ClinVar Miner

List of variants reported as uncertain significance for Early infantile epileptic encephalopathy 2 by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_001323289.2(CDKL5):c.178G>C (p.Glu60Gln)
NM_001323289.2(CDKL5):c.422T>C (p.Leu141Pro)
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_003159.2(CDKL5):c.2767C>T (p.Arg923Cys) rs267608664

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.