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Items: 1 to 20 of 1065

1.

rs1491063745 has merged into rs36081226 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    X:71105576 (GRCh38)
    X:70325426 (GRCh37)
    Canonical SPDI:
    NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    CXorf65 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000023.11:g.71105576_71105586del, NC_000023.11:g.71105581_71105586del, NC_000023.11:g.71105582_71105586del, NC_000023.11:g.71105583_71105586del, NC_000023.11:g.71105584_71105586del, NC_000023.11:g.71105585_71105586del, NC_000023.11:g.71105586del, NC_000023.11:g.71105586dup, NC_000023.11:g.71105585_71105586dup, NC_000023.11:g.71105584_71105586dup, NC_000023.11:g.71105583_71105586dup, NC_000023.11:g.71105578_71105586dup, NC_000023.10:g.70325426_70325436del, NC_000023.10:g.70325431_70325436del, NC_000023.10:g.70325432_70325436del, NC_000023.10:g.70325433_70325436del, NC_000023.10:g.70325434_70325436del, NC_000023.10:g.70325435_70325436del, NC_000023.10:g.70325436del, NC_000023.10:g.70325436dup, NC_000023.10:g.70325435_70325436dup, NC_000023.10:g.70325434_70325436dup, NC_000023.10:g.70325433_70325436dup, NC_000023.10:g.70325428_70325436dup, NG_009088.1:g.10976_10986del, NG_009088.1:g.10981_10986del, NG_009088.1:g.10982_10986del, NG_009088.1:g.10983_10986del, NG_009088.1:g.10984_10986del, NG_009088.1:g.10985_10986del, NG_009088.1:g.10986del, NG_009088.1:g.10986dup, NG_009088.1:g.10985_10986dup, NG_009088.1:g.10984_10986dup, NG_009088.1:g.10983_10986dup, NG_009088.1:g.10978_10986dup, NG_021141.1:g.6211_6221del, NG_021141.1:g.6216_6221del, NG_021141.1:g.6217_6221del, NG_021141.1:g.6218_6221del, NG_021141.1:g.6219_6221del, NG_021141.1:g.6220_6221del, NG_021141.1:g.6221del, NG_021141.1:g.6221dup, NG_021141.1:g.6220_6221dup, NG_021141.1:g.6219_6221dup, NG_021141.1:g.6218_6221dup, NG_021141.1:g.6213_6221dup
    2.

    rs1490917749 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      X:71105060 (GRCh38)
      X:70324910 (GRCh37)
      Canonical SPDI:
      NC_000023.11:71105059:C:T
      Gene:
      CXorf65 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000008/2 (TOPMED)
      T=0.00001/1 (GnomAD)
      HGVS:
      3.

      rs1490891895 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        X:71106673 (GRCh38)
        X:70326523 (GRCh37)
        Canonical SPDI:
        NC_000023.11:71106672:A:T
        Gene:
        CXorf65 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000008/2 (TOPMED)
        T=0.000019/2 (GnomAD)
        HGVS:
        4.

        rs1489729751 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          X:71105572 (GRCh38)
          X:70325422 (GRCh37)
          Canonical SPDI:
          NC_000023.11:71105571:A:C
          Gene:
          CXorf65 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.00006/4 (GnomAD)
          A=0.5/1 (SGDP_PRJ)
          HGVS:
          5.

          rs1488735972 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            X:71108038 (GRCh38)
            X:70327888 (GRCh37)
            Canonical SPDI:
            NC_000023.11:71108037:A:T
            Gene:
            IL2RG (Varview), CXorf65 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1488694687 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              X:71103723 (GRCh38)
              X:70323573 (GRCh37)
              Canonical SPDI:
              NC_000023.11:71103722:T:C
              Gene:
              FOXO4 (Varview), CXorf65 (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1488140636 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                X:71103523 (GRCh38)
                X:70323373 (GRCh37)
                Canonical SPDI:
                NC_000023.11:71103522:C:G
                Gene:
                FOXO4 (Varview), CXorf65 (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_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.

                rs1486616402 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  X:71108265 (GRCh38)
                  X:70328115 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:71108264:C:G,NC_000023.11:71108264:C:T
                  Gene:
                  IL2RG (Varview), CXorf65 (Varview)
                  Functional Consequence:
                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000106/11 (GnomAD)
                  T=0.000159/42 (TOPMED)
                  HGVS:
                  9.

                  rs1483355955 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    X:71104801 (GRCh38)
                    X:70324651 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:71104800:G:A
                    Gene:
                    CXorf65 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000011/2 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1482657914 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      X:71108556 (GRCh38)
                      X:70328406 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:71108555:A:G
                      Gene:
                      IL2RG (Varview), CXorf65 (Varview)
                      Functional Consequence:
                      intron_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000008/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1482647064 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        X:71106008 (GRCh38)
                        X:70325858 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:71106007:C:T
                        Gene:
                        CXorf65 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000005/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1482505944 has merged into rs1177042619 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TTTTGGTTTTGG>-,TTTTGG,TTTTGGTTTTGGTTTTGG [Show Flanks]
                          Chromosome:
                          X:71105789 (GRCh38)
                          X:70325639 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:71105776:TTTTGGTTTTGGTTTTGGTTTTGG:TTTTGGTTTTGG,NC_000023.11:71105776:TTTTGGTTTTGGTTTTGGTTTTGG:TTTTGGTTTTGGTTTTGG,NC_000023.11:71105776:TTTTGGTTTTGGTTTTGGTTTTGG:TTTTGGTTTTGGTTTTGGTTTTGGTTTTGG
                          Gene:
                          CXorf65 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTGGTTTTGGTTTTGGTTTTGGTTTTGG=0./0 (ALFA)
                          TTTTGG=0.00001/1 (GnomAD)
                          HGVS:
                          13.

                          rs1482311731 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            X:71106594 (GRCh38)
                            X:70326444 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:71106593:A:T
                            Gene:
                            CXorf65 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,5_prime_UTR_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1480600417 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              X:71105171 (GRCh38)
                              X:70325021 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:71105170:G:T
                              Gene:
                              CXorf65 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1480247040 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                X:71103643 (GRCh38)
                                X:70323493 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:71103642:G:C
                                Gene:
                                FOXO4 (Varview), CXorf65 (Varview)
                                Functional Consequence:
                                500B_downstream_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                C=0.00001/1 (GnomAD)
                                HGVS:
                                16.

                                rs1479964742 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  X:71106669 (GRCh38)
                                  X:70326519 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:71106668:A:T
                                  Gene:
                                  CXorf65 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1477728526 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    X:71107352 (GRCh38)
                                    X:70327202 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:71107351:C:G,NC_000023.11:71107351:C:T
                                    Gene:
                                    IL2RG (Varview), CXorf65 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.00033/5 (ALFA)
                                    G=0.00001/1 (GnomAD)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1477495439 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      X:71107702 (GRCh38)
                                      X:70327552 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:71107701:G:A
                                      Gene:
                                      IL2RG (Varview), CXorf65 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                                      HGVS:
                                      19.

                                      rs1477349103 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C [Show Flanks]
                                        Chromosome:
                                        X:71104528 (GRCh38)
                                        X:70324378 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:71104527:T:A,NC_000023.11:71104527:T:C
                                        Gene:
                                        CXorf65 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000019/2 (GnomAD)
                                        C=0.000023/6 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1475615083 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          X:71105488 (GRCh38)
                                          X:70325338 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:71105487:G:A
                                          Gene:
                                          CXorf65 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0./0 (KOREAN)
                                          A=0.00001/1 (GnomAD)
                                          A=0.000011/3 (TOPMED)
                                          HGVS:

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