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Items: 1 to 20 of 11335

1.

rs1491563690 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TA>- [Show Flanks]
    Chromosome:
    18:5785006 (GRCh38)
    18:5785005 (GRCh37)
    Canonical SPDI:
    NC_000018.10:5785005:TA:
    Gene:
    MIR3976HG (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.00001/1 (GnomAD)
    HGVS:
    2.

    rs1491453045 has merged into rs34727160 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
      Chromosome:
      18:5783068 (GRCh38)
      18:5783067 (GRCh37)
      Canonical SPDI:
      NC_000018.10:5783057:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:5783057:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:5783057:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:5783057:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:5783057:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:5783057:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:5783057:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
      Gene:
      MIR3976HG (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAAAAAA=0./0 (ALFA)
      HGVS:
      3.

      rs1491412488 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->G [Show Flanks]
        Chromosome:
        18:5748263 (GRCh38)
        18:5748263 (GRCh37)
        Canonical SPDI:
        NC_000018.10:5748263::G
        Gene:
        MIR3976HG (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.00004/2 (GnomAD)
        HGVS:
        4.

        rs1491156020 has merged into rs370345891 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          18:5785016 (GRCh38)
          18:5785015 (GRCh37)
          Canonical SPDI:
          NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          MIR3976HG (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAA=0./0 (ALFA)
          -=0.000079/21 (TOPMED)
          -=0.275/11 (GENOME_DK)
          HGVS:
          NC_000018.10:g.5785016_5785023del, NC_000018.10:g.5785018_5785023del, NC_000018.10:g.5785019_5785023del, NC_000018.10:g.5785020_5785023del, NC_000018.10:g.5785021_5785023del, NC_000018.10:g.5785022_5785023del, NC_000018.10:g.5785023del, NC_000018.10:g.5785023dup, NC_000018.10:g.5785022_5785023dup, NC_000018.10:g.5785021_5785023dup, NC_000018.10:g.5785020_5785023dup, NC_000018.10:g.5785019_5785023dup, NC_000018.10:g.5785017_5785023dup, NC_000018.10:g.5785016_5785023dup, NC_000018.10:g.5785015_5785023dup, NC_000018.10:g.5785014_5785023dup, NC_000018.10:g.5785013_5785023dup, NC_000018.10:g.5785012_5785023dup, NC_000018.10:g.5785011_5785023dup, NC_000018.10:g.5785007_5785023dup, NC_000018.10:g.5785023_5785024insAAAAAAAAAAAAAAAAAA, NC_000018.10:g.5785023_5785024insAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.5785023_5785024insAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.5785023_5785024insAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.5785015_5785022del, NC_000018.9:g.5785017_5785022del, NC_000018.9:g.5785018_5785022del, NC_000018.9:g.5785019_5785022del, NC_000018.9:g.5785020_5785022del, NC_000018.9:g.5785021_5785022del, NC_000018.9:g.5785022del, NC_000018.9:g.5785022dup, NC_000018.9:g.5785021_5785022dup, NC_000018.9:g.5785020_5785022dup, NC_000018.9:g.5785019_5785022dup, NC_000018.9:g.5785018_5785022dup, NC_000018.9:g.5785016_5785022dup, NC_000018.9:g.5785015_5785022dup, NC_000018.9:g.5785014_5785022dup, NC_000018.9:g.5785013_5785022dup, NC_000018.9:g.5785012_5785022dup, NC_000018.9:g.5785011_5785022dup, NC_000018.9:g.5785010_5785022dup, NC_000018.9:g.5785006_5785022dup, NC_000018.9:g.5785022_5785023insAAAAAAAAAAAAAAAAAA, NC_000018.9:g.5785022_5785023insAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.5785022_5785023insAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.5785022_5785023insAAAAAAAAAAAAAAAAAAAAA
          5.

          rs1491077170 has merged into rs557155872 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            18:5788699 (GRCh38)
            18:5788698 (GRCh37)
            Canonical SPDI:
            NC_000018.10:5788685:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:5788685:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:5788685:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:5788685:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:5788685:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:5788685:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:5788685:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:5788685:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            MIR3976HG (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
            -=0.12667/76 (NorthernSweden)
            -=0.375/15 (GENOME_DK)
            HGVS:
            6.

            rs1490954407 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              18:5749463 (GRCh38)
              18:5749462 (GRCh37)
              Canonical SPDI:
              NC_000018.10:5749462:C:G
              Gene:
              MIR3976HG (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490948511 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GACTATATATAT>- [Show Flanks]
                Chromosome:
                18:5779370 (GRCh38)
                18:5779369 (GRCh37)
                Canonical SPDI:
                NC_000018.10:5779350:TATATATGACTATATATATGACTATATATAT:TATATATGACTATATATAT
                Gene:
                MIR3976HG (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TATATATGACTATATATAT=0.00059/7 (ALFA)
                -=0.000774/107 (GnomAD)
                -=0.000869/230 (TOPMED)
                HGVS:
                8.

                rs1490897797 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  18:5750409 (GRCh38)
                  18:5750408 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:5750408:G:A
                  Gene:
                  MIR3976HG (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490870110 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    18:5765285 (GRCh38)
                    18:5765284 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:5765284:G:A
                    Gene:
                    MIR3976HG (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490803287 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->C [Show Flanks]
                      Chromosome:
                      18:5778904 (GRCh38)
                      18:5778904 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:5778904:C:CC
                      Gene:
                      MIR3976HG (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CC=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490772777 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        18:5779714 (GRCh38)
                        18:5779713 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:5779713:C:G
                        Gene:
                        MIR3976HG (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490749410 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          18:5795504 (GRCh38)
                          18:5795503 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:5795503:T:C
                          Gene:
                          MIR3976HG (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1490634055 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            18:5771716 (GRCh38)
                            18:5771715 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:5771715:T:C
                            Gene:
                            MIR3976HG (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490609889 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              AG>- [Show Flanks]
                              Chromosome:
                              18:5757988 (GRCh38)
                              18:5757987 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:5757987:AG:
                              Gene:
                              MIR3976HG (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0.000071/1 (ALFA)
                              -=0.000015/4 (TOPMED)
                              HGVS:
                              15.

                              rs1490567164 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                18:5772622 (GRCh38)
                                18:5772621 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:5772621:T:C
                                Gene:
                                MIR3976HG (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490549697 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  18:5787674 (GRCh38)
                                  18:5787673 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:5787673:T:C
                                  Gene:
                                  MIR3976HG (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  C=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490529030 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    18:5795197 (GRCh38)
                                    18:5795196 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:5795196:A:G
                                    Gene:
                                    MIR3976HG (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490429090 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      18:5764894 (GRCh38)
                                      18:5764893 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:5764893:A:G
                                      Gene:
                                      MIR3976HG (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1490378845 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GAG>- [Show Flanks]
                                        Chromosome:
                                        18:5765723 (GRCh38)
                                        18:5765722 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:5765720:AGGAG:AG
                                        Gene:
                                        MIR3976HG (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AG=0./0 (ALFA)
                                        -=0.000007/1 (GnomAD)
                                        -=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490225100 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          18:5761030 (GRCh38)
                                          18:5761029 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:5761029:A:G
                                          Gene:
                                          MIR3976HG (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000066/1 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000223/1 (Estonian)
                                          A=0.5/1 (SGDP_PRJ)
                                          HGVS:

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