ClinVar Miner

List of variants reported as likely pathogenic for oculocutaneous albinism type 2 by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)	rs61745150	0.00086
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	rs141949212	0.00021

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