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Items: 1 to 20 of 706

1.

rs1491517475 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->AG,TG [Show Flanks]
    Chromosome:
    11:122100661 (GRCh38)
    11:121971370 (GRCh37)
    Canonical SPDI:
    NC_000011.10:122100661:G:GAG,NC_000011.10:122100661:G:GTG
    Gene:
    MIR100HG (Varview), MIR125B1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    GTG=0./0 (ALFA)
    GT=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491507032 has merged into rs376231044 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GGGGGG>-,G,GG,GGG,GGGG,GGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGGGGG [Show Flanks]
      Chromosome:
      11:122100669 (GRCh38)
      11:121971377 (GRCh37)
      Canonical SPDI:
      NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG
      Gene:
      MIR100HG (Varview), MIR125B1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GGGGGGGGG=0./0 (ALFA)
      HGVS:
      NC_000011.10:g.122100669_122100674del, NC_000011.10:g.122100670_122100674del, NC_000011.10:g.122100671_122100674del, NC_000011.10:g.122100672_122100674del, NC_000011.10:g.122100673_122100674del, NC_000011.10:g.122100674del, NC_000011.10:g.122100674dup, NC_000011.10:g.122100673_122100674dup, NC_000011.10:g.122100672_122100674dup, NC_000011.10:g.122100671_122100674dup, NC_000011.10:g.122100670_122100674dup, NC_000011.10:g.122100666_122100674dup, NC_000011.9:g.121971377_121971382del, NC_000011.9:g.121971378_121971382del, NC_000011.9:g.121971379_121971382del, NC_000011.9:g.121971380_121971382del, NC_000011.9:g.121971381_121971382del, NC_000011.9:g.121971382del, NC_000011.9:g.121971382dup, NC_000011.9:g.121971381_121971382dup, NC_000011.9:g.121971380_121971382dup, NC_000011.9:g.121971379_121971382dup, NC_000011.9:g.121971378_121971382dup, NC_000011.9:g.121971374_121971382dup, NR_137176.1:n.181_186del, NR_137176.1:n.182_186del, NR_137176.1:n.183_186del, NR_137176.1:n.184_186del, NR_137176.1:n.185_186del, NR_137176.1:n.186del, NR_137176.1:n.186dup, NR_137176.1:n.185_186dup, NR_137176.1:n.184_186dup, NR_137176.1:n.183_186dup, NR_137176.1:n.182_186dup, NR_137176.1:n.178_186dup, NR_137177.1:n.181_186del, NR_137177.1:n.182_186del, NR_137177.1:n.183_186del, NR_137177.1:n.184_186del, NR_137177.1:n.185_186del, NR_137177.1:n.186del, NR_137177.1:n.186dup, NR_137177.1:n.185_186dup, NR_137177.1:n.184_186dup, NR_137177.1:n.183_186dup, NR_137177.1:n.182_186dup, NR_137177.1:n.178_186dup, NR_137178.1:n.181_186del, NR_137178.1:n.182_186del, NR_137178.1:n.183_186del, NR_137178.1:n.184_186del, NR_137178.1:n.185_186del, NR_137178.1:n.186del, NR_137178.1:n.186dup, NR_137178.1:n.185_186dup, NR_137178.1:n.184_186dup, NR_137178.1:n.183_186dup, NR_137178.1:n.182_186dup, NR_137178.1:n.178_186dup
      3.

      rs1491207125 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        11:122100659 (GRCh38)
        11:121971368 (GRCh37)
        Canonical SPDI:
        NC_000011.10:122100659:C:CC
        Gene:
        MIR100HG (Varview), MIR125B1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CC=0./0 (ALFA)
        C=0.00022/3 (TOMMO)
        C=0.00026/7 (GnomAD)
        HGVS:
        4.

        rs1488504873 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          11:122101097 (GRCh38)
          11:121971805 (GRCh37)
          Canonical SPDI:
          NC_000011.10:122101096:G:A
          Gene:
          MIR100HG (Varview), MIR125B1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,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=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1487143222 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            11:122100392 (GRCh38)
            11:121971100 (GRCh37)
            Canonical SPDI:
            NC_000011.10:122100391:G:T
            Gene:
            MIR100HG (Varview), MIR125B1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1487096997 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->T [Show Flanks]
              Chromosome:
              11:122100668 (GRCh38)
              11:121971377 (GRCh37)
              Canonical SPDI:
              NC_000011.10:122100668::T
              Gene:
              MIR100HG (Varview), MIR125B1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.00031/5 (ALFA)
              HGVS:
              7.

              rs1486675781 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->T [Show Flanks]
                Chromosome:
                11:122100698 (GRCh38)
                11:121971407 (GRCh37)
                Canonical SPDI:
                NC_000011.10:122100698:TTTTT:TTTTTT
                Gene:
                MIR100HG (Varview), MIR125B1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                TTTTTT=0./0 (ALFA)
                T=0.000047/6 (GnomAD)
                HGVS:
                8.

                rs1485857738 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GA>- [Show Flanks]
                  Chromosome:
                  11:122101743 (GRCh38)
                  11:121972451 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:122101734:GAGAGAGAGA:GAGAGAGA
                  Gene:
                  MIR100HG (Varview), MIR125B1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  GAGAGAGA=0.000071/1 (ALFA)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1485788004 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    11:122101684 (GRCh38)
                    11:121972392 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:122101683:A:G,NC_000011.10:122101683:A:T
                    Gene:
                    MIR100HG (Varview), MIR125B1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000057/15 (TOPMED)
                    T=0.000057/8 (GnomAD)
                    HGVS:
                    10.

                    rs1485493486 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->AG [Show Flanks]
                      Chromosome:
                      11:122100663 (GRCh38)
                      11:121971372 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:122100663:G:GAG
                      Gene:
                      MIR100HG (Varview), MIR125B1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      GAG=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1485008366 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        11:122100765 (GRCh38)
                        11:121971473 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:122100764:T:A
                        Gene:
                        MIR100HG (Varview), MIR125B1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1484676417 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C [Show Flanks]
                          Chromosome:
                          11:122099305 (GRCh38)
                          11:121970013 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:122099304:T:A,NC_000011.10:122099304:T:C
                          Gene:
                          MIR100HG (Varview), MIR125B1 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,intron_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1483860538 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            11:122101479 (GRCh38)
                            11:121972187 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:122101478:T:C
                            Gene:
                            MIR100HG (Varview), MIR125B1 (Varview)
                            Functional Consequence:
                            intron_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1482768665 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              11:122100982 (GRCh38)
                              11:121971690 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:122100981:T:C
                              Gene:
                              MIR100HG (Varview), MIR125B1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1481277602 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:122100460 (GRCh38)
                                11:121971168 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:122100459:C:T
                                Gene:
                                MIR100HG (Varview), MIR125B1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/1 (GnomAD)
                                HGVS:
                                16.

                                rs1481262273 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  11:122100658 (GRCh38)
                                  11:121971366 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:122100657:G:A
                                  Gene:
                                  MIR100HG (Varview), MIR125B1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.00004/1 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1479892945 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    11:122099534 (GRCh38)
                                    11:121970242 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:122099533:C:G,NC_000011.10:122099533:C:T
                                    Gene:
                                    MIR100HG (Varview), MIR125B1 (Varview)
                                    Functional Consequence:
                                    intron_variant,downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1478974190 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      11:122101514 (GRCh38)
                                      11:121972222 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:122101513:C:G,NC_000011.10:122101513:C:T
                                      Gene:
                                      MIR100HG (Varview), MIR125B1 (Varview)
                                      Functional Consequence:
                                      intron_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1478580488 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        11:122100766 (GRCh38)
                                        11:121971474 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:122100765:C:G,NC_000011.10:122100765:C:T
                                        Gene:
                                        MIR100HG (Varview), MIR125B1 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1477994520 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          11:122101195 (GRCh38)
                                          11:121971903 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:122101194:A:G
                                          Gene:
                                          MIR100HG (Varview), MIR125B1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000019/5 (TOPMED)
                                          HGVS:

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