ClinVar Miner

List of variants in gene CDKL5 reported as likely pathogenic for not provided

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Total variants: 18
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HGVS dbSNP
NM_003159.2(CDKL5):c.113T>G (p.Ile38Ser) rs1555947847
NM_003159.2(CDKL5):c.121A>T (p.Ile41Phe) rs587783071
NM_003159.2(CDKL5):c.2038A>T (p.Lys680Ter)
NM_003159.2(CDKL5):c.214_216del (p.Ile72del) rs786204960
NM_003159.2(CDKL5):c.234_238dupATTTC (p.Arg80Hisfs) rs1555949033
NM_003159.2(CDKL5):c.350A>G (p.Tyr117Cys) rs1189749755
NM_003159.2(CDKL5):c.393T>G (p.Ile131Met) rs1085307934
NM_003159.2(CDKL5):c.403G>C (p.Asp135His) rs1064794919
NM_003159.2(CDKL5):c.404-3C>A rs587783079
NM_003159.2(CDKL5):c.524G>T (p.Arg175Ile) rs1064794734
NM_003159.2(CDKL5):c.526T>A (p.Trp176Arg) rs587783084
NM_003159.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_003159.2(CDKL5):c.590T>G (p.Val197Gly) rs1057521806
NM_003159.2(CDKL5):c.59G>A (p.Gly20Asp) rs786204962
NM_003159.2(CDKL5):c.602T>C (p.Leu201Pro) rs587783087
NM_003159.2(CDKL5):c.626C>G (p.Pro209Arg) rs587783088
NM_003159.2(CDKL5):c.854G>A (p.Arg285Lys) rs1064795672
NM_003159.2(CDKL5):c.871T>C (p.Cys291Arg) rs1131691376

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