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Items: 1 to 20 of 2295

1.

rs1491504976 has merged into rs1163942144 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
    Chromosome:
    X:57904867 (GRCh38)
    X:57931301 (GRCh37)
    Canonical SPDI:
    NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TATATATATATA=0./0 (ALFA)
    -=0.000011/3 (TOPMED)
    HGVS:
    NC_000023.11:g.57904855TA[6], NC_000023.11:g.57904855TA[7], NC_000023.11:g.57904855TA[8], NC_000023.11:g.57904855TA[9], NC_000023.11:g.57904855TA[10], NC_000023.11:g.57904855TA[11], NC_000023.11:g.57904855TA[12], NC_000023.11:g.57904855TA[13], NC_000023.11:g.57904855TA[14], NC_000023.11:g.57904855TA[15], NC_000023.11:g.57904855TA[16], NC_000023.11:g.57904855TA[18], NC_000023.11:g.57904855TA[19], NC_000023.11:g.57904855TA[20], NC_000023.11:g.57904855TA[21], NC_000023.11:g.57904855TA[22], NC_000023.11:g.57904855TA[23], NC_000023.11:g.57904855TA[24], NC_000023.11:g.57904855TA[25], NC_000023.11:g.57904855TA[26], NC_000023.11:g.57904855TA[30], NC_000023.10:g.57931289TA[6], NC_000023.10:g.57931289TA[7], NC_000023.10:g.57931289TA[8], NC_000023.10:g.57931289TA[9], NC_000023.10:g.57931289TA[10], NC_000023.10:g.57931289TA[11], NC_000023.10:g.57931289TA[12], NC_000023.10:g.57931289TA[13], NC_000023.10:g.57931289TA[14], NC_000023.10:g.57931289TA[15], NC_000023.10:g.57931289TA[16], NC_000023.10:g.57931289TA[18], NC_000023.10:g.57931289TA[19], NC_000023.10:g.57931289TA[20], NC_000023.10:g.57931289TA[21], NC_000023.10:g.57931289TA[22], NC_000023.10:g.57931289TA[23], NC_000023.10:g.57931289TA[24], NC_000023.10:g.57931289TA[25], NC_000023.10:g.57931289TA[26], NC_000023.10:g.57931289TA[30], NG_015974.1:g.10746TA[6], NG_015974.1:g.10746TA[7], NG_015974.1:g.10746TA[8], NG_015974.1:g.10746TA[9], NG_015974.1:g.10746TA[10], NG_015974.1:g.10746TA[11], NG_015974.1:g.10746TA[12], NG_015974.1:g.10746TA[13], NG_015974.1:g.10746TA[14], NG_015974.1:g.10746TA[15], NG_015974.1:g.10746TA[16], NG_015974.1:g.10746TA[18], NG_015974.1:g.10746TA[19], NG_015974.1:g.10746TA[20], NG_015974.1:g.10746TA[21], NG_015974.1:g.10746TA[22], NG_015974.1:g.10746TA[23], NG_015974.1:g.10746TA[24], NG_015974.1:g.10746TA[25], NG_015974.1:g.10746TA[26], NG_015974.1:g.10746TA[30]
    2.

    rs1491228924 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      X:57904854 (GRCh38)
      X:57931288 (GRCh37)
      Canonical SPDI:
      NC_000023.11:57904853:CT:
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00008/1 (ALFA)
      -=0.0005/11 (TOMMO)
      HGVS:
      3.

      rs1491168034 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TA>- [Show Flanks]
        Chromosome:
        X:57906657 (GRCh38)
        X:57933091 (GRCh37)
        Canonical SPDI:
        NC_000023.11:57906656:TA:
        Gene:
        ZXDA (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.00008/1 (ALFA)
        -=0.00012/10 (GnomAD)
        HGVS:
        4.

        rs1491164686 has merged into rs1163942144 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
          Chromosome:
          X:57904867 (GRCh38)
          X:57931301 (GRCh37)
          Canonical SPDI:
          NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TATATATATATA=0./0 (ALFA)
          -=0.000011/3 (TOPMED)
          HGVS:
          NC_000023.11:g.57904855TA[6], NC_000023.11:g.57904855TA[7], NC_000023.11:g.57904855TA[8], NC_000023.11:g.57904855TA[9], NC_000023.11:g.57904855TA[10], NC_000023.11:g.57904855TA[11], NC_000023.11:g.57904855TA[12], NC_000023.11:g.57904855TA[13], NC_000023.11:g.57904855TA[14], NC_000023.11:g.57904855TA[15], NC_000023.11:g.57904855TA[16], NC_000023.11:g.57904855TA[18], NC_000023.11:g.57904855TA[19], NC_000023.11:g.57904855TA[20], NC_000023.11:g.57904855TA[21], NC_000023.11:g.57904855TA[22], NC_000023.11:g.57904855TA[23], NC_000023.11:g.57904855TA[24], NC_000023.11:g.57904855TA[25], NC_000023.11:g.57904855TA[26], NC_000023.11:g.57904855TA[30], NC_000023.10:g.57931289TA[6], NC_000023.10:g.57931289TA[7], NC_000023.10:g.57931289TA[8], NC_000023.10:g.57931289TA[9], NC_000023.10:g.57931289TA[10], NC_000023.10:g.57931289TA[11], NC_000023.10:g.57931289TA[12], NC_000023.10:g.57931289TA[13], NC_000023.10:g.57931289TA[14], NC_000023.10:g.57931289TA[15], NC_000023.10:g.57931289TA[16], NC_000023.10:g.57931289TA[18], NC_000023.10:g.57931289TA[19], NC_000023.10:g.57931289TA[20], NC_000023.10:g.57931289TA[21], NC_000023.10:g.57931289TA[22], NC_000023.10:g.57931289TA[23], NC_000023.10:g.57931289TA[24], NC_000023.10:g.57931289TA[25], NC_000023.10:g.57931289TA[26], NC_000023.10:g.57931289TA[30], NG_015974.1:g.10746TA[6], NG_015974.1:g.10746TA[7], NG_015974.1:g.10746TA[8], NG_015974.1:g.10746TA[9], NG_015974.1:g.10746TA[10], NG_015974.1:g.10746TA[11], NG_015974.1:g.10746TA[12], NG_015974.1:g.10746TA[13], NG_015974.1:g.10746TA[14], NG_015974.1:g.10746TA[15], NG_015974.1:g.10746TA[16], NG_015974.1:g.10746TA[18], NG_015974.1:g.10746TA[19], NG_015974.1:g.10746TA[20], NG_015974.1:g.10746TA[21], NG_015974.1:g.10746TA[22], NG_015974.1:g.10746TA[23], NG_015974.1:g.10746TA[24], NG_015974.1:g.10746TA[25], NG_015974.1:g.10746TA[26], NG_015974.1:g.10746TA[30]
          5.

          rs1491076625 has merged into rs199969464 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA [Show Flanks]
            Chromosome:
            X:57906677 (GRCh38)
            X:57933111 (GRCh37)
            Canonical SPDI:
            NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA
            Gene:
            ZXDA (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            ACACACACACACACACACACA=0./0 (ALFA)
            AC=0.15709/593 (1000Genomes)
            HGVS:
            NC_000023.11:g.57906659CA[9], NC_000023.11:g.57906659CA[10], NC_000023.11:g.57906659CA[11], NC_000023.11:g.57906659CA[12], NC_000023.11:g.57906659CA[13], NC_000023.11:g.57906659CA[14], NC_000023.11:g.57906659CA[15], NC_000023.11:g.57906659CA[17], NC_000023.11:g.57906659CA[18], NC_000023.11:g.57906659CA[19], NC_000023.11:g.57906659CA[20], NC_000023.11:g.57906659CA[21], NC_000023.11:g.57906659CA[22], NC_000023.10:g.57933093CA[9], NC_000023.10:g.57933093CA[10], NC_000023.10:g.57933093CA[11], NC_000023.10:g.57933093CA[12], NC_000023.10:g.57933093CA[13], NC_000023.10:g.57933093CA[14], NC_000023.10:g.57933093CA[15], NC_000023.10:g.57933093CA[17], NC_000023.10:g.57933093CA[18], NC_000023.10:g.57933093CA[19], NC_000023.10:g.57933093CA[20], NC_000023.10:g.57933093CA[21], NC_000023.10:g.57933093CA[22], NG_015974.1:g.8945GT[9], NG_015974.1:g.8945GT[10], NG_015974.1:g.8945GT[11], NG_015974.1:g.8945GT[12], NG_015974.1:g.8945GT[13], NG_015974.1:g.8945GT[14], NG_015974.1:g.8945GT[15], NG_015974.1:g.8945GT[17], NG_015974.1:g.8945GT[18], NG_015974.1:g.8945GT[19], NG_015974.1:g.8945GT[20], NG_015974.1:g.8945GT[21], NG_015974.1:g.8945GT[22], NM_007156.4:c.*1332GT[9], NM_007156.4:c.*1332GT[10], NM_007156.4:c.*1332GT[11], NM_007156.4:c.*1332GT[12], NM_007156.4:c.*1332GT[13], NM_007156.4:c.*1332GT[14], NM_007156.4:c.*1332GT[15], NM_007156.4:c.*1332GT[17], NM_007156.4:c.*1332GT[18], NM_007156.4:c.*1332GT[19], NM_007156.4:c.*1332GT[20], NM_007156.4:c.*1332GT[21], NM_007156.4:c.*1332GT[22], NM_007156.5:c.*1332GT[9], NM_007156.5:c.*1332GT[10], NM_007156.5:c.*1332GT[11], NM_007156.5:c.*1332GT[12], NM_007156.5:c.*1332GT[13], NM_007156.5:c.*1332GT[14], NM_007156.5:c.*1332GT[15], NM_007156.5:c.*1332GT[17], NM_007156.5:c.*1332GT[18], NM_007156.5:c.*1332GT[19], NM_007156.5:c.*1332GT[20], NM_007156.5:c.*1332GT[21], NM_007156.5:c.*1332GT[22]
            6.

            rs1490709863 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              X:57907681 (GRCh38)
              X:57934115 (GRCh37)
              Canonical SPDI:
              NC_000023.11:57907680:T:C
              Gene:
              ZXDA (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.00008/1 (TOMMO)
              HGVS:
              7.

              rs1490544818 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                X:57906910 (GRCh38)
                X:57933344 (GRCh37)
                Canonical SPDI:
                NC_000023.11:57906909:G:A,NC_000023.11:57906909:G:C
                Gene:
                ZXDA (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000015/4 (TOPMED)
                HGVS:
                8.

                rs1490018961 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  X:57915564 (GRCh38)
                  X:57941998 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:57915563:T:G
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000023/6 (TOPMED)
                  HGVS:
                  9.

                  rs1489480218 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    X:57910878 (GRCh38)
                    X:57937312 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:57910877:C:G
                    Gene:
                    ZXDA (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.00001/1 (GnomAD)
                    HGVS:
                    10.

                    rs1488839478 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      X:57905481 (GRCh38)
                      X:57931915 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:57905480:T:C
                      Gene:
                      ZXDA (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1488834606 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        X:57909839 (GRCh38)
                        X:57936273 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:57909838:C:T
                        Gene:
                        ZXDA (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        HGVS:
                        12.

                        rs1488755903 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          X:57910486 (GRCh38)
                          X:57936920 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:57910485:C:A
                          Gene:
                          ZXDA (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1488716827 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            X:57909670 (GRCh38)
                            X:57936104 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:57909669:C:A
                            Gene:
                            ZXDA (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.00001/1 (GnomAD)
                            A=0.000015/4 (TOPMED)
                            HGVS:
                            14.

                            rs1488381846 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              X:57908056 (GRCh38)
                              X:57934490 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:57908055:G:C
                              Gene:
                              ZXDA (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              G=0./0 (SGDP_PRJ)
                              C=0.000006/1 (GnomAD_exomes)
                              C=0.000015/4 (TOPMED)
                              C=0.000019/2 (GnomAD)
                              HGVS:
                              15.

                              rs1488349795 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                X:57909148 (GRCh38)
                                X:57935582 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:57909147:G:A
                                Gene:
                                ZXDA (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000011/2 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1488267287 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  X:57904532 (GRCh38)
                                  X:57930966 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:57904531:C:T
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.00001/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1487475376 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    X:57909009 (GRCh38)
                                    X:57935443 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:57909008:T:C
                                    Gene:
                                    ZXDA (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.00001/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1486904271 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      X:57913415 (GRCh38)
                                      X:57939849 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:57913414:C:G
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1486649244 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        X:57904202 (GRCh38)
                                        X:57930636 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:57904201:A:T
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        T=0.00001/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1486507391 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          X:57911269 (GRCh38)
                                          X:57937703 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:57911268:T:C
                                          Gene:
                                          ZXDA (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.00001/1 (GnomAD)
                                          HGVS:

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