ClinVar Miner

List of variants reported as pathogenic for West syndrome by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2392A>C (p.Thr798Pro) rs1948653017
NM_000834.5(GRIN2B):c.2560del (p.Cys854fs)
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.1976_1977del (p.Val659fs) rs2147164191
NM_001323289.2(CDKL5):c.2276+1G>A rs1602292181
NM_001323289.2(CDKL5):c.354_361del (p.Leu119fs) rs1925421198
NM_001323289.2(CDKL5):c.898_899del (p.Gln300fs) rs1602282699

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.