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Items: 1 to 20 of 821

1.

rs1490995174 has merged into rs747858648 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    X:136639226 (GRCh38)
    X:135721385 (GRCh37)
    Canonical SPDI:
    NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    LINC00892 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000023.11:g.136639226_136639238del, NC_000023.11:g.136639227_136639238del, NC_000023.11:g.136639228_136639238del, NC_000023.11:g.136639229_136639238del, NC_000023.11:g.136639230_136639238del, NC_000023.11:g.136639231_136639238del, NC_000023.11:g.136639232_136639238del, NC_000023.11:g.136639233_136639238del, NC_000023.11:g.136639234_136639238del, NC_000023.11:g.136639235_136639238del, NC_000023.11:g.136639236_136639238del, NC_000023.11:g.136639237_136639238del, NC_000023.11:g.136639238del, NC_000023.11:g.136639238dup, NC_000023.11:g.136639237_136639238dup, NC_000023.11:g.136639236_136639238dup, NC_000023.11:g.136639235_136639238dup, NC_000023.11:g.136639234_136639238dup, NC_000023.11:g.136639233_136639238dup, NC_000023.11:g.136639224_136639238dup, NC_000023.11:g.136639238_136639239insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.135721385_135721397del, NC_000023.10:g.135721386_135721397del, NC_000023.10:g.135721387_135721397del, NC_000023.10:g.135721388_135721397del, NC_000023.10:g.135721389_135721397del, NC_000023.10:g.135721390_135721397del, NC_000023.10:g.135721391_135721397del, NC_000023.10:g.135721392_135721397del, NC_000023.10:g.135721393_135721397del, NC_000023.10:g.135721394_135721397del, NC_000023.10:g.135721395_135721397del, NC_000023.10:g.135721396_135721397del, NC_000023.10:g.135721397del, NC_000023.10:g.135721397dup, NC_000023.10:g.135721396_135721397dup, NC_000023.10:g.135721395_135721397dup, NC_000023.10:g.135721394_135721397dup, NC_000023.10:g.135721393_135721397dup, NC_000023.10:g.135721392_135721397dup, NC_000023.10:g.135721383_135721397dup, NC_000023.10:g.135721397_135721398insAAAAAAAAAAAAAAAAAAAAAAAAAA
    2.

    rs1489229224 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      X:136641168 (GRCh38)
      X:135723327 (GRCh37)
      Canonical SPDI:
      NC_000023.11:136641167:A:C
      Gene:
      LINC00892 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      HGVS:
      3.

      rs1488566397 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        X:136641229 (GRCh38)
        X:135723388 (GRCh37)
        Canonical SPDI:
        NC_000023.11:136641228:G:A,NC_000023.11:136641228:G:T
        Gene:
        LINC00892 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        A=0.00001/1 (GnomAD)
        HGVS:
        4.

        rs1488262275 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          X:136637846 (GRCh38)
          X:135720005 (GRCh37)
          Canonical SPDI:
          NC_000023.11:136637845:T:C
          Gene:
          LINC00892 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.00001/1 (GnomAD)
          HGVS:
          5.

          rs1486722722 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            X:136639593 (GRCh38)
            X:135721752 (GRCh37)
            Canonical SPDI:
            NC_000023.11:136639592:T:C
            Gene:
            LINC00892 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1486569146 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              X:136638797 (GRCh38)
              X:135720956 (GRCh37)
              Canonical SPDI:
              NC_000023.11:136638796:G:A
              Gene:
              LINC00892 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000029/3 (GnomAD)
              A=0.000083/22 (TOPMED)
              HGVS:
              7.

              rs1486484802 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->CTTCT,CTTCTAAG [Show Flanks]
                Chromosome:
                X:136639285 (GRCh38)
                X:135721445 (GRCh37)
                Canonical SPDI:
                NC_000023.11:136639285::CTTCT,NC_000023.11:136639285::CTTCTAAG
                Gene:
                LINC00892 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                CTTCTAAG=0./0 (ALFA)
                CTTCT=0.000259/26 (GnomAD)
                HGVS:
                8.

                rs1485939132 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  X:136638222 (GRCh38)
                  X:135720381 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:136638221:A:T
                  Gene:
                  LINC00892 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.00001/1 (GnomAD)
                  HGVS:
                  9.

                  rs1485144934 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    X:136641386 (GRCh38)
                    X:135723545 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:136641385:T:A,NC_000023.11:136641385:T:C
                    Gene:
                    LINC00892 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0./0 (KOREAN)
                    HGVS:
                    10.

                    rs1484423782 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      X:136642534 (GRCh38)
                      X:135724693 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:136642533:C:T
                      Gene:
                      LINC00892 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.00001/1 (GnomAD)
                      HGVS:
                      11.

                      rs1483723537 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        X:136639570 (GRCh38)
                        X:135721729 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:136639569:G:C
                        Gene:
                        LINC00892 (Varview)
                        Functional Consequence:
                        non_coding_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:
                        12.

                        rs1483592898 has merged into rs747858648 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                          Chromosome:
                          X:136639226 (GRCh38)
                          X:135721385 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:136639214:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                          Gene:
                          LINC00892 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAAAAA=0./0 (ALFA)
                          HGVS:
                          NC_000023.11:g.136639226_136639238del, NC_000023.11:g.136639227_136639238del, NC_000023.11:g.136639228_136639238del, NC_000023.11:g.136639229_136639238del, NC_000023.11:g.136639230_136639238del, NC_000023.11:g.136639231_136639238del, NC_000023.11:g.136639232_136639238del, NC_000023.11:g.136639233_136639238del, NC_000023.11:g.136639234_136639238del, NC_000023.11:g.136639235_136639238del, NC_000023.11:g.136639236_136639238del, NC_000023.11:g.136639237_136639238del, NC_000023.11:g.136639238del, NC_000023.11:g.136639238dup, NC_000023.11:g.136639237_136639238dup, NC_000023.11:g.136639236_136639238dup, NC_000023.11:g.136639235_136639238dup, NC_000023.11:g.136639234_136639238dup, NC_000023.11:g.136639233_136639238dup, NC_000023.11:g.136639224_136639238dup, NC_000023.11:g.136639238_136639239insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.135721385_135721397del, NC_000023.10:g.135721386_135721397del, NC_000023.10:g.135721387_135721397del, NC_000023.10:g.135721388_135721397del, NC_000023.10:g.135721389_135721397del, NC_000023.10:g.135721390_135721397del, NC_000023.10:g.135721391_135721397del, NC_000023.10:g.135721392_135721397del, NC_000023.10:g.135721393_135721397del, NC_000023.10:g.135721394_135721397del, NC_000023.10:g.135721395_135721397del, NC_000023.10:g.135721396_135721397del, NC_000023.10:g.135721397del, NC_000023.10:g.135721397dup, NC_000023.10:g.135721396_135721397dup, NC_000023.10:g.135721395_135721397dup, NC_000023.10:g.135721394_135721397dup, NC_000023.10:g.135721393_135721397dup, NC_000023.10:g.135721392_135721397dup, NC_000023.10:g.135721383_135721397dup, NC_000023.10:g.135721397_135721398insAAAAAAAAAAAAAAAAAAAAAAAAAA
                          13.

                          rs1482621486 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            X:136638656 (GRCh38)
                            X:135720815 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:136638655:T:C
                            Gene:
                            LINC00892 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.00001/1 (GnomAD)
                            HGVS:
                            14.

                            rs1482615443 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              X:136638579 (GRCh38)
                              X:135720738 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:136638578:T:C
                              Gene:
                              LINC00892 (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=0.000019/2 (GnomAD)
                              HGVS:
                              15.

                              rs1481765307 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                X:136638373 (GRCh38)
                                X:135720532 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:136638372:A:T
                                Gene:
                                LINC00892 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000019/2 (GnomAD)
                                HGVS:
                                16.

                                rs1481703007 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  X:136639234 (GRCh38)
                                  X:135721393 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:136639233:A:C
                                  Gene:
                                  LINC00892 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000059/6 (GnomAD)
                                  C=0.000076/20 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1481600639 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    X:136637889 (GRCh38)
                                    X:135720048 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:136637888:G:A,NC_000023.11:136637888:G:T
                                    Gene:
                                    LINC00892 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    T=0.000045/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1481241582 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      X:136639160 (GRCh38)
                                      X:135721319 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:136639159:G:A
                                      Gene:
                                      LINC00892 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.00001/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1480041716 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        X:136641088 (GRCh38)
                                        X:135723247 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:136641087:C:G
                                        Gene:
                                        LINC00892 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1479318235 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          X:136640579 (GRCh38)
                                          X:135722738 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:136640578:G:A
                                          Gene:
                                          LINC00892 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.00002/2 (GnomAD)
                                          HGVS:

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