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Items: 1 to 20 of 182

1.

rs1490227393 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    X:149884844 (GRCh38)
    X:149013618 (GRCh37)
    Canonical SPDI:
    NC_000023.11:149884843:G:A
    Gene:
    MAGEA8 (Varview), MAGEA8-AS1 (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:
    2.

    rs1466830045 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      X:149884497 (GRCh38)
      X:149013271 (GRCh37)
      Canonical SPDI:
      NC_000023.11:149884496:C:T
      Gene:
      MAGEA8 (Varview), MAGEA8-AS1 (Varview)
      Functional Consequence:
      synonymous_variant,intron_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000108/2 (ALFA)
      T=0.000019/5 (TOPMED)
      T=0.000048/5 (GnomAD)
      HGVS:
      3.

      rs1457946962 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        X:149884635 (GRCh38)
        X:149013409 (GRCh37)
        Canonical SPDI:
        NC_000023.11:149884634:T:C
        Gene:
        MAGEA8 (Varview), MAGEA8-AS1 (Varview)
        Functional Consequence:
        synonymous_variant,intron_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1457888931 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          X:149885176 (GRCh38)
          X:149013950 (GRCh37)
          Canonical SPDI:
          NC_000023.11:149885175:A:G
          Gene:
          MAGEA8 (Varview), MAGEA8-AS1 (Varview)
          Functional Consequence:
          missense_variant,intron_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000015/4 (TOPMED)
          G=0.000017/3 (GnomAD_exomes)
          HGVS:
          5.

          rs1446197752 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            X:149885173 (GRCh38)
            X:149013947 (GRCh37)
            Canonical SPDI:
            NC_000023.11:149885172:C:T
            Gene:
            MAGEA8 (Varview), MAGEA8-AS1 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.00001/1 (GnomAD)
            HGVS:
            6.

            rs1443127087 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              X:149884533 (GRCh38)
              X:149013307 (GRCh37)
              Canonical SPDI:
              NC_000023.11:149884532:C:T
              Gene:
              MAGEA8 (Varview), MAGEA8-AS1 (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:
              7.

              rs1423235490 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                X:149884650 (GRCh38)
                X:149013424 (GRCh37)
                Canonical SPDI:
                NC_000023.11:149884649:A:G
                Gene:
                MAGEA8 (Varview), MAGEA8-AS1 (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:
                8.

                rs1415137949 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  X:149884525 (GRCh38)
                  X:149013299 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:149884524:G:A
                  Gene:
                  MAGEA8 (Varview), MAGEA8-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1403804290 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    X:149884785 (GRCh38)
                    X:149013559 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:149884784:A:G
                    Gene:
                    MAGEA8 (Varview), MAGEA8-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1401317206 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      X:149885123 (GRCh38)
                      X:149013897 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:149885122:C:A
                      Gene:
                      MAGEA8 (Varview), MAGEA8-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_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:
                      11.

                      rs1386946683 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        X:149884750 (GRCh38)
                        X:149013524 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:149884749:T:G
                        Gene:
                        MAGEA8 (Varview), MAGEA8-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.00001/1 (GnomAD)
                        HGVS:
                        12.

                        rs1381985463 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          X:149884614 (GRCh38)
                          X:149013388 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:149884613:G:A
                          Gene:
                          MAGEA8 (Varview), MAGEA8-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1362465362 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            X:149884800 (GRCh38)
                            X:149013574 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:149884799:C:T
                            Gene:
                            MAGEA8 (Varview), MAGEA8-AS1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000005/1 (GnomAD_exomes)
                            T=0.000011/3 (TOPMED)
                            T=0.000019/2 (GnomAD)
                            HGVS:
                            15.

                            rs1352427589 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              X:149884498 (GRCh38)
                              X:149013272 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:149884497:G:A
                              Gene:
                              MAGEA8 (Varview), MAGEA8-AS1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.00001/1 (GnomAD)
                              A=0.000019/5 (TOPMED)
                              A=0.000045/1 (TOMMO)
                              HGVS:
                              16.

                              rs1351152400 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                X:149884640 (GRCh38)
                                X:149013414 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:149884639:T:C
                                Gene:
                                MAGEA8 (Varview), MAGEA8-AS1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000006/1 (GnomAD_exomes)
                                C=0.00001/1 (GnomAD)
                                C=0.000011/3 (TOPMED)
                                HGVS:
                                17.

                                rs1340650793 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  X:149884888 (GRCh38)
                                  X:149013662 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:149884887:A:T
                                  Gene:
                                  MAGEA8 (Varview), MAGEA8-AS1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  18.

                                  rs1335174001 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TGGGGTCCAAGGGCCCTTGCTG>- [Show Flanks]
                                    Chromosome:
                                    X:149885098 (GRCh38)
                                    X:149013872 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:149885094:CTGTGGGGTCCAAGGGCCCTTGCTG:CTG
                                    Gene:
                                    MAGEA8 (Varview), MAGEA8-AS1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,intron_variant,frameshift_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    CTG=0./0 (ALFA)
                                    -=0.000008/2 (TOPMED)
                                    HGVS:
                                    20.

                                    rs1322466234 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      X:149884580 (GRCh38)
                                      X:149013354 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:149884579:A:C
                                      Gene:
                                      MAGEA8 (Varview), MAGEA8-AS1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:

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