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Items: 1 to 20 of 2483

1.

rs1490430142 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    13:87804995 (GRCh38)
    13:88457250 (GRCh37)
    Canonical SPDI:
    NC_000013.11:87804994:C:A,NC_000013.11:87804994:C:T
    Gene:
    LINC00397 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490426809 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      13:87803578 (GRCh38)
      13:88455833 (GRCh37)
      Canonical SPDI:
      NC_000013.11:87803577:T:C
      Gene:
      LINC00397 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000011/3 (TOPMED)
      C=0.000021/3 (GnomAD)
      HGVS:
      3.

      rs1490411080 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        A>- [Show Flanks]
        Chromosome:
        13:87801395 (GRCh38)
        13:88453650 (GRCh37)
        Canonical SPDI:
        NC_000013.11:87801394:A:
        Gene:
        LINC00397 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.000007/1 (GnomAD)
        -=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1489937246 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          13:87804449 (GRCh38)
          13:88456704 (GRCh37)
          Canonical SPDI:
          NC_000013.11:87804448:T:C
          Gene:
          LINC00397 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1489719602 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TT>- [Show Flanks]
            Chromosome:
            13:87807411 (GRCh38)
            13:88459666 (GRCh37)
            Canonical SPDI:
            NC_000013.11:87807410:TT:
            Gene:
            LINC00397 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            -=0.000071/2 (TOMMO)
            HGVS:
            6.

            rs1489315548 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              13:87803227 (GRCh38)
              13:88455482 (GRCh37)
              Canonical SPDI:
              NC_000013.11:87803226:T:C
              Gene:
              LINC00397 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1489079243 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                13:87812085 (GRCh38)
                13:88464340 (GRCh37)
                Canonical SPDI:
                NC_000013.11:87812084:A:G
                Gene:
                LINC00397 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000008/2 (TOPMED)
                G=0.000212/4 (TOMMO)
                HGVS:
                8.

                rs1488822729 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  T>- [Show Flanks]
                  Chromosome:
                  13:87802847 (GRCh38)
                  13:88455102 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:87802846:TT:T
                  Gene:
                  LINC00397 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TT=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1488537612 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    13:87806560 (GRCh38)
                    13:88458815 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:87806559:C:A
                    Gene:
                    LINC00397 (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)
                    HGVS:
                    10.

                    rs1487839515 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      13:87810724 (GRCh38)
                      13:88462979 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:87810723:A:G
                      Gene:
                      LINC00397 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1487755381 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        13:87806761 (GRCh38)
                        13:88459016 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:87806760:T:C
                        Gene:
                        LINC00397 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1487616169 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          13:87810406 (GRCh38)
                          13:88462661 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:87810405:C:T
                          Gene:
                          LINC00397 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1487353174 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            13:87802398 (GRCh38)
                            13:88454653 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:87802397:G:C
                            Gene:
                            LINC00397 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1487131954 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              13:87802983 (GRCh38)
                              13:88455238 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:87802982:A:G
                              Gene:
                              LINC00397 (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:
                              15.

                              rs1486501889 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                13:87801981 (GRCh38)
                                13:88454236 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:87801980:A:C
                                Gene:
                                LINC00397 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1485788401 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  13:87805722 (GRCh38)
                                  13:88457977 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:87805721:A:C
                                  Gene:
                                  LINC00397 (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:
                                  17.

                                  rs1485410659 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    13:87808377 (GRCh38)
                                    13:88460632 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:87808376:T:C
                                    Gene:
                                    LINC00397 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1484678900 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      13:87808905 (GRCh38)
                                      13:88461160 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:87808904:G:C
                                      Gene:
                                      LINC00397 (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:
                                      19.

                                      rs1484372866 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        13:87811841 (GRCh38)
                                        13:88464096 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:87811840:A:G
                                        Gene:
                                        LINC00397 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1484131206 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          13:87804160 (GRCh38)
                                          13:88456415 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:87804159:G:A,NC_000013.11:87804159:G:C
                                          Gene:
                                          LINC00397 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:

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