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Items: 1 to 20 of 547

1.

rs1489342303 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CAGAGGGCAGTGCTTAATAG>- [Show Flanks]
    Chromosome:
    12:97562928 (GRCh38)
    12:97956706 (GRCh37)
    Canonical SPDI:
    NC_000012.12:97562925:AGCAGAGGGCAGTGCTTAATAG:AG
    Gene:
    RMST (Varview), MIR135A2 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    AG=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1488035375 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G,T [Show Flanks]
      Chromosome:
      12:97562892 (GRCh38)
      12:97956670 (GRCh37)
      Canonical SPDI:
      NC_000012.12:97562891:A:G,NC_000012.12:97562891:A:T
      Gene:
      RMST (Varview), MIR135A2 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1486325361 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        12:97563210 (GRCh38)
        12:97956988 (GRCh37)
        Canonical SPDI:
        NC_000012.12:97563209:G:A
        Gene:
        RMST (Varview), MIR135A2 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000019/5 (TOPMED)
        A=0.000029/4 (GnomAD)
        A=0.000342/1 (KOREAN)
        HGVS:
        4.

        rs1486247699 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          12:97563041 (GRCh38)
          12:97956819 (GRCh37)
          Canonical SPDI:
          NC_000012.12:97563040:T:A
          Gene:
          RMST (Varview), MIR135A2 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1485070226 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            A>- [Show Flanks]
            Chromosome:
            12:97562342 (GRCh38)
            12:97956120 (GRCh37)
            Canonical SPDI:
            NC_000012.12:97562341:AAA:AA
            Gene:
            RMST (Varview), MIR135A2 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AA=0./0 (ALFA)
            -=0.000011/3 (TOPMED)
            -=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1484960706 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              12:97564005 (GRCh38)
              12:97957783 (GRCh37)
              Canonical SPDI:
              NC_000012.12:97564004:C:T
              Gene:
              RMST (Varview), MIR135A2 (Varview)
              Functional Consequence:
              downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1484929202 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                12:97562780 (GRCh38)
                12:97956558 (GRCh37)
                Canonical SPDI:
                NC_000012.12:97562779:A:G
                Gene:
                RMST (Varview), MIR135A2 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1483893107 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  12:97563770 (GRCh38)
                  12:97957548 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:97563769:G:A
                  Gene:
                  RMST (Varview), MIR135A2 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000006/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1483808578 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    12:97564174 (GRCh38)
                    12:97957952 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:97564173:T:C
                    Gene:
                    RMST (Varview), MIR135A2 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1478841494 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      A>- [Show Flanks]
                      Chromosome:
                      12:97563023 (GRCh38)
                      12:97956801 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:97563022:A:
                      Gene:
                      RMST (Varview), MIR135A2 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0.000071/1 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1477859291 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        12:97563547 (GRCh38)
                        12:97957325 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:97563546:T:A
                        Gene:
                        RMST (Varview), MIR135A2 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1477619360 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          12:97562520 (GRCh38)
                          12:97956298 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:97562519:G:T
                          Gene:
                          RMST (Varview), MIR135A2 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1477183690 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            12:97563918 (GRCh38)
                            12:97957696 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:97563917:A:G
                            Gene:
                            RMST (Varview), MIR135A2 (Varview)
                            Functional Consequence:
                            intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by cluster
                            HGVS:
                            14.

                            rs1474605535 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              12:97563659 (GRCh38)
                              12:97957437 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:97563658:A:G
                              Gene:
                              RMST (Varview), MIR135A2 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1474575071 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                12:97562462 (GRCh38)
                                12:97956240 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:97562461:G:T
                                Gene:
                                RMST (Varview), MIR135A2 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1473178818 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  12:97563170 (GRCh38)
                                  12:97956948 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:97563169:A:G
                                  Gene:
                                  RMST (Varview), MIR135A2 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1471418327 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    12:97562065 (GRCh38)
                                    12:97955843 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:97562064:C:G
                                    Gene:
                                    RMST (Varview), MIR135A2 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1470126705 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      12:97562197 (GRCh38)
                                      12:97955975 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:97562196:A:T
                                      Gene:
                                      RMST (Varview), MIR135A2 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1470019250 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C [Show Flanks]
                                        Chromosome:
                                        12:97563275 (GRCh38)
                                        12:97957053 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:97563274:T:A,NC_000012.12:97563274:T:C
                                        Gene:
                                        RMST (Varview), MIR135A2 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1469716415 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          12:97562097 (GRCh38)
                                          12:97955875 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:97562096:A:G
                                          Gene:
                                          RMST (Varview), MIR135A2 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000014/2 (GnomAD)
                                          G=0.000023/6 (TOPMED)
                                          HGVS:

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