List of variants in gene OCA2 studied for Oculocutaneous albinism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)	rs121918170	0.00043
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)	rs142931246	0.00025
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	rs141949212	0.00021
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)	rs121918169	0.00005
NM_000275.3(OCA2):c.565_566del (p.Leu189fs)	rs1312967591	0.00002
NM_000275.3(OCA2):c.1842+1G>T	rs387906240	0.00001
NM_000275.3(OCA2):c.1504-12_1504-9del	rs886051022
NM_000275.3(OCA2):c.1911_1914del (p.Phe638fs)
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs)	rs1595660890
NM_000275.3(OCA2):c.2055del (p.Phe685fs)	rs772595552
NM_000275.3(OCA2):c.2216T>C (p.Ile739Thr)
NM_000275.3(OCA2):c.2432+1G>A
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)

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