86638906del, NC_000015.9:g.86638896_86638906del, NC_000015.9:g.86638897_86638906del, NC_000015.9:g.86638900_86638906del, NC_000015.9:g.86638901_86638906del, NC_000015.9:g.86638904_86638906del, NC_000015.9:g.86638905_86638906del, NC_000015.9:g.86638906del, NC_000015.9:g.86638906dup, NC_000015.9:g.86638905_86638906dup, NC_000015.9:g.86638904_86638906dup, NC_000015.9:g.86638903_86638906dup, NG_033836.2:g.20855_20868del, NG_033836.2:g.20857_20868del, NG_033836.2:g.20858_20868del, NG_033836.2:g.20859_20868del, NG_033836.2:g.20862_20868del, NG_033836.2:g.20863_20868del, NG_033836.2:g.20866_20868del, NG_033836.2:g.20867_20868del, NG_033836.2:g.20868del, NG_033836.2:g.20868dup, NG_033836.2:g.20867_20868dup, NG_033836.2:g.20866_20868dup, NG_033836.2:g.20865_20868dup
      3.

      rs1491151089 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CT>- [Show Flanks]
        Chromosome:
        15:86095647 (GRCh38)
        15:86638878 (GRCh37)
        Canonical SPDI:
        NC_000015.10:86095646:CT:
        Gene:
        AGBL1 (Varview), LINC01584 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.017788/211 (ALFA)
        -=0.011526/174 (TOMMO)
        -=0.016827/1817 (GnomAD)
        HGVS:
        4.

        rs1490949509 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          15:86094432 (GRCh38)
          15:86637663 (GRCh37)
          Canonical SPDI:
          NC_000015.10:86094431:T:A,NC_000015.10:86094431:T:C
          Gene:
          AGBL1 (Varview), LINC01584 (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)
          A=0.001027/3 (KOREAN)
          HGVS:
          5.

          rs1490786200 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            15:86105106 (GRCh38)
            15:86648337 (GRCh37)
            Canonical SPDI:
            NC_000015.10:86105105:T:C
            Gene:
            AGBL1 (Varview), LINC01584 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490485597 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              15:86112152 (GRCh38)
              15:86655383 (GRCh37)
              Canonical SPDI:
              NC_000015.10:86112151:A:G
              Gene:
              AGBL1 (Varview), LINC01584 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1490345430 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                A>- [Show Flanks]
                Chromosome:
                15:86092370 (GRCh38)
                15:86635601 (GRCh37)
                Canonical SPDI:
                NC_000015.10:86092369:A:
                Gene:
                AGBL1 (Varview), LINC01584 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490320485 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  15:86091418 (GRCh38)
                  15:86634649 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:86091417:C:T
                  Gene:
                  AGBL1 (Varview), LINC01584 (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:
                  9.

                  rs1490097551 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    15:86098103 (GRCh38)
                    15:86641334 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:86098102:A:G
                    Gene:
                    AGBL1 (Varview), LINC01584 (Varview)
                    Functional Consequence:
                    intron_variant
                    HGVS:
                    10.

                    rs1490038007 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      15:86094386 (GRCh38)
                      15:86637617 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:86094385:T:G
                      Gene:
                      AGBL1 (Varview), LINC01584 (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:
                      11.

                      rs1489996855 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G,T [Show Flanks]
                        Chromosome:
                        15:86112509 (GRCh38)
                        15:86655740 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:86112508:A:G,NC_000015.10:86112508:A:T
                        Gene:
                        AGBL1 (Varview), LINC01584 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        T=0.000035/1 (TOMMO)
                        HGVS:
                        12.

                        rs1489965123 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          15:86095935 (GRCh38)
                          15:86639166 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:86095934:T:C
                          Gene:
                          AGBL1 (Varview), LINC01584 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000034/9 (TOPMED)
                          HGVS:
                          13.

                          rs1489950443 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            15:86113232 (GRCh38)
                            15:86656463 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:86113231:C:G,NC_000015.10:86113231:C:T
                            Gene:
                            AGBL1 (Varview), LINC01584 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            G=0.00001/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489919304 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              15:86108430 (GRCh38)
                              15:86651661 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:86108429:A:G
                              Gene:
                              AGBL1 (Varview), LINC01584 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1489744893 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                15:86099748 (GRCh38)
                                15:86642979 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:86099747:G:C
                                Gene:
                                AGBL1 (Varview), LINC01584 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1489698114 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  15:86107118 (GRCh38)
                                  15:86650349 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:86107117:C:T
                                  Gene:
                                  AGBL1 (Varview), LINC01584 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489617354 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    15:86105865 (GRCh38)
                                    15:86649096 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:86105864:T:C
                                    Gene:
                                    AGBL1 (Varview), LINC01584 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    HGVS:
                                    18.

                                    rs1489507669 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      15:86103428 (GRCh38)
                                      15:86646659 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:86103427:C:T
                                      Gene:
                                      AGBL1 (Varview), LINC01584 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000015/4 (TOPMED)
                                      T=0.000029/4 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489472562 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        15:86090064 (GRCh38)
                                        15:86633295 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:86090063:T:C
                                        Gene:
                                        AGBL1 (Varview), LINC01584 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        C=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489436036 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          15:86103575 (GRCh38)
                                          15:86646806 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:86103574:G:C
                                          Gene:
                                          AGBL1 (Varview), LINC01584 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:

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