ClinVar Miner

List of variants in gene CDKL5 studied for History of neurodevelopmental disorder

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Total variants: 20
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HGVS dbSNP
NM_003159.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_003159.2(CDKL5):c.1165C>T (p.Gln389Ter)
NM_003159.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977
NM_003159.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616
NM_003159.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419
NM_003159.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_003159.2(CDKL5):c.1579C>T (p.Pro527Ser)
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.1782T>C (p.Tyr594=)
NM_003159.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957
NM_003159.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150
NM_003159.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225
NM_003159.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_003159.2(CDKL5):c.310C>A (p.Pro104Thr)
NM_003159.2(CDKL5):c.480G>C (p.Leu160=)
NM_003159.2(CDKL5):c.666delT (p.Ile223Phefs)
NM_003159.2(CDKL5):c.939A>G (p.Arg313=)
NM_003159.2(CDKL5):c.93A>G (p.Arg31=) rs140332992
NM_003159.2(CDKL5):c.987C>T (p.Ala329=) rs142665931

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