ClinVar Miner

List of variants studied for Silver-Russell syndrome by Departement de Genetique, Biologie Moleculaire Endocrinienne, Assistance Publique–Hôpitaux de Paris, Hopital Trousseau

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003836.7(DLK1):c.194A>G (p.His65Arg) rs147224004 0.00051
NM_003836.7(DLK1):c.103G>C (p.Gly35Arg) rs762558665

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.