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Items: 1 to 20 of 4234

1.

rs1491431673 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    X:39391377 (GRCh38)
    X:39250631 (GRCh37)
    Canonical SPDI:
    NC_000023.11:39391376:CA:
    Gene:
    LINC01282 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00017/2 (ALFA)
    -=0.00007/4 (GnomAD)
    HGVS:
    2.

    rs1491251551 has merged into rs5902227 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TT>-,T,TTT,TTTCTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      X:39382565 (GRCh38)
      X:39241819 (GRCh37)
      Canonical SPDI:
      NC_000023.11:39382554:TTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:39382554:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:39382554:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:39382554:TTTTTTTTTTTT:TTTTTTTTTTTTTCTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:39382554:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:39382554:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:39382554:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:39382554:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:39382554:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      LINC01282 (Varview), LOC105373176 (Varview)
      Functional Consequence:
      intron_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTT=0./0 (ALFA)
      -=0.425/17 (GENOME_DK)
      T=0.4307/1626 (1000Genomes)
      HGVS:
      3.

      rs1491200602 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        X:39382555 (GRCh38)
        X:39241810 (GRCh37)
        Canonical SPDI:
        NC_000023.11:39382555::C
        Gene:
        LINC01282 (Varview), LOC105373176 (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant
        HGVS:
        4.

        rs1491166949 has merged into rs35085287 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAA>-,A,AA,AAAA [Show Flanks]
          Chromosome:
          X:39391386 (GRCh38)
          X:39250640 (GRCh37)
          Canonical SPDI:
          NC_000023.11:39391377:AAAAAAAAAAA:AAAAAAAA,NC_000023.11:39391377:AAAAAAAAAAA:AAAAAAAAA,NC_000023.11:39391377:AAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:39391377:AAAAAAAAAAA:AAAAAAAAAAAA
          Gene:
          LINC01282 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAA=0./0 (ALFA)
          AA=0.2708/13 (Vietnamese)
          -=0.425/17 (GENOME_DK)
          -=0.4441/1283 (ALSPAC)
          -=0.4606/1708 (TWINSUK)
          HGVS:
          5.

          rs1490486302 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            X:39367414 (GRCh38)
            X:39226668 (GRCh37)
            Canonical SPDI:
            NC_000023.11:39367413:A:G
            Gene:
            LINC01282 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000084/1 (ALFA)
            G=0.000008/2 (TOPMED)
            G=0.00001/1 (GnomAD)
            G=0.000495/6 (TOMMO)
            HGVS:
            6.

            rs1490398461 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              X:39384511 (GRCh38)
              X:39243765 (GRCh37)
              Canonical SPDI:
              NC_000023.11:39384510:C:T
              Gene:
              LINC01282 (Varview), LOC105373176 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000019/2 (GnomAD)
              HGVS:
              7.

              rs1490356371 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                X:39389878 (GRCh38)
                X:39249132 (GRCh37)
                Canonical SPDI:
                NC_000023.11:39389877:C:T
                Gene:
                LINC01282 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1490261471 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  C>- [Show Flanks]
                  Chromosome:
                  X:39382567 (GRCh38)
                  X:39241821 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:39382566:C:
                  Gene:
                  LINC01282 (Varview), LOC105373176 (Varview)
                  Functional Consequence:
                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                  HGVS:
                  9.

                  rs1490226180 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    X:39369534 (GRCh38)
                    X:39228788 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:39369533:C:T
                    Gene:
                    LINC01282 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490192383 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      X:39390604 (GRCh38)
                      X:39249858 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:39390603:C:T
                      Gene:
                      LINC01282 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1489814997 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        X:39391975 (GRCh38)
                        X:39251229 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:39391974:T:C
                        Gene:
                        LINC01282 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.00001/1 (GnomAD)
                        C=0.000034/9 (TOPMED)
                        HGVS:
                        12.

                        rs1489792542 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          X:39380299 (GRCh38)
                          X:39239553 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:39380298:T:C
                          Gene:
                          LINC01282 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.00001/1 (GnomAD)
                          HGVS:
                          13.

                          rs1489772058 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            GCATGGA>- [Show Flanks]
                            Chromosome:
                            X:39374008 (GRCh38)
                            X:39233262 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:39374007:GCATGGA:
                            Gene:
                            LINC01282 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0.0009/4 (ALFA)
                            HGVS:
                            14.

                            rs1489719586 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              X:39381750 (GRCh38)
                              X:39241004 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:39381749:T:C
                              Gene:
                              LINC01282 (Varview), LOC105373176 (Varview)
                              Functional Consequence:
                              intron_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.000142/2 (ALFA)
                              C=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1489328578 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                X:39392157 (GRCh38)
                                X:39251411 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:39392156:A:G
                                Gene:
                                LINC01282 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1489219548 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  X:39368887 (GRCh38)
                                  X:39228141 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:39368886:A:C
                                  Gene:
                                  LINC01282 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000026/7 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489174883 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    X:39375887 (GRCh38)
                                    X:39235141 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:39375886:C:T
                                    Gene:
                                    LINC01282 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.00001/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489024840 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      X:39370336 (GRCh38)
                                      X:39229590 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:39370335:A:G
                                      Gene:
                                      LINC01282 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1488956863 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        X:39391312 (GRCh38)
                                        X:39250566 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:39391311:G:A
                                        Gene:
                                        LINC01282 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.00001/1 (GnomAD)
                                        A=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1488839562 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C,G [Show Flanks]
                                          Chromosome:
                                          X:39390651 (GRCh38)
                                          X:39249905 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:39390650:T:C,NC_000023.11:39390650:T:G
                                          Gene:
                                          LINC01282 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

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