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Items: 1 to 20 of 1000

1.

rs1490322076 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    X:120250012 (GRCh38)
    X:119383867 (GRCh37)
    Canonical SPDI:
    NC_000023.11:120250011:A:G
    Gene:
    ZBTB33 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    G=0.000019/2 (GnomAD)
    HGVS:
    2.

    rs1489587328 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      X:120254687 (GRCh38)
      X:119388542 (GRCh37)
      Canonical SPDI:
      NC_000023.11:120254686:T:C
      Gene:
      ZBTB33 (Varview), TMEM255A (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.00001/1 (GnomAD)
      HGVS:
      3.

      rs1489556279 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CT>- [Show Flanks]
        Chromosome:
        X:120252672 (GRCh38)
        X:119386527 (GRCh37)
        Canonical SPDI:
        NC_000023.11:120252670:TCT:T
        Gene:
        ZBTB33 (Varview), TMEM255A (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        -=0.00004/1 (TOMMO)
        HGVS:
        4.

        rs1488043962 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          X:120258583 (GRCh38)
          X:119392438 (GRCh37)
          Canonical SPDI:
          NC_000023.11:120258582:G:A
          Gene:
          ZBTB33 (Varview), TMEM255A (Varview)
          Functional Consequence:
          intron_variant,500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000023/6 (TOPMED)
          HGVS:
          5.

          rs1487589160 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            X:120251220 (GRCh38)
            X:119385075 (GRCh37)
            Canonical SPDI:
            NC_000023.11:120251219:C:T
            Gene:
            ZBTB33 (Varview), TMEM255A (Varview)
            Functional Consequence:
            intron_variant,500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0.00014/2 (ALFA)
            HGVS:
            6.

            rs1486373066 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G [Show Flanks]
              Chromosome:
              X:120258749 (GRCh38)
              X:119392604 (GRCh37)
              Canonical SPDI:
              NC_000023.11:120258748:A:C,NC_000023.11:120258748:A:G
              Gene:
              ZBTB33 (Varview), TMEM255A (Varview)
              Functional Consequence:
              intron_variant,downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              HGVS:
              7.

              rs1486341941 has merged into rs1280467001 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                A>-,AA [Show Flanks]
                Chromosome:
                X:120257084 (GRCh38)
                X:119390939 (GRCh37)
                Canonical SPDI:
                NC_000023.11:120257083:AAAAAAAA:AAAAAAA,NC_000023.11:120257083:AAAAAAAA:AAAAAAAAA
                Gene:
                ZBTB33 (Varview), TMEM255A (Varview)
                Functional Consequence:
                intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAA=0./0 (ALFA)
                -=0.00001/1 (GnomAD)
                -=0.00036/5 (TOMMO)
                HGVS:
                8.

                rs1486312267 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  X:120256516 (GRCh38)
                  X:119390371 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:120256515:C:A
                  Gene:
                  ZBTB33 (Varview), TMEM255A (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1486046460 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    X:120258115 (GRCh38)
                    X:119391970 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:120258114:C:T
                    Gene:
                    ZBTB33 (Varview), TMEM255A (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.00001/1 (GnomAD)
                    HGVS:
                    10.

                    rs1485973037 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      X:120249850 (GRCh38)
                      X:119383705 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:120249849:T:G
                      Gene:
                      ZBTB33 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1485391377 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        X:120250669 (GRCh38)
                        X:119384524 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:120250668:A:T
                        Gene:
                        ZBTB33 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000019/5 (TOPMED)
                        T=0.000048/5 (GnomAD)
                        HGVS:
                        12.

                        rs1485372920 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          X:120257413 (GRCh38)
                          X:119391268 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:120257412:G:T
                          Gene:
                          ZBTB33 (Varview), TMEM255A (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1485262195 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            X:120255768 (GRCh38)
                            X:119389623 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:120255767:A:G
                            Gene:
                            ZBTB33 (Varview), TMEM255A (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            G=0.00001/1 (GnomAD)
                            HGVS:
                            14.

                            rs1484679734 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              X:120255706 (GRCh38)
                              X:119389561 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:120255705:T:G
                              Gene:
                              ZBTB33 (Varview), TMEM255A (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1484641390 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                X:120253526 (GRCh38)
                                X:119387381 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:120253525:T:C
                                Gene:
                                ZBTB33 (Varview), TMEM255A (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1484413964 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  X:120257289 (GRCh38)
                                  X:119391144 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:120257288:G:A
                                  Gene:
                                  ZBTB33 (Varview), TMEM255A (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1484087515 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTA>- [Show Flanks]
                                    Chromosome:
                                    X:120253325 (GRCh38)
                                    X:119387180 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:120253322:TATTTA:TA
                                    Gene:
                                    ZBTB33 (Varview), TMEM255A (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    TA=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1482752554 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      X:120257913 (GRCh38)
                                      X:119391768 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:120257912:T:C
                                      Gene:
                                      ZBTB33 (Varview), TMEM255A (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000038/10 (TOPMED)
                                      C=0.000038/4 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1482113062 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        X:120251628 (GRCh38)
                                        X:119385483 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:120251627:G:A
                                        Gene:
                                        ZBTB33 (Varview), TMEM255A (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.00001/1 (GnomAD)
                                        A=0.000026/7 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1481264358 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          X:120250206 (GRCh38)
                                          X:119384061 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:120250205:A:G
                                          Gene:
                                          ZBTB33 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000011/3 (TOPMED)
                                          HGVS:

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