List of variants reported as likely pathogenic for albinism by Fulgent Genetics,Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP
NM_000275.3(OCA2):c.1503+5G>A	rs368124046
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)	rs776814755
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	rs141949212
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313
NM_000372.5(TYR):c.140G>A (p.Gly47Asp)	rs61753180
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)	rs63159160
NM_000372.5(TYR):c.823G>T (p.Val275Phe)	rs104894314

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.