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Items: 1 to 20 of 41330

1.

rs1491587409 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    9:19325404 (GRCh38)
    9:19325403 (GRCh37)
    Canonical SPDI:
    NC_000009.12:19325404:G:GG
    Gene:
    DENND4C (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    GG=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1491568560 has merged into rs553611899 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      9:19283620 (GRCh38)
      9:19283618 (GRCh37)
      Canonical SPDI:
      NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19283610:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      DENND4C (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000009.12:g.19283620_19283628del, NC_000009.12:g.19283621_19283628del, NC_000009.12:g.19283623_19283628del, NC_000009.12:g.19283624_19283628del, NC_000009.12:g.19283625_19283628del, NC_000009.12:g.19283626_19283628del, NC_000009.12:g.19283627_19283628del, NC_000009.12:g.19283628del, NC_000009.12:g.19283628dup, NC_000009.12:g.19283627_19283628dup, NC_000009.12:g.19283626_19283628dup, NC_000009.12:g.19283625_19283628dup, NC_000009.12:g.19283624_19283628dup, NC_000009.12:g.19283623_19283628dup, NC_000009.12:g.19283622_19283628dup, NC_000009.12:g.19283618_19283628dup, NC_000009.12:g.19283617_19283628dup, NC_000009.12:g.19283616_19283628dup, NC_000009.12:g.19283615_19283628dup, NC_000009.12:g.19283628_19283629insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.19283618_19283626del, NC_000009.11:g.19283619_19283626del, NC_000009.11:g.19283621_19283626del, NC_000009.11:g.19283622_19283626del, NC_000009.11:g.19283623_19283626del, NC_000009.11:g.19283624_19283626del, NC_000009.11:g.19283625_19283626del, NC_000009.11:g.19283626del, NC_000009.11:g.19283626dup, NC_000009.11:g.19283625_19283626dup, NC_000009.11:g.19283624_19283626dup, NC_000009.11:g.19283623_19283626dup, NC_000009.11:g.19283622_19283626dup, NC_000009.11:g.19283621_19283626dup, NC_000009.11:g.19283620_19283626dup, NC_000009.11:g.19283616_19283626dup, NC_000009.11:g.19283615_19283626dup, NC_000009.11:g.19283614_19283626dup, NC_000009.11:g.19283613_19283626dup, NC_000009.11:g.19283626_19283627insTTTTTTTTTTTTTTTTTTTTTTTTT
      3.

      rs1491559853 has merged into rs202144404 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAA>-,A,AA,AAA,AAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
        Chromosome:
        9:19370464 (GRCh38)
        9:19370462 (GRCh37)
        Canonical SPDI:
        NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
        Gene:
        DENND4C (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAA=0./0 (ALFA)
        HGVS:
        4.

        rs1491490311 has merged into rs774098345 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTT>-,T,TT,TTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          9:19228909 (GRCh38)
          9:19228907 (GRCh37)
          Canonical SPDI:
          NC_000009.12:19228903:TTTTTTTTTTTTTTT:TTTTT,NC_000009.12:19228903:TTTTTTTTTTTTTTT:TTTTTT,NC_000009.12:19228903:TTTTTTTTTTTTTTT:TTTTTTT,NC_000009.12:19228903:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:19228903:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:19228903:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:19228903:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:19228903:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:19228903:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:19228903:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:19228903:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19228903:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19228903:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19228903:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19228903:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19228903:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          DENND4C (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTT=0./0 (ALFA)
          -=0.01833/11 (NorthernSweden)
          -=0.1/4 (GENOME_DK)
          HGVS:
          NC_000009.12:g.19228909_19228918del, NC_000009.12:g.19228910_19228918del, NC_000009.12:g.19228911_19228918del, NC_000009.12:g.19228912_19228918del, NC_000009.12:g.19228916_19228918del, NC_000009.12:g.19228917_19228918del, NC_000009.12:g.19228918del, NC_000009.12:g.19228918dup, NC_000009.12:g.19228917_19228918dup, NC_000009.12:g.19228916_19228918dup, NC_000009.12:g.19228913_19228918dup, NC_000009.12:g.19228911_19228918dup, NC_000009.12:g.19228910_19228918dup, NC_000009.12:g.19228909_19228918dup, NC_000009.12:g.19228905_19228918dup, NC_000009.12:g.19228918_19228919insTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.19228907_19228916del, NC_000009.11:g.19228908_19228916del, NC_000009.11:g.19228909_19228916del, NC_000009.11:g.19228910_19228916del, NC_000009.11:g.19228914_19228916del, NC_000009.11:g.19228915_19228916del, NC_000009.11:g.19228916del, NC_000009.11:g.19228916dup, NC_000009.11:g.19228915_19228916dup, NC_000009.11:g.19228914_19228916dup, NC_000009.11:g.19228911_19228916dup, NC_000009.11:g.19228909_19228916dup, NC_000009.11:g.19228908_19228916dup, NC_000009.11:g.19228907_19228916dup, NC_000009.11:g.19228903_19228916dup, NC_000009.11:g.19228916_19228917insTTTTTTTTTTTTTTTTTTTTTT
          5.

          rs1491485399 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            9:19372880 (GRCh38)
            9:19372879 (GRCh37)
            Canonical SPDI:
            NC_000009.12:19372880:G:GG
            Gene:
            DENND4C (Varview)
            Functional Consequence:
            non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            GG=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            NC_000009.12:g.19372881dup, NC_000009.11:g.19372879dup, NM_017925.7:c.*708dup, NM_017925.6:c.*708dup, NM_017925.5:c.*708dup, NR_073201.4:n.6462dup, NR_073201.3:n.6390dup, NR_073201.2:n.6390dup, NM_001330640.2:c.*708dup, NM_001330640.1:c.*708dup, NM_001386026.2:c.*708dup, NM_001386026.1:c.*708dup, NR_169854.1:n.6971dup, NM_001386044.1:c.*708dup, NR_169852.1:n.6839dup, NR_169850.1:n.6839dup, NR_169845.1:n.6839dup, NM_001386047.1:c.*708dup, XM_047423585.1:c.*835dup, NR_169843.1:n.6753dup, NR_169842.1:n.6727dup, NM_001386040.1:c.*708dup, NM_001386038.1:c.*708dup, NM_001386039.1:c.*835dup, XM_047423584.1:c.*708dup, NM_001386045.1:c.*835dup, NM_001386048.1:c.*708dup, NR_169853.1:n.6624dup, NR_169851.1:n.6569dup, NM_001386034.1:c.*708dup, NR_169844.1:n.6550dup, NM_001386037.1:c.*708dup, NM_001386042.1:c.*835dup, NM_001386035.1:c.*708dup, NM_001386030.1:c.*708dup, NM_001386043.1:c.*708dup, NR_169848.1:n.6391dup, XM_047423586.1:c.*708dup, NM_001386041.1:c.*875dup, NM_001386046.1:c.*708dup, NM_001386032.1:c.*708dup, NR_169849.1:n.6325dup, NR_169847.1:n.6278dup, NR_169846.1:n.6181dup, NM_001386036.1:c.*708dup, NM_001386031.1:c.*708dup
            6.

            rs1491471272 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->A [Show Flanks]
              Chromosome:
              9:19228904 (GRCh38)
              9:19228903 (GRCh37)
              Canonical SPDI:
              NC_000009.12:19228904::A
              Gene:
              DENND4C (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1491470028 has merged into rs35648828 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
                Chromosome:
                9:19321843 (GRCh38)
                9:19321841 (GRCh37)
                Canonical SPDI:
                NC_000009.12:19321831:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:19321831:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:19321831:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:19321831:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:19321831:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:19321831:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:19321831:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:19321831:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:19321831:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:19321831:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:19321831:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                DENND4C (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAAAAA=0./0 (ALFA)
                HGVS:
                8.

                rs1491433828 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  9:19321831 (GRCh38)
                  9:19321829 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:19321830:CA:
                  Gene:
                  DENND4C (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.00008/1 (ALFA)
                  -=0.00004/3 (GnomAD)
                  HGVS:
                  9.

                  rs1491423492 has merged into rs34272025 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTT>-,T,TT,TTT,TTTTT [Show Flanks]
                    Chromosome:
                    9:19275307 (GRCh38)
                    9:19275305 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:19275298:TTTTTTTTTTTT:TTTTTTTT,NC_000009.12:19275298:TTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:19275298:TTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:19275298:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:19275298:TTTTTTTTTTTT:TTTTTTTTTTTTT
                    Gene:
                    DENND4C (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTT=0./0 (ALFA)
                    T=0./0 (ALSPAC)
                    T=0./0 (TWINSUK)
                    T=0.03057/511 (TOMMO)
                    T=0.03607/36 (GoNL)
                    T=0.28261/143 (NorthernSweden)
                    HGVS:
                    10.

                    rs1491390801 has merged into rs1281301820 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AGAG>-,AG,AGAGAG [Show Flanks]
                      Chromosome:
                      9:19372882 (GRCh38)
                      9:19372880 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:19372879:AGAGAG:AG,NC_000009.12:19372879:AGAGAG:AGAG,NC_000009.12:19372879:AGAGAG:AGAGAGAG
                      Gene:
                      DENND4C (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AG=0./0 (ALFA)
                      -=0.00018/3 (TOMMO)
                      HGVS:
                      NC_000009.12:g.19372880AG[1], NC_000009.12:g.19372880AG[2], NC_000009.12:g.19372880AG[4], NC_000009.11:g.19372878AG[1], NC_000009.11:g.19372878AG[2], NC_000009.11:g.19372878AG[4], NM_017925.7:c.*707AG[1], NM_017925.7:c.*707AG[2], NM_017925.7:c.*707AG[4], NM_017925.6:c.*707AG[1], NM_017925.6:c.*707AG[2], NM_017925.6:c.*707AG[4], NM_017925.5:c.*707AG[1], NM_017925.5:c.*707AG[2], NM_017925.5:c.*707AG[4], NR_073201.4:n.6461AG[1], NR_073201.4:n.6461AG[2], NR_073201.4:n.6461AG[4], NR_073201.3:n.6389AG[1], NR_073201.3:n.6389AG[2], NR_073201.3:n.6389AG[4], NR_073201.2:n.6389AG[1], NR_073201.2:n.6389AG[2], NR_073201.2:n.6389AG[4], NM_001330640.2:c.*707AG[1], NM_001330640.2:c.*707AG[2], NM_001330640.2:c.*707AG[4], NM_001330640.1:c.*707AG[1], NM_001330640.1:c.*707AG[2], NM_001330640.1:c.*707AG[4], NM_001386026.2:c.*707AG[1], NM_001386026.2:c.*707AG[2], NM_001386026.2:c.*707AG[4], NM_001386026.1:c.*707AG[1], NM_001386026.1:c.*707AG[2], NM_001386026.1:c.*707AG[4], NR_169854.1:n.6970AG[1], NR_169854.1:n.6970AG[2], NR_169854.1:n.6970AG[4], NM_001386044.1:c.*707AG[1], NM_001386044.1:c.*707AG[2], NM_001386044.1:c.*707AG[4], NR_169852.1:n.6838AG[1], NR_169852.1:n.6838AG[2], NR_169852.1:n.6838AG[4], NR_169850.1:n.6838AG[1], NR_169850.1:n.6838AG[2], NR_169850.1:n.6838AG[4], NR_169845.1:n.6838AG[1], NR_169845.1:n.6838AG[2], NR_169845.1:n.6838AG[4], NM_001386047.1:c.*707AG[1], NM_001386047.1:c.*707AG[2], NM_001386047.1:c.*707AG[4], XM_047423585.1:c.*834AG[1], XM_047423585.1:c.*834AG[2], XM_047423585.1:c.*834AG[4], NR_169843.1:n.6752AG[1], NR_169843.1:n.6752AG[2], NR_169843.1:n.6752AG[4], NR_169842.1:n.6726AG[1], NR_169842.1:n.6726AG[2], NR_169842.1:n.6726AG[4], NM_001386040.1:c.*707AG[1], NM_001386040.1:c.*707AG[2], NM_001386040.1:c.*707AG[4], NM_001386038.1:c.*707AG[1], NM_001386038.1:c.*707AG[2], NM_001386038.1:c.*707AG[4], NM_001386039.1:c.*834AG[1], NM_001386039.1:c.*834AG[2], NM_001386039.1:c.*834AG[4], XM_047423584.1:c.*707AG[1], XM_047423584.1:c.*707AG[2], XM_047423584.1:c.*707AG[4], NM_001386045.1:c.*834AG[1], NM_001386045.1:c.*834AG[2], NM_001386045.1:c.*834AG[4], NM_001386048.1:c.*707AG[1], NM_001386048.1:c.*707AG[2], NM_001386048.1:c.*707AG[4], NR_169853.1:n.6623AG[1], NR_169853.1:n.6623AG[2], NR_169853.1:n.6623AG[4], NR_169851.1:n.6568AG[1], NR_169851.1:n.6568AG[2], NR_169851.1:n.6568AG[4], NM_001386034.1:c.*707AG[1], NM_001386034.1:c.*707AG[2], NM_001386034.1:c.*707AG[4], NR_169844.1:n.6549AG[1], NR_169844.1:n.6549AG[2], NR_169844.1:n.6549AG[4], NM_001386037.1:c.*707AG[1], NM_001386037.1:c.*707AG[2], NM_001386037.1:c.*707AG[4], NM_001386042.1:c.*834AG[1], NM_001386042.1:c.*834AG[2], NM_001386042.1:c.*834AG[4], NM_001386035.1:c.*707AG[1], NM_001386035.1:c.*707AG[2], NM_001386035.1:c.*707AG[4], NM_001386030.1:c.*707AG[1], NM_001386030.1:c.*707AG[2], NM_001386030.1:c.*707AG[4], NM_001386043.1:c.*707AG[1], NM_001386043.1:c.*707AG[2], NM_001386043.1:c.*707AG[4], NR_169848.1:n.6390AG[1], NR_169848.1:n.6390AG[2], NR_169848.1:n.6390AG[4], XM_047423586.1:c.*707AG[1], XM_047423586.1:c.*707AG[2], XM_047423586.1:c.*707AG[4], NM_001386041.1:c.*874AG[1], NM_001386041.1:c.*874AG[2], NM_001386041.1:c.*874AG[4], NM_001386046.1:c.*707AG[1], NM_001386046.1:c.*707AG[2], NM_001386046.1:c.*707AG[4], NM_001386032.1:c.*707AG[1], NM_001386032.1:c.*707AG[2], NM_001386032.1:c.*707AG[4], NR_169849.1:n.6324AG[1], NR_169849.1:n.6324AG[2], NR_169849.1:n.6324AG[4], NR_169847.1:n.6277AG[1], NR_169847.1:n.6277AG[2], NR_169847.1:n.6277AG[4], NR_169846.1:n.6180AG[1], NR_169846.1:n.6180AG[2], NR_169846.1:n.6180AG[4], NM_001386036.1:c.*707AG[1], NM_001386036.1:c.*707AG[2], NM_001386036.1:c.*707AG[4], NM_001386031.1:c.*707AG[1], NM_001386031.1:c.*707AG[2], NM_001386031.1:c.*707AG[4]
                      11.

                      rs1491362351 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        AC>- [Show Flanks]
                        Chromosome:
                        9:19304062 (GRCh38)
                        9:19304060 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:19304061:AC:
                        Gene:
                        DENND4C (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000029/4 (GnomAD)
                        HGVS:
                        12.

                        rs1491362128 has merged into rs1554717864 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTCTTTTTTTCTTCCCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                          Chromosome:
                          9:19282728 (GRCh38)
                          9:19282726 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTCTTCCCTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:19282715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                          Gene:
                          DENND4C (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTTTTTTTTTT=0./0 (ALFA)
                          TTTT=0.0727/280 (ALSPAC)
                          TTTT=0.0787/292 (TWINSUK)
                          HGVS:
                          NC_000009.12:g.19282728_19282734del, NC_000009.12:g.19282729_19282734del, NC_000009.12:g.19282730_19282734del, NC_000009.12:g.19282731_19282734del, NC_000009.12:g.19282733_19282734del, NC_000009.12:g.19282734del, NC_000009.12:g.19282734dup, NC_000009.12:g.19282733_19282734dup, NC_000009.12:g.19282732_19282734dup, NC_000009.12:g.19282731_19282734dup, NC_000009.12:g.19282716_19282734T[23]CTTTTTTTCTTCCCTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.19282730_19282734dup, NC_000009.12:g.19282729_19282734dup, NC_000009.12:g.19282728_19282734dup, NC_000009.12:g.19282727_19282734dup, NC_000009.12:g.19282726_19282734dup, NC_000009.12:g.19282725_19282734dup, NC_000009.12:g.19282724_19282734dup, NC_000009.12:g.19282723_19282734dup, NC_000009.12:g.19282722_19282734dup, NC_000009.12:g.19282721_19282734dup, NC_000009.12:g.19282720_19282734dup, NC_000009.12:g.19282718_19282734dup, NC_000009.12:g.19282717_19282734dup, NC_000009.12:g.19282716_19282734dup, NC_000009.12:g.19282734_19282735insTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.19282734_19282735insTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.19282734_19282735insTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.19282734_19282735insTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.19282734_19282735insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.19282734_19282735insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.19282734_19282735insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.19282734_19282735insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.19282734_19282735insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.19282734_19282735insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.19282734_19282735insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.19282734_19282735insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.19282734_19282735insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.19282734_19282735insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.19282734_19282735insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.19282726_19282732del, NC_000009.11:g.19282727_19282732del, NC_000009.11:g.19282728_19282732del, NC_000009.11:g.19282729_19282732del, NC_000009.11:g.19282731_19282732del, NC_000009.11:g.19282732del, NC_000009.11:g.19282732dup, NC_000009.11:g.19282731_19282732dup, NC_000009.11:g.19282730_19282732dup, NC_000009.11:g.19282729_19282732dup, NC_000009.11:g.19282714_19282732T[23]CTTTTTTTCTTCCCTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.19282728_19282732dup, NC_000009.11:g.19282727_19282732dup, NC_000009.11:g.19282726_19282732dup, NC_000009.11:g.19282725_19282732dup, NC_000009.11:g.19282724_19282732dup, NC_000009.11:g.19282723_19282732dup, NC_000009.11:g.19282722_19282732dup, NC_000009.11:g.19282721_19282732dup, NC_000009.11:g.19282720_19282732dup, NC_000009.11:g.19282719_19282732dup, NC_000009.11:g.19282718_19282732dup, NC_000009.11:g.19282716_19282732dup, NC_000009.11:g.19282715_19282732dup, NC_000009.11:g.19282714_19282732dup, NC_000009.11:g.19282732_19282733insTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.19282732_19282733insTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.19282732_19282733insTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.19282732_19282733insTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.19282732_19282733insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.19282732_19282733insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.19282732_19282733insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.19282732_19282733insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.19282732_19282733insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.19282732_19282733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.19282732_19282733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.19282732_19282733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.19282732_19282733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.19282732_19282733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.19282732_19282733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                          13.

                          rs1491355544 has merged into rs11459976 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            9:19244751 (GRCh38)
                            9:19244749 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:19244739:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:19244739:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:19244739:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:19244739:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:19244739:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:19244739:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:19244739:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:19244739:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
                            Gene:
                            DENND4C (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAAAAAAA=0./0 (ALFA)
                            A=0.4317/2162 (1000Genomes)
                            HGVS:
                            14.

                            rs1491353110 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->GT [Show Flanks]
                              Chromosome:
                              9:19330335 (GRCh38)
                              9:19330334 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:19330335:T:TGT
                              Gene:
                              DENND4C (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TGT=0./0 (ALFA)
                              TG=0.00005/2 (GnomAD)
                              HGVS:
                              15.

                              rs1491351946 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->C [Show Flanks]
                                Chromosome:
                                9:19228902 (GRCh38)
                                9:19228901 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:19228902:C:CC
                                Gene:
                                DENND4C (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CC=0./0 (ALFA)
                                C=0./0 (GnomAD)
                                C=0.000937/6 (1000Genomes)
                                HGVS:
                                16.

                                rs1491345335 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  AT>- [Show Flanks]
                                  Chromosome:
                                  9:19332517 (GRCh38)
                                  9:19332515 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:19332516:AT:
                                  Gene:
                                  DENND4C (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0.00006/1 (ALFA)
                                  -=0.00002/2 (GnomAD)
                                  -=0.00165/27 (TOMMO)
                                  -=0.0033/6 (Korea1K)
                                  HGVS:
                                  17.

                                  rs1491342676 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GA>- [Show Flanks]
                                    Chromosome:
                                    9:19295687 (GRCh38)
                                    9:19295685 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:19295685:AGA:A
                                    Gene:
                                    DENND4C (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000169/2 (ALFA)
                                    -=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1491327237 has merged into rs1416060825 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      GA>-,GAGA [Show Flanks]
                                      Chromosome:
                                      9:19257371 (GRCh38)
                                      9:19257369 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:19257369:AGA:A,NC_000009.12:19257369:AGA:AGAGA
                                      Gene:
                                      DENND4C (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AGAGA=0./0 (ALFA)
                                      AG=0.000008/2 (TOPMED)
                                      -=0.000108/15 (GnomAD)
                                      -=0.000496/8 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1491323580 [Homo sapiens]
                                        Variant type:
                                        INS
                                        Alleles:
                                        ->T [Show Flanks]
                                        Chromosome:
                                        9:19295686 (GRCh38)
                                        9:19295685 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:19295686::T
                                        Gene:
                                        DENND4C (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000019/5 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1491310321 [Homo sapiens]
                                          Variant type:
                                          INS
                                          Alleles:
                                          ->T [Show Flanks]
                                          Chromosome:
                                          9:19304062 (GRCh38)
                                          9:19304061 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:19304062::T
                                          Gene:
                                          DENND4C (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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