ClinVar Miner

List of variants in gene CDKL5 reported as likely pathogenic by Center for Human Genetics, Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_001323289.2(CDKL5):c.1596del (p.Thr533fs) rs1555952078
NM_003159.2(CDKL5):c.1238C>A (p.Ser413Ter) rs267608618
NM_003159.2(CDKL5):c.2480_2486dup (p.Gln830fs) rs1555954752
NM_003159.2(CDKL5):c.99+1G>T rs267608421

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.