List of variants reported as pathogenic for oculocutaneous albinism type 2 by Genome-Nilou Lab

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Total variants: 7

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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.1465A>G (p.Asn489Asp)	rs121918170	0.00043
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)	rs121918167	0.00023
NM_000275.3(OCA2):c.1182+1G>A	rs371963034	0.00014
NM_000275.3(OCA2):c.157del (p.Arg53fs)	rs758894409	0.00003
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs)	rs771620099
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)	rs797044784

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