List of variants in gene OCA2 reported as uncertain significance 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.79G>A (p.Gly27Arg)	rs61738394	0.00532
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile)	rs137956605	0.00213
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)	rs371412500	0.00032
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)	rs1800408	0.00024
NM_000275.3(OCA2):c.1239+5G>C	rs757119713	0.00016
NM_000275.3(OCA2):c.1201T>C (p.Phe401Leu)	rs145880356	0.00004
NM_000275.3(OCA2):c.1045-9T>G	rs755604671	0.00001
NM_000275.3(OCA2):c.1891G>A (p.Gly631Arg)	rs1555440003	0.00001
NM_000275.3(OCA2):c.535A>G (p.Lys179Glu)	rs1277911369	0.00001
NM_000275.3(OCA2):c.573+5G>A	rs1432628513	0.00001
NM_000275.3(OCA2):c.1843-9_1843-6del	rs2140620111
NM_000275.3(OCA2):c.2245-6C>G	rs368772032

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