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Items: 1 to 20 of 2192

1.

rs1491319324 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GT>- [Show Flanks]
    Chromosome:
    5:67799627 (GRCh38)
    5:67095455 (GRCh37)
    Canonical SPDI:
    NC_000005.10:67799625:TGT:T
    Gene:
    LINC02997 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    -=0.000017/2 (GnomAD)
    HGVS:
    2.

    rs1491154271 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      5:67799626 (GRCh38)
      5:67095455 (GRCh37)
      Canonical SPDI:
      NC_000005.10:67799626:G:GG
      Gene:
      LINC02997 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      GG=0./0 (ALFA)
      G=0.000254/29 (GnomAD)
      HGVS:
      3.

      rs1491120804 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GTC [Show Flanks]
        Chromosome:
        5:67794159 (GRCh38)
        5:67089988 (GRCh37)
        Canonical SPDI:
        NC_000005.10:67794159:TC:TCGTC
        Gene:
        LINC02997 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TCGTC=0./0 (ALFA)
        TCG=0./0 (GnomAD)
        TCG=0.000026/7 (TOPMED)
        HGVS:
        4.

        rs1490323961 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G [Show Flanks]
          Chromosome:
          5:67795922 (GRCh38)
          5:67091750 (GRCh37)
          Canonical SPDI:
          NC_000005.10:67795921:C:A,NC_000005.10:67795921:C:G
          Gene:
          LINC02997 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1489858065 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            5:67794330 (GRCh38)
            5:67090158 (GRCh37)
            Canonical SPDI:
            NC_000005.10:67794329:A:G
            Gene:
            LINC02997 (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:
            6.

            rs1489831915 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              5:67795462 (GRCh38)
              5:67091290 (GRCh37)
              Canonical SPDI:
              NC_000005.10:67795461:A:G
              Gene:
              LINC02997 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000023/6 (TOPMED)
              HGVS:
              7.

              rs1488993085 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                5:67791951 (GRCh38)
                5:67087779 (GRCh37)
                Canonical SPDI:
                NC_000005.10:67791950:T:C
                Gene:
                LINC02997 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000015/4 (TOPMED)
                C=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1488886399 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  5:67794927 (GRCh38)
                  5:67090755 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:67794926:T:G
                  Gene:
                  LINC02997 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000014/2 (GnomAD)
                  G=0.000015/4 (TOPMED)
                  HGVS:
                  9.

                  rs1488072783 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    5:67801437 (GRCh38)
                    5:67097265 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:67801436:T:A
                    Gene:
                    LINC02997 (Varview)
                    Functional Consequence:
                    500B_downstream_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1487892639 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      5:67793800 (GRCh38)
                      5:67089628 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:67793799:T:C
                      Gene:
                      LINC02997 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000019/5 (TOPMED)
                      HGVS:
                      11.

                      rs1487687207 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        5:67801349 (GRCh38)
                        5:67097177 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:67801348:T:C
                        Gene:
                        LINC02997 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1487521175 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          5:67794059 (GRCh38)
                          5:67089887 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:67794058:C:A,NC_000005.10:67794058:C:T
                          Gene:
                          LINC02997 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000486/9 (ALFA)
                          A=0.000008/2 (TOPMED)
                          T=0.001786/8 (Estonian)
                          HGVS:
                          13.

                          rs1487312791 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            5:67793348 (GRCh38)
                            5:67089176 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:67793347:T:C
                            Gene:
                            LINC02997 (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:
                            14.

                            rs1486668411 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              5:67795228 (GRCh38)
                              5:67091056 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:67795227:C:T
                              Gene:
                              LINC02997 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1486372149 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                5:67796062 (GRCh38)
                                5:67091890 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:67796061:A:G
                                Gene:
                                LINC02997 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1486143068 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  5:67799648 (GRCh38)
                                  5:67095476 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:67799647:C:A,NC_000005.10:67799647:C:T
                                  Gene:
                                  LINC02997 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1486111836 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->CCTT [Show Flanks]
                                    Chromosome:
                                    5:67800649 (GRCh38)
                                    5:67096478 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:67800649:CCTT:CCTTCCTT
                                    Gene:
                                    LINC02997 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    CCTTCCTT=0./0 (ALFA)
                                    CCTT=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1486012630 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      5:67791532 (GRCh38)
                                      5:67087360 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:67791531:A:G
                                      Gene:
                                      LINC02997 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1485725318 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->A [Show Flanks]
                                        Chromosome:
                                        5:67800511 (GRCh38)
                                        5:67096340 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:67800511:AAAAAA:AAAAAAA
                                        Gene:
                                        LINC02997 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AAAAAAA=0.000071/1 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1485383116 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          5:67792347 (GRCh38)
                                          5:67088175 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:67792346:G:A
                                          Gene:
                                          LINC02997 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000015/4 (TOPMED)
                                          HGVS:

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