List of variants in gene OCA2 reported as likely 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)	rs61745150	0.00086
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)	rs144812594	0.00023
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	rs141949212	0.00021
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)	rs765779905	0.00009
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)	rs121918169	0.00005
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu)	rs757286784	0.00004
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)	rs780296175	0.00003
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg)	rs797045839	0.00002
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg)	rs747214535
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg)	rs779850564
NM_000275.3(OCA2):c.2012A>T (p.Glu671Val)	rs797045838
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)	rs767489236

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