ClinVar Miner

List of variants reported as uncertain significance for CDKL5 disorder by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_001323289.2(CDKL5):c.283-13A>G rs587783404
NM_003159.2(CDKL5):c.1678A>G (p.Thr560Ala) rs587783400
NM_003159.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_003159.2(CDKL5):c.248G>T (p.Gly83Val) rs587783402
NM_003159.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694
NM_003159.2(CDKL5):c.2820C>A (p.Asp940Glu) rs587783403
NM_003159.2(CDKL5):c.969G>A (p.Leu323=) rs587783407

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.