List of variants reported as pathogenic for Tyrosinase-positive oculocutaneous albinism by OMIM

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)	rs74653330	0.00630
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	rs121918166	0.00350
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)	rs121918170	0.00043
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)	rs121918167	0.00023
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)	rs121918169	0.00005
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val)	rs121918168	0.00001
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile)	rs121918171	0.00001
NM_000275.3(OCA2):c.1842+1G>T	rs387906240	0.00001
NG_009846.1:g.103171_225796del
NM_000275.2(OCA2):c.646+1823_807+678delinsAAA	rs1555375711
NM_000275.3(OCA2):c.1960del (p.Ala654fs)	rs387906241
nsv1197574

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