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Items: 1 to 20 of 14604

1.

rs1491572270 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AA>- [Show Flanks]
    Chromosome:
    17:27981079 (GRCh38)
    17:26308105 (GRCh37)
    Canonical SPDI:
    NC_000017.11:27981078:AA:
    Gene:
    LINC01992 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by cluster
    MAF:
    -=0.001063/128 (GnomAD)
    HGVS:
    2.

    rs1491564553 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AA>- [Show Flanks]
      Chromosome:
      17:27980022 (GRCh38)
      17:26307048 (GRCh37)
      Canonical SPDI:
      NC_000017.11:27980021:AA:
      Gene:
      LINC01992 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000015/2 (GnomAD)
      HGVS:
      3.

      rs1491535000 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->G [Show Flanks]
        Chromosome:
        17:27949735 (GRCh38)
        17:26276762 (GRCh37)
        Canonical SPDI:
        NC_000017.11:27949735::G
        Gene:
        LINC01992 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000026/3 (GnomAD)
        HGVS:
        4.

        rs1491456253 has merged into rs11324076 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
          Chromosome:
          17:27976146 (GRCh38)
          17:26303172 (GRCh37)
          Canonical SPDI:
          NC_000017.11:27976136:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:27976136:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:27976136:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:27976136:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:27976136:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:27976136:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:27976136:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
          Gene:
          LINC01992 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAA=0./0 (ALFA)
          HGVS:
          5.

          rs1491440741 has merged into rs796200567 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTT>-,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            17:27949743 (GRCh38)
            17:26276769 (GRCh37)
            Canonical SPDI:
            NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            LINC01992 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTTTTT=0./0 (ALFA)
            HGVS:
            NC_000017.11:g.27949743_27949751del, NC_000017.11:g.27949750_27949751del, NC_000017.11:g.27949751del, NC_000017.11:g.27949751dup, NC_000017.11:g.27949750_27949751dup, NC_000017.11:g.27949749_27949751dup, NC_000017.11:g.27949744_27949751dup, NC_000017.11:g.27949743_27949751dup, NC_000017.11:g.27949742_27949751dup, NC_000017.11:g.27949751_27949752insTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.27949751_27949752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.26276769_26276777del, NC_000017.10:g.26276776_26276777del, NC_000017.10:g.26276777del, NC_000017.10:g.26276777dup, NC_000017.10:g.26276776_26276777dup, NC_000017.10:g.26276775_26276777dup, NC_000017.10:g.26276770_26276777dup, NC_000017.10:g.26276769_26276777dup, NC_000017.10:g.26276768_26276777dup, NC_000017.10:g.26276777_26276778insTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.26276777_26276778insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            6.

            rs1491323096 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->GAG [Show Flanks]
              Chromosome:
              17:27981079 (GRCh38)
              17:26308106 (GRCh37)
              Canonical SPDI:
              NC_000017.11:27981079:AG:AGGAG
              Gene:
              LINC01992 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              AGGAG=0./0 (ALFA)
              HGVS:
              7.

              rs1491297597 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                17:27976136 (GRCh38)
                17:26303162 (GRCh37)
                Canonical SPDI:
                NC_000017.11:27976135:CA:
                Gene:
                LINC01992 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                HGVS:
                8.

                rs1491070342 has merged into rs71359234 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ATATATATATATATAT>-,ATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT [Show Flanks]
                  Chromosome:
                  17:27979874 (GRCh38)
                  17:26306900 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:27979872:TATATATATATATATAT:T,NC_000017.11:27979872:TATATATATATATATAT:TATATATAT,NC_000017.11:27979872:TATATATATATATATAT:TATATATATATAT,NC_000017.11:27979872:TATATATATATATATAT:TATATATATATATAT,NC_000017.11:27979872:TATATATATATATATAT:TATATATATATATATATAT,NC_000017.11:27979872:TATATATATATATATAT:TATATATATATATATATATAT,NC_000017.11:27979872:TATATATATATATATAT:TATATATATATATATATATATAT,NC_000017.11:27979872:TATATATATATATATAT:TATATATATATATATATATATATAT,NC_000017.11:27979872:TATATATATATATATAT:TATATATATATATATATATATATATATAT
                  Gene:
                  LINC01992 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TATATATATATAT=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490984089 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    17:27971822 (GRCh38)
                    17:26298848 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:27971821:T:C
                    Gene:
                    LINC01992 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000057/8 (GnomAD)
                    C=0.000132/35 (TOPMED)
                    C=0.000389/7 (TOMMO)
                    C=0.000625/4 (1000Genomes)
                    C=0.000685/2 (KOREAN)
                    C=0.001092/2 (Korea1K)
                    HGVS:
                    10.

                    rs1490900358 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      17:27956893 (GRCh38)
                      17:26283919 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:27956892:T:C
                      Gene:
                      LINC01992 (Varview), LOC124903962 (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:
                      11.

                      rs1490892124 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        17:27969408 (GRCh38)
                        17:26296434 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:27969407:C:T
                        Gene:
                        LINC01992 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000142/2 (ALFA)
                        T=0.000019/5 (TOPMED)
                        T=0.000029/4 (GnomAD)
                        HGVS:
                        12.

                        rs1490867938 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          17:27957897 (GRCh38)
                          17:26284923 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:27957896:C:G
                          Gene:
                          LINC01992 (Varview), LOC124903962 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1490867262 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            17:27983504 (GRCh38)
                            17:26310530 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:27983503:T:C
                            Gene:
                            LINC01992 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490846775 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              17:27972730 (GRCh38)
                              17:26299756 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:27972729:C:A,NC_000017.11:27972729:C:T
                              Gene:
                              LINC01992 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1490793460 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                17:27987111 (GRCh38)
                                17:26314137 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:27987110:T:C
                                Gene:
                                LINC01992 (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:
                                16.

                                rs1490789521 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->CTCCA [Show Flanks]
                                  Chromosome:
                                  17:27953876 (GRCh38)
                                  17:26280903 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:27953876::CTCCA
                                  Gene:
                                  LINC01992 (Varview), LOC124903962 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  CTCCA=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490769193 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:27956288 (GRCh38)
                                    17:26283314 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:27956287:G:A
                                    Gene:
                                    LINC01992 (Varview), LOC124903962 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490630646 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      17:27971445 (GRCh38)
                                      17:26298471 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:27971444:C:A
                                      Gene:
                                      LINC01992 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.0006/7 (ALFA)
                                      A=0.01248/198 (TOMMO)
                                      A=0.11745/342 (KOREAN)
                                      HGVS:
                                      19.

                                      rs1490627732 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        17:27986557 (GRCh38)
                                        17:26313583 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:27986556:T:C
                                        Gene:
                                        LINC01992 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000015/4 (TOPMED)
                                        C=0.000029/4 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490545701 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          17:27935468 (GRCh38)
                                          17:26262494 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:27935467:G:T
                                          Gene:
                                          LINC01992 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          HGVS:

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