List of variants in gene CYP4V2 reported as likely benign for Bietti crystalline corneoretinal dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
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.*4T>C	rs76978024	0.00479
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln)	rs72646291	0.00306
NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr)	rs61745524	0.00299
NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=)	rs141950964	0.00089
NM_207352.4(CYP4V2):c.*210dup	rs199938898
NM_207352.4(CYP4V2):c.1338C>G (p.Pro446=)	rs35524919

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.