ClinVar Miner

List of variants in gene CDKL5 reported as likely benign by Invitae

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Total variants: 31
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HGVS dbSNP
NM_001323289.2(CDKL5):c.1038C>T (p.Ile346=) rs754663076
NM_001323289.2(CDKL5):c.1198A>C (p.Asn400His) rs921600020
NM_001323289.2(CDKL5):c.1342A>G (p.Met448Val)
NM_001323289.2(CDKL5):c.1452C>A (p.Thr484=)
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_001323289.2(CDKL5):c.1590A>C (p.Pro530=) rs891117762
NM_001323289.2(CDKL5):c.1614G>A (p.Thr538=)
NM_001323289.2(CDKL5):c.1692T>C (p.His564=) rs765011302
NM_001323289.2(CDKL5):c.1701G>A (p.Thr567=)
NM_001323289.2(CDKL5):c.1730T>C (p.Met577Thr) rs749822712
NM_001323289.2(CDKL5):c.1743T>C (p.His581=)
NM_001323289.2(CDKL5):c.192T>G (p.Leu64=) rs145496868
NM_001323289.2(CDKL5):c.2086G>A (p.Ala696Thr) rs374518046
NM_001323289.2(CDKL5):c.2109A>T (p.Leu703=) rs761789190
NM_001323289.2(CDKL5):c.2217A>G (p.Leu739=)
NM_001323289.2(CDKL5):c.2220A>G (p.Pro740=) rs142079769
NM_001323289.2(CDKL5):c.2241C>T (p.Thr747=)
NM_001323289.2(CDKL5):c.2277-7C>T
NM_001323289.2(CDKL5):c.231A>G (p.Glu77=)
NM_001323289.2(CDKL5):c.2493C>T (p.Thr831=) rs1555954758
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935
NM_001323289.2(CDKL5):c.291C>G (p.Leu97=)
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=)
NM_001323289.2(CDKL5):c.396C>T (p.Val132=)
NM_001323289.2(CDKL5):c.480G>C (p.Leu160=) rs750878642
NM_001323289.2(CDKL5):c.513C>T (p.Tyr171=)
NM_001323289.2(CDKL5):c.554+10C>T
NM_001323289.2(CDKL5):c.555-7T>A
NM_001323289.2(CDKL5):c.909G>A (p.Leu303=)
NM_001323289.2(CDKL5):c.933A>G (p.Ala311=)
NM_001323289.2(CDKL5):c.987C>T (p.Ala329=) rs142665931

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