ClinVar Miner

List of variants reported as pathogenic for oculocutaneous albinism type 2 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (4):

Brown oculocutaneous albinism
Tyrosinase-positive oculocutaneous albinism
Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 2; Increased analgesia from kappa-opioid receptor agonist, female-specific; Melanoma, cutaneous malignant, susceptibility to, 5

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

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	rs121918166	0.00350
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)	rs143218168	0.00054
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)	rs121918167	0.00023
NM_000275.3(OCA2):c.1248dup (p.Leu417fs)

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.