ClinVar Miner

List of variants in gene CDKL5 reported by Ambry Genetics

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Total variants: 26
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HGVS dbSNP
NM_001323289.2(CDKL5):c.1165C>T (p.Gln389Ter) rs1569219346
NM_001323289.2(CDKL5):c.1245_1246AG[1] (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_001323289.2(CDKL5):c.1579C>T (p.Pro527Ser) rs1275389347
NM_001323289.2(CDKL5):c.1782T>C (p.Tyr594=)
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_001323289.2(CDKL5):c.310C>A (p.Pro104Thr) rs1569213881
NM_001323289.2(CDKL5):c.666del (p.Ile223fs) rs1569215645
NM_001323289.2(CDKL5):c.939A>G (p.Arg313=)
NM_001323289.2(CDKL5):c.987C>T (p.Ala329=) rs142665931
NM_003159.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_003159.2(CDKL5):c.1107_1120del (p.Gly369_Asn370insTer) rs1555951954
NM_003159.2(CDKL5):c.1209_1210AC[3] (p.Leu405fs) rs1555951981
NM_003159.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977
NM_003159.2(CDKL5):c.1684A>G (p.Thr562Ala) rs376341076
NM_003159.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866
NM_003159.2(CDKL5):c.2152+1G>A rs1555952732
NM_003159.2(CDKL5):c.480G>C (p.Leu160=)
NM_003159.2(CDKL5):c.514G>A (p.Val172Ile) rs797044858
NM_003159.2(CDKL5):c.656A>C (p.Gln219Pro) rs786204963
NM_003159.2(CDKL5):c.93A>G (p.Arg31=) rs140332992

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