ClinVar Miner

List of variants reported as benign for oculocutaneous albinism type 2 by Fulgent Genetics, Fulgent Genetics

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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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000275.3(OCA2):c.2328T>C (p.Ala776=)	rs1800419	0.47440
NM_002386.4(MC1R):c.488G>A (p.Arg163Gln)	rs885479	0.08396
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp)	rs1800401	0.07659

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