ClinVar Miner

List of variants reported as pathogenic for electroclinical syndrome by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000009.11:g.(?_131382516)_(131393966_?)del
NM_001271.4(CHD2):c.3780dup (p.Trp1261fs) rs2054200651
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu) rs796052641

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.