ClinVar Miner

List of variants in gene CDKL5 reported as pathogenic by Ambry Genetics

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Total variants: 9
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HGVS dbSNP
NM_001323289.2(CDKL5):c.1107_1120del (p.Gly369_Asn370insTer) rs1555951954
NM_001323289.2(CDKL5):c.1165C>T (p.Gln389Ter) rs1569219346
NM_001323289.2(CDKL5):c.1211_1212dup (p.Leu405fs) rs1555951981
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter)
NM_001323289.2(CDKL5):c.2152+1G>A rs1555952732
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_001323289.2(CDKL5):c.514G>A (p.Val172Ile) rs797044858
NM_001323289.2(CDKL5):c.666del (p.Ile223fs) rs1569215645

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