ClinVar Miner

List of variants reported as pathogenic for oculocutaneous albinism type 2 by Mendelics

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

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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.1327G>A (p.Val443Ile)	rs121918166	0.00350
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)	rs142988897	0.00006

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