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Items: 1 to 20 of 286

3.

rs1480543633 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    X:152767622 (GRCh38)
    X:151936138 (GRCh37)
    Canonical SPDI:
    NC_000023.11:152767621:C:T
    Gene:
    MAGEA6 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.01686/200 (ALFA)
    A=0.00821/31 (1000Genomes)
    A=0.01301/578 (GnomAD_exomes)
    A=0.02899/18 (ExAC)
    G=0.25/1 (SGDP_PRJ)
    HGVS:
    5.

    rs1474857032 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      X:152767418 (GRCh38)
      X:151935934 (GRCh37)
      Canonical SPDI:
      NC_000023.11:152767417:G:A
      Gene:
      MAGEA6 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000019/5 (TOPMED)
      A=0.000021/2 (GnomAD)
      HGVS:
      6.

      rs1473519313 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        X:152767317 (GRCh38)
        X:151935833 (GRCh37)
        Canonical SPDI:
        NC_000023.11:152767316:T:C
        Gene:
        MAGEA6 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.00001/1 (GnomAD)
        G=0.000016/3 (GnomAD_exomes)
        HGVS:
        8.

        rs1470186131 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          X:152767407 (GRCh38)
          X:151935923 (GRCh37)
          Canonical SPDI:
          NC_000023.11:152767406:G:C
          Gene:
          MAGEA6 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000008/2 (TOPMED)
          HGVS:
          9.

          rs1453855875 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            X:152766964 (GRCh38)
            X:151935480 (GRCh37)
            Canonical SPDI:
            NC_000023.11:152766963:C:T
            Gene:
            MAGEA6 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            A=0.000005/1 (GnomAD_exomes)
            T=0.000019/2 (GnomAD)
            HGVS:
            10.

            rs1445974301 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              X:152767347 (GRCh38)
              X:151935863 (GRCh37)
              Canonical SPDI:
              NC_000023.11:152767346:C:G
              Gene:
              MAGEA6 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000019/5 (TOPMED)
              G=0.000022/4 (GnomAD_exomes)
              HGVS:
              11.

              rs1442316680 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                X:152767521 (GRCh38)
                X:151936037 (GRCh37)
                Canonical SPDI:
                NC_000023.11:152767520:T:C
                Gene:
                MAGEA6 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.00001/1 (GnomAD)
                HGVS:
                12.

                rs1441215827 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  X:152767586 (GRCh38)
                  X:151936102 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:152767585:G:C
                  Gene:
                  MAGEA6 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.00014/2 (ALFA)
                  C=0.00006/3 (GnomAD_exomes)
                  HGVS:
                  13.

                  rs1437370832 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    X:152767482 (GRCh38)
                    X:151935998 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:152767481:C:T
                    Gene:
                    MAGEA6 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000253/3 (ALFA)
                    A=0.000023/3 (GnomAD_exomes)
                    T=0.000045/1 (TOMMO)
                    HGVS:
                    15.

                    rs1424992882 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      X:152767611 (GRCh38)
                      X:151936127 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:152767610:C:T
                      Gene:
                      MAGEA6 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.00002/1 (GnomAD)
                      A=0.00002/1 (GnomAD_exomes)
                      HGVS:
                      16.

                      rs1422341387 has merged into rs782686360 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        X:152767595 (GRCh38)
                        X:151936111 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:152767594:C:T
                        Gene:
                        MAGEA6 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000032/2 (GnomAD)
                        A=0.00006/3 (GnomAD_exomes)
                        T=0.000079/21 (TOPMED)
                        HGVS:
                        18.

                        rs1416610321 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          X:152767613 (GRCh38)
                          X:151936129 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:152767612:T:A
                          Gene:
                          MAGEA6 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.00002/1 (GnomAD_exomes)
                          A=0.00003/2 (GnomAD)
                          HGVS:
                          19.

                          rs1409103060 has merged into rs782800326 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            X:152767504 (GRCh38)
                            X:151936020 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:152767503:G:A
                            Gene:
                            MAGEA6 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            T=0.000018/2 (GnomAD_exomes)
                            A=0.000027/2 (GnomAD)
                            HGVS:

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