ClinVar Miner

List of variants in gene CDKL5 reported as uncertain significance for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_001323289.2(CDKL5):c.1296_1298del (p.Lys432_Tyr433delinsAsn) rs1555951997
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val) rs781427744
NM_001323289.2(CDKL5):c.1591A>G (p.Thr531Ala) rs778464010
NM_001323289.2(CDKL5):c.1684A>G (p.Thr562Ala) rs376341076
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866
NM_001323289.2(CDKL5):c.2215C>T (p.Leu739=) rs747554139
NM_001323289.2(CDKL5):c.2378T>C (p.Val793Ala) rs62643617
NM_001323289.2(CDKL5):c.2384A>C (p.Asn795Thr) rs863225067
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His) rs376429571
NM_001323289.2(CDKL5):c.2496+19A>G rs797045444
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001323289.2(CDKL5):c.65-4A>G rs777490768
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992
NM_001323289.2(CDKL5):c.99+29T>G rs267608422

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.