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Items: 1 to 20 of 897

1.

rs1490483180 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    A>- [Show Flanks]
    Chromosome:
    12:89950101 (GRCh38)
    12:90343878 (GRCh37)
    Canonical SPDI:
    NC_000012.12:89950100:A:
    Gene:
    LOC105369890 (Varview), LINC02399 (Varview)
    Functional Consequence:
    downstream_transcript_variant,intron_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1488291608 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      12:89947794 (GRCh38)
      12:90341571 (GRCh37)
      Canonical SPDI:
      NC_000012.12:89947793:A:C
      Gene:
      LOC105369890 (Varview), LINC02399 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1487797544 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TGCTAAT>- [Show Flanks]
        Chromosome:
        12:89948462 (GRCh38)
        12:90342239 (GRCh37)
        Canonical SPDI:
        NC_000012.12:89948459:ATTGCTAAT:AT
        Gene:
        LOC105369890 (Varview), LINC02399 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AT=0.000071/1 (ALFA)
        -=0.000086/12 (GnomAD)
        -=0.000151/40 (TOPMED)
        -=0.000312/2 (1000Genomes)
        HGVS:
        4.

        rs1486688163 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          12:89946794 (GRCh38)
          12:90340571 (GRCh37)
          Canonical SPDI:
          NC_000012.12:89946793:G:A
          Gene:
          LOC105369890 (Varview), LINC02399 (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          A=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1485312595 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            12:89946804 (GRCh38)
            12:90340581 (GRCh37)
            Canonical SPDI:
            NC_000012.12:89946803:G:T
            Gene:
            LOC105369890 (Varview), LINC02399 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1484724896 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              12:89945774 (GRCh38)
              12:90339551 (GRCh37)
              Canonical SPDI:
              NC_000012.12:89945773:A:G
              Gene:
              LOC105369890 (Varview), LINC02399 (Varview)
              Functional Consequence:
              intron_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              HGVS:
              7.

              rs1484677044 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                12:89949215 (GRCh38)
                12:90342992 (GRCh37)
                Canonical SPDI:
                NC_000012.12:89949214:A:C
                Gene:
                LOC105369890 (Varview), LINC02399 (Varview)
                Functional Consequence:
                intron_variant
                HGVS:
                8.

                rs1482804001 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  12:89947985 (GRCh38)
                  12:90341762 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:89947984:G:C
                  Gene:
                  LOC105369890 (Varview), LINC02399 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1482792020 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    12:89948004 (GRCh38)
                    12:90341781 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:89948003:G:A
                    Gene:
                    LOC105369890 (Varview), LINC02399 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1481985314 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      12:89949135 (GRCh38)
                      12:90342912 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:89949134:G:A,NC_000012.12:89949134:G:T
                      Gene:
                      LOC105369890 (Varview), LINC02399 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1481087453 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        12:89946686 (GRCh38)
                        12:90340463 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:89946685:G:A
                        Gene:
                        LOC105369890 (Varview), LINC02399 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000021/3 (GnomAD)
                        HGVS:
                        12.

                        rs1478911479 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          C>- [Show Flanks]
                          Chromosome:
                          12:89948444 (GRCh38)
                          12:90342221 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:89948443:CC:C
                          Gene:
                          LOC105369890 (Varview), LINC02399 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          CC=0.000084/1 (ALFA)
                          -=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1477572326 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            12:89946661 (GRCh38)
                            12:90340438 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:89946660:C:G
                            Gene:
                            LOC105369890 (Varview), LINC02399 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1476251597 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              12:89947980 (GRCh38)
                              12:90341757 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:89947979:T:C
                              Gene:
                              LOC105369890 (Varview), LINC02399 (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:
                              15.

                              rs1476159202 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                12:89949145 (GRCh38)
                                12:90342922 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:89949144:A:G
                                Gene:
                                LOC105369890 (Varview), LINC02399 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000029/4 (GnomAD)
                                HGVS:
                                16.

                                rs1475335762 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  12:89946371 (GRCh38)
                                  12:90340148 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:89946370:T:C
                                  Gene:
                                  LOC105369890 (Varview), LINC02399 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1475270443 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    12:89947503 (GRCh38)
                                    12:90341280 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:89947502:G:A,NC_000012.12:89947502:G:T
                                    Gene:
                                    LOC105369890 (Varview), LINC02399 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1475115181 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      12:89946045 (GRCh38)
                                      12:90339822 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:89946044:C:G,NC_000012.12:89946044:C:T
                                      Gene:
                                      LOC105369890 (Varview), LINC02399 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1473292349 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        12:89949940 (GRCh38)
                                        12:90343717 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:89949939:C:T
                                        Gene:
                                        LOC105369890 (Varview), LINC02399 (Varview)
                                        Functional Consequence:
                                        intron_variant,downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1473050896 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          12:89947971 (GRCh38)
                                          12:90341748 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:89947970:T:C
                                          Gene:
                                          LOC105369890 (Varview), LINC02399 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:

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