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Items: 1 to 20 of 3229

1.

rs1490883099 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    X:151922447 (GRCh38)
    X:151090919 (GRCh37)
    Canonical SPDI:
    NC_000023.11:151922446:C:T
    Gene:
    MAGEA4 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000019/2 (GnomAD)
    T=0.000026/7 (TOPMED)
    HGVS:
    2.

    rs1490786244 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      X:151913770 (GRCh38)
      X:151082242 (GRCh37)
      Canonical SPDI:
      NC_000023.11:151913769:G:A
      Gene:
      MAGEA4 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.00001/1 (GnomAD)
      A=0.000094/25 (TOPMED)
      HGVS:
      3.

      rs1490702558 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        X:151915386 (GRCh38)
        X:151083858 (GRCh37)
        Canonical SPDI:
        NC_000023.11:151915385:A:C
        Gene:
        MAGEA4 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by cluster
        MAF:
        A=0./0 (SGDP_PRJ)
        C=0.278/45 (KOREAN)
        HGVS:
        4.

        rs1490674817 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          X:151916090 (GRCh38)
          X:151084562 (GRCh37)
          Canonical SPDI:
          NC_000023.11:151916089:C:G
          Gene:
          MAGEA4 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          HGVS:
          5.

          rs1490671966 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            X:151918307 (GRCh38)
            X:151086779 (GRCh37)
            Canonical SPDI:
            NC_000023.11:151918306:C:T
            Gene:
            MAGEA4 (Varview)
            Functional Consequence:
            intron_variant,5_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1490064745 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              X:151922929 (GRCh38)
              X:151091401 (GRCh37)
              Canonical SPDI:
              NC_000023.11:151922928:C:T
              Gene:
              MAGEA4 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000019/5 (TOPMED)
              HGVS:
              7.

              rs1489879912 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                X:151917814 (GRCh38)
                X:151086286 (GRCh37)
                Canonical SPDI:
                NC_000023.11:151917813:C:G,NC_000023.11:151917813:C:T
                Gene:
                MAGEA4 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000019/5 (TOPMED)
                HGVS:
                8.

                rs1489856124 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  X:151917664 (GRCh38)
                  X:151086136 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:151917663:G:C
                  Gene:
                  MAGEA4 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.00001/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489800401 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    X:151915532 (GRCh38)
                    X:151084004 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:151915531:G:C
                    Gene:
                    MAGEA4 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1489562982 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      X:151919610 (GRCh38)
                      X:151088082 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:151919609:A:G
                      Gene:
                      MAGEA4 (Varview)
                      Functional Consequence:
                      intron_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.00006/1 (ALFA)
                      G=0.00001/1 (GnomAD)
                      G=0.00009/2 (TOMMO)
                      HGVS:
                      11.

                      rs1489209520 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        X:151923556 (GRCh38)
                        X:151092028 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:151923555:T:C,NC_000023.11:151923555:T:G
                        Gene:
                        MAGEA4 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        C=0.000006/1 (GnomAD_exomes)
                        G=0.000008/2 (TOPMED)
                        G=0.00001/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489005949 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          X:151919644 (GRCh38)
                          X:151088116 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:151919643:G:T
                          Gene:
                          MAGEA4 (Varview)
                          Functional Consequence:
                          intron_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000019/5 (TOPMED)
                          HGVS:
                          13.

                          rs1488865562 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            X:151917933 (GRCh38)
                            X:151086405 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:151917932:C:T
                            Gene:
                            MAGEA4 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1488814143 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AG>- [Show Flanks]
                              Chromosome:
                              X:151918519 (GRCh38)
                              X:151086991 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:151918516:AGAG:AG
                              Gene:
                              MAGEA4 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              AGAG=0./0 (ALFA)
                              -=0.00005/2 (GnomAD)
                              HGVS:
                              15.

                              rs1488567876 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                X:151913434 (GRCh38)
                                X:151081906 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:151913433:G:A,NC_000023.11:151913433:G:T
                                Gene:
                                MAGEA4 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                A=0.000011/1 (GnomAD)
                                A=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1488289102 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  X:151914132 (GRCh38)
                                  X:151082604 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:151914131:C:T
                                  Gene:
                                  MAGEA4 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1487732440 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    X:151919279 (GRCh38)
                                    X:151087751 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:151919278:T:C
                                    Gene:
                                    MAGEA4 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.00017/2 (ALFA)
                                    C=0.00014/2 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1487549010 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      X:151922049 (GRCh38)
                                      X:151090521 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:151922048:C:G
                                      Gene:
                                      MAGEA4 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.00001/1 (GnomAD)
                                      G=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1487404764 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        X:151919097 (GRCh38)
                                        X:151087569 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:151919096:C:A,NC_000023.11:151919096:C:T
                                        Gene:
                                        MAGEA4 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.00001/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1487374609 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          C>-,CC [Show Flanks]
                                          Chromosome:
                                          X:151920652 (GRCh38)
                                          X:151089124 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:151920651:CCCCCC:CCCCC,NC_000023.11:151920651:CCCCCC:CCCCCCC
                                          Gene:
                                          MAGEA4 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          CCCCC=0.000061/1 (ALFA)
                                          -=0.000008/2 (TOPMED)
                                          HGVS:

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