ClinVar Miner

List of variants in gene CDKL5 reported as benign by RettBASE

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_001323289.2(CDKL5):c.145+17A>G rs199814742
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) rs267608645
NM_001323289.2(CDKL5):c.2046+79G>A rs147819758
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150
NM_001323289.2(CDKL5):c.2376+118T>A rs3752484
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935
NM_001323289.2(CDKL5):c.283-99C>A rs4825261
NM_001323289.2(CDKL5):c.555-19C>G rs75057928
NM_001323289.2(CDKL5):c.64+26G>A rs374664378
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.1278A>C (p.Ser426=) rs267608620
NM_003159.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977
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]
NM_003159.2(CDKL5):c.194G>A (p.Arg65Gln) rs267608436
NM_003159.2(CDKL5):c.216T>A (p.Ile72=) rs267608439
NM_003159.2(CDKL5):c.2308C>A (p.Gln770Lys) rs786204954
NM_003159.2(CDKL5):c.2377-31T>C rs267608658
NM_003159.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320
NM_003159.2(CDKL5):c.333A>G (p.Lys111=) rs786204955
NM_003159.2(CDKL5):c.404-53T>C rs786204956
NM_003159.2(CDKL5):c.405T>C (p.Asp135=) rs786204957
NM_003159.2(CDKL5):c.463+22T>C rs267608478
NM_003159.2(CDKL5):c.554+11G>A rs267608498
NM_003159.2(CDKL5):c.573C>G (p.Ser191=) rs786204958
NM_003159.2(CDKL5):c.978-23T>C rs267608555
NM_003159.2(CDKL5):c.99+34A>G rs137874941

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.