ClinVar Miner

List of variants reported as pathogenic by Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University and Hebei Key Laboratory of Stomatology

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022336.4(EDAR):c.338G>A (p.Cys113Tyr) rs1475705727 0.00001
NM_001372076.1(PAX9):c.140G>C (p.Arg47Pro) rs1881341880
NM_001372076.1(PAX9):c.146C>T (p.Ser49Leu) rs2139107979
NM_001372076.1(PAX9):c.152G>T (p.Gly51Val) rs2139107997
NM_001372076.1(PAX9):c.243del (p.Thr82fs) rs2139108140
NM_001372076.1(PAX9):c.409C>T (p.Gln137Ter) rs764595344
NM_002448.3(MSX1):c.576_577insTAG (p.Gln193Ter) rs2108778623

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.