ClinVar Miner

List of variants in gene CDKL5 reported as benign

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Gene type:
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Total variants: 69
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HGVS dbSNP
GRCh37/hg19 Xp22.13(chrX:18479297-18501928)x3
GRCh37/hg19 Xp22.13(chrX:18493983-18501928)x3
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_001323289.2(CDKL5):c.1088A>G (p.Asn363Ser)
NM_001323289.2(CDKL5):c.1098C>T (p.Phe366=) rs777079786
NM_001323289.2(CDKL5):c.1278A>C (p.Ser426=) rs267608620
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977
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.1400A>G (p.His467Arg) rs267608631
NM_001323289.2(CDKL5):c.1422C>T (p.Pro474=)
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_001323289.2(CDKL5):c.145+17A>G rs199814742
NM_001323289.2(CDKL5):c.145+5AT[10]
NM_001323289.2(CDKL5):c.145+5AT[11] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[13] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[14]
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) rs201893287
NM_001323289.2(CDKL5):c.1527G>A (p.Ala509=) rs369561849
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu) rs199897804
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) rs267608645
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=) rs148697943
NM_001323289.2(CDKL5):c.1818A>G (p.Gln606=) rs587783154
NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln) rs267608436
NM_001323289.2(CDKL5):c.2022C>G (p.Ser674=)
NM_001323289.2(CDKL5):c.2046+79G>A rs147819758
NM_001323289.2(CDKL5):c.2152+10C>G rs763466606
NM_001323289.2(CDKL5):c.216T>A (p.Ile72=) rs267608439
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878
NM_001323289.2(CDKL5):c.2256A>G (p.Arg752=)
NM_001323289.2(CDKL5):c.2308C>A (p.Gln770Lys) rs786204954
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150
NM_001323289.2(CDKL5):c.2376+118T>A rs3752484
NM_001323289.2(CDKL5):c.2377-31T>C rs267608658
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=) rs727503847
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632
NM_001323289.2(CDKL5):c.2466C>G (p.Arg822=) rs146488512
NM_001323289.2(CDKL5):c.2541G>A (p.Ser847=) rs781774964
NM_001323289.2(CDKL5):c.2652C>T (p.Gly884=) rs201473442
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935
NM_001323289.2(CDKL5):c.2680G>A (p.Ala894Thr) rs763110247
NM_001323289.2(CDKL5):c.283-12T>C rs188879559
NM_001323289.2(CDKL5):c.283-99C>A rs4825261
NM_001323289.2(CDKL5):c.333A>G (p.Lys111=) rs786204955
NM_001323289.2(CDKL5):c.404-53T>C rs786204956
NM_001323289.2(CDKL5):c.405T>C (p.Asp135=) rs786204957
NM_001323289.2(CDKL5):c.463+22T>C rs267608478
NM_001323289.2(CDKL5):c.463+8A>G
NM_001323289.2(CDKL5):c.464-9A>G rs374030184
NM_001323289.2(CDKL5):c.554+11G>A rs267608498
NM_001323289.2(CDKL5):c.555-19C>G rs75057928
NM_001323289.2(CDKL5):c.573C>G (p.Ser191=) rs786204958
NM_001323289.2(CDKL5):c.64+26G>A rs374664378
NM_001323289.2(CDKL5):c.886A>G (p.Thr296Ala) rs751995225
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992
NM_001323289.2(CDKL5):c.950A>G (p.His317Arg) rs756537286
NM_001323289.2(CDKL5):c.978-23T>C rs267608555
NM_001323289.2(CDKL5):c.99+34A>G rs137874941
NM_003159.2(CDKL5):c.-265C>G rs587783397
NM_003159.2(CDKL5):c.-391G>T rs191864898
NM_003159.2(CDKL5):c.-426C>G rs184407021
NM_003159.2(CDKL5):c.145+4_145+5AT(11_13)
NM_003159.2(CDKL5):c.145+4_145+5AT[13]
NM_003159.2(CDKL5):c.145+4_145+5AT[15]

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