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Items: 1 to 20 of 234

1.

rs1488921787 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C,T [Show Flanks]
    Chromosome:
    X:152736313 (GRCh38)
    X:151900649 (GRCh37)
    Canonical SPDI:
    NC_000023.11:152736312:G:A,NC_000023.11:152736312:G:C,NC_000023.11:152736312:G:T
    Gene:
    MAGEA12 (Varview), CSAG4 (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    A=0.00027/3 (TOMMO)
    HGVS:
    NC_000023.11:g.152736313G>A, NC_000023.11:g.152736313G>C, NC_000023.11:g.152736313G>T, NW_003871103.3:g.170296G>A, NW_003871103.3:g.170296G>C, NW_003871103.3:g.170296G>T, NG_013228.2:g.2422C>T, NG_013228.2:g.2422C>G, NG_013228.2:g.2422C>A, NG_015852.2:g.7496G>A, NG_015852.2:g.7496G>C, NG_015852.2:g.7496G>T, NM_005367.7:c.152G>A, NM_005367.7:c.152G>C, NM_005367.7:c.152G>T, NM_005367.6:c.152G>A, NM_005367.6:c.152G>C, NM_005367.6:c.152G>T, NM_005367.5:c.152G>A, NM_005367.5:c.152G>C, NM_005367.5:c.152G>T, NM_001166387.4:c.152G>A, NM_001166387.4:c.152G>C, NM_001166387.4:c.152G>T, NM_001166387.3:c.152G>A, NM_001166387.3:c.152G>C, NM_001166387.3:c.152G>T, NM_001166387.2:c.152G>A, NM_001166387.2:c.152G>C, NM_001166387.2:c.152G>T, NM_001166387.1:c.152G>A, NM_001166387.1:c.152G>C, NM_001166387.1:c.152G>T, NM_001166386.3:c.152G>A, NM_001166386.3:c.152G>C, NM_001166386.3:c.152G>T, NM_001166386.2:c.152G>A, NM_001166386.2:c.152G>C, NM_001166386.2:c.152G>T, NM_001166386.1:c.152G>A, NM_001166386.1:c.152G>C, NM_001166386.1:c.152G>T, NW_025791818.1:g.347295C>T, NW_025791818.1:g.347295C>G, NW_025791818.1:g.347295C>A, NC_000023.10:g.151900649C>T, NC_000023.10:g.151900649C>G, NC_000023.10:g.151900649C>A, NP_005358.2:p.Arg51Gln, NP_005358.2:p.Arg51Pro, NP_005358.2:p.Arg51Leu, NP_001159859.1:p.Arg51Gln, NP_001159859.1:p.Arg51Pro, NP_001159859.1:p.Arg51Leu, NP_001159858.1:p.Arg51Gln, NP_001159858.1:p.Arg51Pro, NP_001159858.1:p.Arg51Leu
    4.

    rs1456752230 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      X:152736560 (GRCh38)
      X:151900402 (GRCh37)
      Canonical SPDI:
      NC_000023.11:152736559:A:G
      Gene:
      MAGEA12 (Varview), CSAG4 (Varview)
      Functional Consequence:
      synonymous_variant,intron_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.00001/1 (GnomAD)
      HGVS:
      5.

      rs1448551947 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        X:152736657 (GRCh38)
        X:151900305 (GRCh37)
        Canonical SPDI:
        NC_000023.11:152736656:G:A
        Gene:
        MAGEA12 (Varview), CSAG4 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        HGVS:
        6.

        rs1444917354 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          X:152736308 (GRCh38)
          X:151900654 (GRCh37)
          Canonical SPDI:
          NC_000023.11:152736307:C:T
          Gene:
          MAGEA12 (Varview), CSAG4 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0.000004/1 (TOPMED)
          A=0.000005/1 (GnomAD_exomes)
          T=0.00001/1 (GnomAD)
          HGVS:
          7.

          rs1444441338 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            X:152736623 (GRCh38)
            X:151900339 (GRCh37)
            Canonical SPDI:
            NC_000023.11:152736622:C:T
            Gene:
            MAGEA12 (Varview), CSAG4 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000142/2 (ALFA)
            T=0.000015/4 (TOPMED)
            T=0.000029/3 (GnomAD)
            HGVS:
            8.

            rs1436706940 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              X:152736777 (GRCh38)
              X:151900185 (GRCh37)
              Canonical SPDI:
              NC_000023.11:152736776:C:T
              Gene:
              MAGEA12 (Varview), CSAG4 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              10.

              rs1433984992 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                X:152736959 (GRCh38)
                X:151900003 (GRCh37)
                Canonical SPDI:
                NC_000023.11:152736958:T:C
                Gene:
                MAGEA12 (Varview), CSAG4 (Varview)
                Functional Consequence:
                synonymous_variant,intron_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                G=0.000011/2 (GnomAD_exomes)
                HGVS:
                12.

                rs1420250344 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  X:152736280 (GRCh38)
                  X:151900682 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:152736279:C:T
                  Gene:
                  MAGEA12 (Varview), CSAG4 (Varview)
                  Functional Consequence:
                  missense_variant,intron_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000019/2 (GnomAD)
                  T=0.000042/11 (TOPMED)
                  HGVS:
                  13.

                  rs1413803473 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    X:152736347 (GRCh38)
                    X:151900615 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:152736346:C:T
                    Gene:
                    MAGEA12 (Varview), CSAG4 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.00001/1 (GnomAD)
                    HGVS:
                    14.

                    rs1402728386 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      X:152736350 (GRCh38)
                      X:151900612 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:152736349:C:T
                      Gene:
                      MAGEA12 (Varview), CSAG4 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000071/1 (ALFA)
                      A=0.000005/1 (GnomAD_exomes)
                      T=0.00001/1 (GnomAD)
                      T=0.000034/9 (TOPMED)
                      HGVS:
                      15.

                      rs1399248190 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        X:152736494 (GRCh38)
                        X:151900468 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:152736493:G:A
                        Gene:
                        MAGEA12 (Varview), CSAG4 (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        16.

                        rs1398805981 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          X:152736932 (GRCh38)
                          X:151900030 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:152736931:G:A
                          Gene:
                          MAGEA12 (Varview), CSAG4 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000008/2 (TOPMED)
                          T=0.000016/3 (GnomAD_exomes)
                          HGVS:
                          17.

                          rs1388712438 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            X:152736263 (GRCh38)
                            X:151900699 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:152736262:G:A
                            Gene:
                            MAGEA12 (Varview), CSAG4 (Varview)
                            Functional Consequence:
                            intron_variant,synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            T=0.000005/1 (GnomAD_exomes)
                            A=0.000019/2 (GnomAD)
                            A=0.000019/5 (TOPMED)
                            HGVS:
                            18.

                            rs1365083658 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              X:152736756 (GRCh38)
                              X:151900206 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:152736755:A:G
                              Gene:
                              MAGEA12 (Varview), CSAG4 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              19.

                              rs1362398313 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                X:152736338 (GRCh38)
                                X:151900624 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:152736337:A:G
                                Gene:
                                MAGEA12 (Varview), CSAG4 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,synonymous_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                G=0.000008/2 (TOPMED)
                                G=0.00001/1 (GnomAD)
                                C=0.000016/3 (GnomAD_exomes)
                                HGVS:
                                20.

                                rs1358778541 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  X:152736264 (GRCh38)
                                  X:151900698 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:152736263:G:A
                                  Gene:
                                  MAGEA12 (Varview), CSAG4 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.00001/1 (GnomAD)
                                  HGVS:

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