ClinVar Miner

List of variants reported as likely pathogenic for oculocutaneous albinism type 2 by Illumina Laboratory Services, Illumina

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)	rs121918169	0.00005
NM_000275.3(OCA2):c.1319T>C (p.Leu440Ser)	rs2041306355

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