List of variants in gene OCA2 reported as pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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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.1503+5G>A	rs368124046	0.00008
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser)	rs763819379	0.00001
NM_000275.3(OCA2):c.807+1G>T	rs763219039	0.00001
NM_000275.2(OCA2):c.647-?_807+?del
NM_000275.2(OCA2):c.647-?_890+?del
NM_000275.3(OCA2):c.121_128del (p.Gly41fs)	rs1555392037
NM_000275.3(OCA2):c.122del (p.Gly41fs)	rs1407174563
NM_000275.3(OCA2):c.171del (p.Gln58fs)	rs1555391997
NM_000275.3(OCA2):c.1808del (p.Asn603fs)	rs1476192724
NM_000275.3(OCA2):c.2080-1G>A	rs1555422232
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp)	rs987780496
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)	rs797044784
NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln)

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