ClinVar Miner

List of variants in gene CDKL5 reported as likely pathogenic by GeneDx

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Total variants: 16
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NM_001323289.2(CDKL5):c.113T>G (p.Ile38Ser) rs1555947847
NM_001323289.2(CDKL5):c.121A>T (p.Ile41Phe) rs587783071
NM_001323289.2(CDKL5):c.2038A>T (p.Lys680Ter) rs1569220754
NM_001323289.2(CDKL5):c.234_238dup (p.Arg80fs) rs1555949033
NM_001323289.2(CDKL5):c.2374dup (p.Thr792fs)
NM_001323289.2(CDKL5):c.350A>G (p.Tyr117Cys) rs1189749755
NM_001323289.2(CDKL5):c.393T>G (p.Ile131Met) rs1085307934
NM_001323289.2(CDKL5):c.403G>C (p.Asp135His) rs1064794919
NM_001323289.2(CDKL5):c.404-3C>A rs587783079
NM_001323289.2(CDKL5):c.524G>T (p.Arg175Ile) rs1064794734
NM_001323289.2(CDKL5):c.526T>A (p.Trp176Arg) rs587783084
NM_001323289.2(CDKL5):c.590T>G (p.Val197Gly) rs1057521806
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro) rs587783087
NM_001323289.2(CDKL5):c.626C>G (p.Pro209Arg) rs587783088
NM_001323289.2(CDKL5):c.854G>A (p.Arg285Lys) rs1064795672
NM_001323289.2(CDKL5):c.871T>C (p.Cys291Arg) rs1131691376

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