ClinVar Miner

List of variants reported as pathogenic for oculocutaneous albinism type 2 by Center of Medical Genetics, Central South University

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: 3

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HGVS	dbSNP	gnomAD frequency
NC_000015.9:g.(28096556_28116427)_(28116428_28116982)del
NC_000015.9:g.(28231692_28234685)_(28234686_28235802)del
NM_000275.3(OCA2):c.1120_1123del (p.Pro374fs)	rs1595774445

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