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Items: 1 to 20 of 8623

1.

rs1491556774 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->CC [Show Flanks]
    Chromosome:
    16:67320904 (GRCh38)
    16:67354808 (GRCh37)
    Canonical SPDI:
    NC_000016.10:67320904::CC
    Gene:
    KCTD19 (Varview)
    Functional Consequence:
    intron_variant
    HGVS:
    2.

    rs1491502351 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      16:67328493 (GRCh38)
      16:67362397 (GRCh37)
      Canonical SPDI:
      NC_000016.10:67328493::T
      Gene:
      LRRC36 (Varview), KCTD19 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1491469257 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->A [Show Flanks]
        Chromosome:
        16:67290168 (GRCh38)
        16:67324072 (GRCh37)
        Canonical SPDI:
        NC_000016.10:67290168::A
        Gene:
        KCTD19 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000058/1 (GnomAD)
        HGVS:
        4.

        rs1491442848 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          16:67297694 (GRCh38)
          16:67331597 (GRCh37)
          Canonical SPDI:
          NC_000016.10:67297692:ACA:A
          Gene:
          KCTD19 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by cluster
          MAF:
          -=0.000004/1 (GnomAD_exomes)
          -=0.000008/1 (ExAC)
          HGVS:
          5.

          rs1491405950 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GGG>-,G,GG,GGGGG [Show Flanks]
            Chromosome:
            16:67314875 (GRCh38)
            16:67348778 (GRCh37)
            Canonical SPDI:
            NC_000016.10:67314873:GGGG:G,NC_000016.10:67314873:GGGG:GG,NC_000016.10:67314873:GGGG:GGG,NC_000016.10:67314873:GGGG:GGGGGG
            Gene:
            KCTD19 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GGGGGG=0./0 (ALFA)
            -=0.01684/10 (NorthernSweden)
            HGVS:
            6.

            rs1491386741 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              16:67328494 (GRCh38)
              16:67362397 (GRCh37)
              Canonical SPDI:
              NC_000016.10:67328492:ACA:A
              Gene:
              LRRC36 (Varview), KCTD19 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1491336436 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->A,AGA,AGAGA,AGAGAGAGA,AGAGAGAGAGA,AGAGAGAGAGAGA,AGAGAGAGAGAGAGA,AGAGAGAGAGAGAGAGA,AGAGAGAGAGAGAGAGAGA [Show Flanks]
                Chromosome:
                16:67314874 (GRCh38)
                16:67348778 (GRCh37)
                Canonical SPDI:
                NC_000016.10:67314874::A,NC_000016.10:67314874::AGA,NC_000016.10:67314874::AGAGA,NC_000016.10:67314874::AGAGAGAGA,NC_000016.10:67314874::AGAGAGAGAGA,NC_000016.10:67314874::AGAGAGAGAGAGA,NC_000016.10:67314874::AGAGAGAGAGAGAGA,NC_000016.10:67314874::AGAGAGAGAGAGAGAGA,NC_000016.10:67314874::AGAGAGAGAGAGAGAGAGA
                Gene:
                KCTD19 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by cluster
                HGVS:
                NC_000016.10:g.67314874_67314875insA, NC_000016.10:g.67314874_67314875insAGA, NC_000016.10:g.67314874_67314875insAGAGA, NC_000016.10:g.67314874_67314875insAGAGAGAGA, NC_000016.10:g.67314874_67314875insAGAGAGAGAGA, NC_000016.10:g.67314874_67314875insAGAGAGAGAGAGA, NC_000016.10:g.67314874_67314875insAGAGAGAGAGAGAGA, NC_000016.10:g.67314874_67314875insAGAGAGAGAGAGAGAGA, NC_000016.10:g.67314874_67314875insAGAGAGAGAGAGAGAGAGA, NC_000016.9:g.67348777_67348778insA, NC_000016.9:g.67348777_67348778insAGA, NC_000016.9:g.67348777_67348778insAGAGA, NC_000016.9:g.67348777_67348778insAGAGAGAGA, NC_000016.9:g.67348777_67348778insAGAGAGAGAGA, NC_000016.9:g.67348777_67348778insAGAGAGAGAGAGA, NC_000016.9:g.67348777_67348778insAGAGAGAGAGAGAGA, NC_000016.9:g.67348777_67348778insAGAGAGAGAGAGAGAGA, NC_000016.9:g.67348777_67348778insAGAGAGAGAGAGAGAGAGA, NG_053040.1:g.16884_16885insT, NG_053040.1:g.16884_16885insTCT, NG_053040.1:g.16884_16885insTCTCT, NG_053040.1:g.16884_16885insTCTCTCTCT, NG_053040.1:g.16884_16885insTCTCTCTCTCT, NG_053040.1:g.16884_16885insTCTCTCTCTCTCT, NG_053040.1:g.16884_16885insTCTCTCTCTCTCTCT, NG_053040.1:g.16884_16885insTCTCTCTCTCTCTCTCT, NG_053040.1:g.16884_16885insTCTCTCTCTCTCTCTCTCT
                8.

                rs1491151978 has merged into rs11296444 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  16:67290179 (GRCh38)
                  16:67324082 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67290167:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  KCTD19 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTT=0./0 (ALFA)
                  HGVS:
                  NC_000016.10:g.67290179_67290195del, NC_000016.10:g.67290180_67290195del, NC_000016.10:g.67290181_67290195del, NC_000016.10:g.67290182_67290195del, NC_000016.10:g.67290183_67290195del, NC_000016.10:g.67290184_67290195del, NC_000016.10:g.67290185_67290195del, NC_000016.10:g.67290186_67290195del, NC_000016.10:g.67290187_67290195del, NC_000016.10:g.67290188_67290195del, NC_000016.10:g.67290189_67290195del, NC_000016.10:g.67290190_67290195del, NC_000016.10:g.67290191_67290195del, NC_000016.10:g.67290192_67290195del, NC_000016.10:g.67290193_67290195del, NC_000016.10:g.67290194_67290195del, NC_000016.10:g.67290195del, NC_000016.10:g.67290195dup, NC_000016.10:g.67290194_67290195dup, NC_000016.10:g.67290193_67290195dup, NC_000016.10:g.67290192_67290195dup, NC_000016.10:g.67290191_67290195dup, NC_000016.10:g.67290190_67290195dup, NC_000016.10:g.67290189_67290195dup, NC_000016.10:g.67290188_67290195dup, NC_000016.10:g.67290187_67290195dup, NC_000016.10:g.67290185_67290195dup, NC_000016.10:g.67290184_67290195dup, NC_000016.10:g.67290183_67290195dup, NC_000016.10:g.67290179_67290195dup, NC_000016.10:g.67290195_67290196insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.67290195_67290196insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.67324082_67324098del, NC_000016.9:g.67324083_67324098del, NC_000016.9:g.67324084_67324098del, NC_000016.9:g.67324085_67324098del, NC_000016.9:g.67324086_67324098del, NC_000016.9:g.67324087_67324098del, NC_000016.9:g.67324088_67324098del, NC_000016.9:g.67324089_67324098del, NC_000016.9:g.67324090_67324098del, NC_000016.9:g.67324091_67324098del, NC_000016.9:g.67324092_67324098del, NC_000016.9:g.67324093_67324098del, NC_000016.9:g.67324094_67324098del, NC_000016.9:g.67324095_67324098del, NC_000016.9:g.67324096_67324098del, NC_000016.9:g.67324097_67324098del, NC_000016.9:g.67324098del, NC_000016.9:g.67324098dup, NC_000016.9:g.67324097_67324098dup, NC_000016.9:g.67324096_67324098dup, NC_000016.9:g.67324095_67324098dup, NC_000016.9:g.67324094_67324098dup, NC_000016.9:g.67324093_67324098dup, NC_000016.9:g.67324092_67324098dup, NC_000016.9:g.67324091_67324098dup, NC_000016.9:g.67324090_67324098dup, NC_000016.9:g.67324088_67324098dup, NC_000016.9:g.67324087_67324098dup, NC_000016.9:g.67324086_67324098dup, NC_000016.9:g.67324082_67324098dup, NC_000016.9:g.67324098_67324099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.67324098_67324099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008439.2:g.17670_17686del, NG_008439.2:g.17671_17686del, NG_008439.2:g.17672_17686del, NG_008439.2:g.17673_17686del, NG_008439.2:g.17674_17686del, NG_008439.2:g.17675_17686del, NG_008439.2:g.17676_17686del, NG_008439.2:g.17677_17686del, NG_008439.2:g.17678_17686del, NG_008439.2:g.17679_17686del, NG_008439.2:g.17680_17686del, NG_008439.2:g.17681_17686del, NG_008439.2:g.17682_17686del, NG_008439.2:g.17683_17686del, NG_008439.2:g.17684_17686del, NG_008439.2:g.17685_17686del, NG_008439.2:g.17686del, NG_008439.2:g.17686dup, NG_008439.2:g.17685_17686dup, NG_008439.2:g.17684_17686dup, NG_008439.2:g.17683_17686dup, NG_008439.2:g.17682_17686dup, NG_008439.2:g.17681_17686dup, NG_008439.2:g.17680_17686dup, NG_008439.2:g.17679_17686dup, NG_008439.2:g.17678_17686dup, NG_008439.2:g.17676_17686dup, NG_008439.2:g.17675_17686dup, NG_008439.2:g.17674_17686dup, NG_008439.2:g.17670_17686dup, NG_008439.2:g.17686_17687insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008439.2:g.17686_17687insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053040.1:g.41575_41591del, NG_053040.1:g.41576_41591del, NG_053040.1:g.41577_41591del, NG_053040.1:g.41578_41591del, NG_053040.1:g.41579_41591del, NG_053040.1:g.41580_41591del, NG_053040.1:g.41581_41591del, NG_053040.1:g.41582_41591del, NG_053040.1:g.41583_41591del, NG_053040.1:g.41584_41591del, NG_053040.1:g.41585_41591del, NG_053040.1:g.41586_41591del, NG_053040.1:g.41587_41591del, NG_053040.1:g.41588_41591del, NG_053040.1:g.41589_41591del, NG_053040.1:g.41590_41591del, NG_053040.1:g.41591del, NG_053040.1:g.41591dup, NG_053040.1:g.41590_41591dup, NG_053040.1:g.41589_41591dup, NG_053040.1:g.41588_41591dup, NG_053040.1:g.41587_41591dup, NG_053040.1:g.41586_41591dup, NG_053040.1:g.41585_41591dup, NG_053040.1:g.41584_41591dup, NG_053040.1:g.41583_41591dup, NG_053040.1:g.41581_41591dup, NG_053040.1:g.41580_41591dup, NG_053040.1:g.41579_41591dup, NG_053040.1:g.41575_41591dup, NG_053040.1:g.41591_41592insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_053040.1:g.41591_41592insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                  9.

                  rs1491063781 has merged into rs60872060 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAAAAAA>-,AAA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    16:67309134 (GRCh38)
                    16:67343037 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:67309128:AAAAAAAAAAAAAAAA:AAAAA,NC_000016.10:67309128:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000016.10:67309128:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:67309128:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:67309128:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:67309128:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:67309128:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:67309128:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:67309128:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:67309128:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:67309128:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67309128:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67309128:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67309128:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67309128:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67309128:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    KCTD19 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAA=0./0 (ALFA)
                    A=0.0109/10 (1000Genomes)
                    HGVS:
                    NC_000016.10:g.67309134_67309144del, NC_000016.10:g.67309137_67309144del, NC_000016.10:g.67309138_67309144del, NC_000016.10:g.67309141_67309144del, NC_000016.10:g.67309142_67309144del, NC_000016.10:g.67309143_67309144del, NC_000016.10:g.67309144del, NC_000016.10:g.67309144dup, NC_000016.10:g.67309143_67309144dup, NC_000016.10:g.67309142_67309144dup, NC_000016.10:g.67309138_67309144dup, NC_000016.10:g.67309137_67309144dup, NC_000016.10:g.67309136_67309144dup, NC_000016.10:g.67309134_67309144dup, NC_000016.10:g.67309133_67309144dup, NC_000016.10:g.67309144_67309145insAAAAAAAAAAAAAAAAA, NC_000016.9:g.67343037_67343047del, NC_000016.9:g.67343040_67343047del, NC_000016.9:g.67343041_67343047del, NC_000016.9:g.67343044_67343047del, NC_000016.9:g.67343045_67343047del, NC_000016.9:g.67343046_67343047del, NC_000016.9:g.67343047del, NC_000016.9:g.67343047dup, NC_000016.9:g.67343046_67343047dup, NC_000016.9:g.67343045_67343047dup, NC_000016.9:g.67343041_67343047dup, NC_000016.9:g.67343040_67343047dup, NC_000016.9:g.67343039_67343047dup, NC_000016.9:g.67343037_67343047dup, NC_000016.9:g.67343036_67343047dup, NC_000016.9:g.67343047_67343048insAAAAAAAAAAAAAAAAA, NG_053040.1:g.22620_22630del, NG_053040.1:g.22623_22630del, NG_053040.1:g.22624_22630del, NG_053040.1:g.22627_22630del, NG_053040.1:g.22628_22630del, NG_053040.1:g.22629_22630del, NG_053040.1:g.22630del, NG_053040.1:g.22630dup, NG_053040.1:g.22629_22630dup, NG_053040.1:g.22628_22630dup, NG_053040.1:g.22624_22630dup, NG_053040.1:g.22623_22630dup, NG_053040.1:g.22622_22630dup, NG_053040.1:g.22620_22630dup, NG_053040.1:g.22619_22630dup, NG_053040.1:g.22630_22631insTTTTTTTTTTTTTTTTT
                    10.

                    rs1490881716 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      16:67298689 (GRCh38)
                      16:67332592 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:67298688:G:A
                      Gene:
                      KCTD19 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.00033/5 (ALFA)
                      A=0.00005/7 (GnomAD)
                      A=0.001116/5 (Estonian)
                      HGVS:
                      11.

                      rs1490554405 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        16:67296501 (GRCh38)
                        16:67330404 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:67296500:G:A
                        Gene:
                        KCTD19 (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:
                        12.

                        rs1490498783 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          16:67315747 (GRCh38)
                          16:67349650 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:67315746:G:A
                          Gene:
                          KCTD19 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          A=0.0005/3 (1000Genomes)
                          HGVS:
                          13.

                          rs1490458060 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            16:67304050 (GRCh38)
                            16:67337953 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:67304049:C:T
                            Gene:
                            KCTD19 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000019/5 (TOPMED)
                            HGVS:
                            14.

                            rs1490404494 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C [Show Flanks]
                              Chromosome:
                              16:67319988 (GRCh38)
                              16:67353891 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:67319987:T:A,NC_000016.10:67319987:T:C
                              Gene:
                              KCTD19 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              A=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1490387043 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,G [Show Flanks]
                                Chromosome:
                                16:67318721 (GRCh38)
                                16:67352624 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:67318720:A:C,NC_000016.10:67318720:A:G
                                Gene:
                                KCTD19 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                G=0.000035/1 (TOMMO)
                                C=0.000042/11 (TOPMED)
                                C=0.000043/6 (GnomAD)
                                HGVS:
                                16.

                                rs1490353952 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  16:67321199 (GRCh38)
                                  16:67355102 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:67321198:C:A
                                  Gene:
                                  KCTD19 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490295688 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    16:67302798 (GRCh38)
                                    16:67336701 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:67302797:C:T
                                    Gene:
                                    KCTD19 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490181114 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      16:67301564 (GRCh38)
                                      16:67335467 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:67301563:C:T
                                      Gene:
                                      KCTD19 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000019/5 (TOPMED)
                                      C=0.5/1 (SGDP_PRJ)
                                      HGVS:
                                      19.

                                      rs1490134235 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        16:67302804 (GRCh38)
                                        16:67336707 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:67302803:G:A
                                        Gene:
                                        KCTD19 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490030457 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C,G [Show Flanks]
                                          Chromosome:
                                          16:67320021 (GRCh38)
                                          16:67353924 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:67320020:T:C,NC_000016.10:67320020:T:G
                                          Gene:
                                          KCTD19 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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