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Items: 1 to 20 of 5010

1.

rs1491560587 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    12:98487973 (GRCh38)
    12:98881751 (GRCh37)
    Canonical SPDI:
    NC_000012.12:98487972:CA:
    Gene:
    LINC02453 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00051/6 (ALFA)
    HGVS:
    2.

    rs1491478419 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->CCCA,CCCCA,CCCCCA,CCCCCCA,CCCCCCCA [Show Flanks]
      Chromosome:
      12:98502840 (GRCh38)
      12:98896619 (GRCh37)
      Canonical SPDI:
      NC_000012.12:98502840::CCCA,NC_000012.12:98502840::CCCCA,NC_000012.12:98502840::CCCCCA,NC_000012.12:98502840::CCCCCCA,NC_000012.12:98502840::CCCCCCCA
      Gene:
      LINC02453 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CCCCA=0./0 (ALFA)
      HGVS:
      3.

      rs1491448990 has merged into rs1555200576 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ACACACAC>-,ACAC,ACACAC,ACACACACAC,ACACACACACAC [Show Flanks]
        Chromosome:
        12:98502849 (GRCh38)
        12:98896627 (GRCh37)
        Canonical SPDI:
        NC_000012.12:98502839:CACACACACACACACAC:CACACACAC,NC_000012.12:98502839:CACACACACACACACAC:CACACACACACAC,NC_000012.12:98502839:CACACACACACACACAC:CACACACACACACAC,NC_000012.12:98502839:CACACACACACACACAC:CACACACACACACACACAC,NC_000012.12:98502839:CACACACACACACACAC:CACACACACACACACACACAC
        Gene:
        LINC02453 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CACACACACACACACACAC=0./0 (ALFA)
        CA=0.00201/20 (TOMMO)
        CA=0.0076/13 (Korea1K)
        HGVS:
        4.

        rs1491441586 has merged into rs34178925 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          12:98486791 (GRCh38)
          12:98880569 (GRCh37)
          Canonical SPDI:
          NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          LINC02453 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAA=0./0 (ALFA)
          AAAAAAA=0.075/3 (GENOME_DK)
          HGVS:
          NC_000012.12:g.98486791_98486802del, NC_000012.12:g.98486792_98486802del, NC_000012.12:g.98486793_98486802del, NC_000012.12:g.98486794_98486802del, NC_000012.12:g.98486796_98486802del, NC_000012.12:g.98486800_98486802del, NC_000012.12:g.98486801_98486802del, NC_000012.12:g.98486802del, NC_000012.12:g.98486802dup, NC_000012.12:g.98486801_98486802dup, NC_000012.12:g.98486800_98486802dup, NC_000012.12:g.98486799_98486802dup, NC_000012.12:g.98486797_98486802dup, NC_000012.12:g.98486796_98486802dup, NC_000012.12:g.98486795_98486802dup, NC_000012.12:g.98486791_98486802dup, NC_000012.12:g.98486790_98486802dup, NC_000012.12:g.98486789_98486802dup, NC_000012.12:g.98486782_98486802dup, NC_000012.12:g.98486802_98486803insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.98880569_98880580del, NC_000012.11:g.98880570_98880580del, NC_000012.11:g.98880571_98880580del, NC_000012.11:g.98880572_98880580del, NC_000012.11:g.98880574_98880580del, NC_000012.11:g.98880578_98880580del, NC_000012.11:g.98880579_98880580del, NC_000012.11:g.98880580del, NC_000012.11:g.98880580dup, NC_000012.11:g.98880579_98880580dup, NC_000012.11:g.98880578_98880580dup, NC_000012.11:g.98880577_98880580dup, NC_000012.11:g.98880575_98880580dup, NC_000012.11:g.98880574_98880580dup, NC_000012.11:g.98880573_98880580dup, NC_000012.11:g.98880569_98880580dup, NC_000012.11:g.98880568_98880580dup, NC_000012.11:g.98880567_98880580dup, NC_000012.11:g.98880560_98880580dup, NC_000012.11:g.98880580_98880581insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_038383.1:n.578_589del, NR_038383.1:n.579_589del, NR_038383.1:n.580_589del, NR_038383.1:n.581_589del, NR_038383.1:n.583_589del, NR_038383.1:n.587_589del, NR_038383.1:n.588_589del, NR_038383.1:n.589del, NR_038383.1:n.589dup, NR_038383.1:n.588_589dup, NR_038383.1:n.587_589dup, NR_038383.1:n.586_589dup, NR_038383.1:n.584_589dup, NR_038383.1:n.583_589dup, NR_038383.1:n.582_589dup, NR_038383.1:n.578_589dup, NR_038383.1:n.577_589dup, NR_038383.1:n.576_589dup, NR_038383.1:n.569_589dup, NR_038383.1:n.589_590insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          5.

          rs1491155319 has merged into rs10558962 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            12:98487986 (GRCh38)
            12:98881764 (GRCh37)
            Canonical SPDI:
            NC_000012.12:98487973:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:98487973:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:98487973:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:98487973:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:98487973:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:98487973:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:98487973:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98487973:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            LINC02453 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAA=0./0 (ALFA)
            HGVS:
            6.

            rs1491090979 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              12:98486779 (GRCh38)
              12:98880557 (GRCh37)
              Canonical SPDI:
              NC_000012.12:98486778:CA:
              Gene:
              LINC02453 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00118/14 (ALFA)
              -=0.00138/39 (TOMMO)
              HGVS:
              7.

              rs1491045564 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->CTT [Show Flanks]
                Chromosome:
                12:98491686 (GRCh38)
                12:98885465 (GRCh37)
                Canonical SPDI:
                NC_000012.12:98491686:TT:TTCTT
                Gene:
                LINC02453 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                TTCTT=0./0 (ALFA)
                TTC=0.0001/3 (GnomAD)
                HGVS:
                8.

                rs1490960792 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  12:98500878 (GRCh38)
                  12:98894656 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:98500877:A:G
                  Gene:
                  LINC02453 (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:
                  9.

                  rs1490892109 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    12:98499709 (GRCh38)
                    12:98893487 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:98499708:C:G,NC_000012.12:98499708:C:T
                    Gene:
                    LINC02453 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1490776315 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->CCTG [Show Flanks]
                      Chromosome:
                      12:98491896 (GRCh38)
                      12:98885675 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:98491896:GCCTG:GCCTGCCTG
                      Gene:
                      LINC02453 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GCCTGCCTG=0./0 (ALFA)
                      GCCT=0.000011/3 (TOPMED)
                      GCCT=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1490645492 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        12:98492391 (GRCh38)
                        12:98886169 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:98492390:A:C
                        Gene:
                        LINC02453 (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:
                        12.

                        rs1490462284 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          G>- [Show Flanks]
                          Chromosome:
                          12:98495266 (GRCh38)
                          12:98889044 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:98495265:G:
                          Gene:
                          LINC02453 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000014/2 (GnomAD)
                          -=0.000015/4 (TOPMED)
                          HGVS:
                          13.

                          rs1490422564 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            12:98505583 (GRCh38)
                            12:98899361 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:98505582:G:C
                            Gene:
                            LINC02453 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1490132871 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CT>- [Show Flanks]
                              Chromosome:
                              12:98497309 (GRCh38)
                              12:98891087 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:98497306:CTCT:CT
                              Gene:
                              LINC02453 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CTCT=0./0 (ALFA)
                              -=0.000021/3 (GnomAD)
                              -=0.000026/7 (TOPMED)
                              HGVS:
                              15.

                              rs1490030818 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                12:98498235 (GRCh38)
                                12:98892013 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:98498234:C:T
                                Gene:
                                LINC02453 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1489971163 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  12:98496323 (GRCh38)
                                  12:98890101 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:98496322:A:G
                                  Gene:
                                  LINC02453 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489919571 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    12:98498829 (GRCh38)
                                    12:98892607 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:98498828:T:C
                                    Gene:
                                    LINC02453 (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:
                                    18.

                                    rs1489845157 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      12:98503914 (GRCh38)
                                      12:98897692 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:98503913:G:A,NC_000012.12:98503913:G:C
                                      Gene:
                                      LINC02453 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489811829 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->T [Show Flanks]
                                        Chromosome:
                                        12:98490092 (GRCh38)
                                        12:98883871 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:98490092:TTTTTT:TTTTTTT
                                        Gene:
                                        LINC02453 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTTTTT=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000026/7 (TOPMED)
                                        T=0.000312/2 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs1489796133 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          12:98491213 (GRCh38)
                                          12:98884991 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:98491212:A:G
                                          Gene:
                                          LINC02453 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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