ClinVar Miner

List of variants in gene GRHL3 reported as pathogenic for orofacial cleft

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198173.3(GRHL3):c.800C>G (p.Ala267Gly) rs34593559 0.00737
NM_198173.3(GRHL3):c.1172G>A (p.Arg391His) rs1315515436
NM_198173.3(GRHL3):c.1285+2del rs886037770
NM_198173.3(GRHL3):c.738C>T (p.Gly246=) rs886037767
NM_198173.3(GRHL3):c.840+1G>T rs886037768
NM_198173.3(GRHL3):c.916dup (p.Arg306fs) rs886037769

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.