ClinVar Miner

List of variants in gene CYP4V2 reported as likely benign for corneal dystrophy

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_207352.4(CYP4V2):c.327+11G>C rs62350517 0.05079
NM_207352.4(CYP4V2):c.823G>A (p.Glu275Lys) rs34745240 0.03921
NM_207352.4(CYP4V2):c.638G>A (p.Ser213Asn) rs34331648 0.02714
NM_207352.4(CYP4V2):c.1091-4T>A rs61748269 0.01211
NM_207352.4(CYP4V2):c.1536C>T (p.Gly512=) rs72646298 0.01209

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.