ClinVar Miner

List of variants in gene CDKL5 reported as likely benign for Early infantile epileptic encephalopathy 2; Angelman syndrome-like

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Total variants: 23
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HGVS dbSNP
NM_001323289.2(CDKL5):c.1038C>T (p.Ile346=) rs754663076
NM_001323289.2(CDKL5):c.1177A>G (p.Thr393Ala) rs1187227979
NM_001323289.2(CDKL5):c.1452C>A (p.Thr484=) rs760623086
NM_001323289.2(CDKL5):c.1579C>T (p.Pro527Ser) rs1275389347
NM_001323289.2(CDKL5):c.1590A>C (p.Pro530=) rs891117762
NM_001323289.2(CDKL5):c.1684A>G (p.Thr562Ala) rs376341076
NM_001323289.2(CDKL5):c.1692T>C (p.His564=) rs765011302
NM_001323289.2(CDKL5):c.1730T>C (p.Met577Thr) rs749822712
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=) rs1602292116
NM_001323289.2(CDKL5):c.2220A>G (p.Pro740=) rs142079769
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His) rs376429571
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>T (p.Leu97=) rs138125282
NM_001323289.2(CDKL5):c.480G>C (p.Leu160=) rs750878642
NM_001323289.2(CDKL5):c.554+10C>T rs755385076
NM_001323289.2(CDKL5):c.724C>A (p.Pro242Thr)
NM_001323289.2(CDKL5):c.933A>G (p.Ala311=) rs1348754333
NM_001323289.2(CDKL5):c.987C>T (p.Ala329=) rs142665931
NM_001323289.2(CDKL5):c.988G>A (p.Gly330Ser)

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