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Items: 1 to 20 of 486

1.

rs1490566262 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    X:77005700 (GRCh38)
    X:76226125 (GRCh37)
    Canonical SPDI:
    NC_000023.11:77005699:G:A,NC_000023.11:77005699:G:T
    Gene:
    MIR325 (Varview), MIR325HG (Varview)
    Functional Consequence:
    intron_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    HGVS:
    2.

    rs1490283203 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      X:77005024 (GRCh38)
      X:76225449 (GRCh37)
      Canonical SPDI:
      NC_000023.11:77005023:G:A
      Gene:
      MIR325 (Varview), MIR325HG (Varview)
      Functional Consequence:
      intron_variant,500B_downstream_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000019/2 (GnomAD)
      A=0.000019/5 (TOPMED)
      HGVS:
      3.

      rs1490100729 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        X:77006069 (GRCh38)
        X:76226494 (GRCh37)
        Canonical SPDI:
        NC_000023.11:77006068:T:A
        Gene:
        MIR325 (Varview), MIR325HG (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1489792187 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          X:77005600 (GRCh38)
          X:76226025 (GRCh37)
          Canonical SPDI:
          NC_000023.11:77005599:A:G
          Gene:
          MIR325 (Varview), MIR325HG (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1488810918 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            X:77006690 (GRCh38)
            X:76227115 (GRCh37)
            Canonical SPDI:
            NC_000023.11:77006689:T:A
            Gene:
            MIR325 (Varview), MIR325HG (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.00001/1 (GnomAD)
            HGVS:
            6.

            rs1485551006 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              X:77005710 (GRCh38)
              X:76226135 (GRCh37)
              Canonical SPDI:
              NC_000023.11:77005709:G:A
              Gene:
              MIR325 (Varview), MIR325HG (Varview)
              Functional Consequence:
              intron_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              A=0.00001/1 (GnomAD)
              HGVS:
              7.

              rs1484664040 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                X:77005143 (GRCh38)
                X:76225568 (GRCh37)
                Canonical SPDI:
                NC_000023.11:77005142:T:C
                Gene:
                MIR325 (Varview), MIR325HG (Varview)
                Functional Consequence:
                intron_variant,500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                HGVS:
                8.

                rs1483569879 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  X:77006394 (GRCh38)
                  X:76226819 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:77006393:T:C
                  Gene:
                  MIR325 (Varview), MIR325HG (Varview)
                  Functional Consequence:
                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.00001/1 (GnomAD)
                  C=0.000019/5 (TOPMED)
                  HGVS:
                  9.

                  rs1483208225 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    X:77007030 (GRCh38)
                    X:76227455 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:77007029:G:A
                    Gene:
                    MIR325 (Varview), MIR325HG (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1481267266 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      X:77005763 (GRCh38)
                      X:76226188 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:77005762:C:A
                      Gene:
                      MIR325 (Varview), MIR325HG (Varview)
                      Functional Consequence:
                      intron_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.00001/1 (GnomAD)
                      HGVS:
                      11.

                      rs1480437299 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TGTT>- [Show Flanks]
                        Chromosome:
                        X:77005133 (GRCh38)
                        X:76225558 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:77005128:TGTTTGTT:TGTT
                        Gene:
                        MIR325 (Varview), MIR325HG (Varview)
                        Functional Consequence:
                        intron_variant,500B_downstream_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TGTTTGTT=0./0 (ALFA)
                        -=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1480284229 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          X:77006224 (GRCh38)
                          X:76226649 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:77006223:A:G
                          Gene:
                          MIR325 (Varview), MIR325HG (Varview)
                          Functional Consequence:
                          intron_variant,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:
                          13.

                          rs1480273190 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            X:77005425 (GRCh38)
                            X:76225850 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:77005424:G:A
                            Gene:
                            MIR325 (Varview), MIR325HG (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1479887073 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              X:77006165 (GRCh38)
                              X:76226590 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:77006164:A:T
                              Gene:
                              MIR325 (Varview), MIR325HG (Varview)
                              Functional Consequence:
                              intron_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.00001/1 (GnomAD)
                              HGVS:
                              15.

                              rs1479416998 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                X:77005672 (GRCh38)
                                X:76226097 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:77005671:G:A,NC_000023.11:77005671:G:T
                                Gene:
                                MIR325 (Varview), MIR325HG (Varview)
                                Functional Consequence:
                                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000216/4 (ALFA)
                                A=0.000048/5 (GnomAD)
                                HGVS:
                                16.

                                rs1479353130 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  X:77006650 (GRCh38)
                                  X:76227075 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:77006649:A:G
                                  Gene:
                                  MIR325 (Varview), MIR325HG (Varview)
                                  Functional Consequence:
                                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1476191553 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G,T [Show Flanks]
                                    Chromosome:
                                    X:77005295 (GRCh38)
                                    X:76225720 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:77005294:C:A,NC_000023.11:77005294:C:G,NC_000023.11:77005294:C:T
                                    Gene:
                                    MIR325 (Varview), MIR325HG (Varview)
                                    Functional Consequence:
                                    intron_variant,500B_downstream_variant,downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    T=0.00001/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1474258201 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      X:77006238 (GRCh38)
                                      X:76226663 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:77006237:G:C
                                      Gene:
                                      MIR325 (Varview), MIR325HG (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000019/2 (GnomAD)
                                      C=0.000045/1 (TOMMO)
                                      C=0.000121/32 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1474093007 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        X:77007121 (GRCh38)
                                        X:76227546 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:77007120:G:T
                                        Gene:
                                        MIR325 (Varview), MIR325HG (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1473243111 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          X:77006147 (GRCh38)
                                          X:76226572 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:77006146:T:A
                                          Gene:
                                          MIR325 (Varview), MIR325HG (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.00001/1 (GnomAD)
                                          HGVS:

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