List of variants in gene OCA2 reported as benign for Tyrosinase-positive oculocutaneous albinism

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: 23

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HGVS	dbSNP	gnomAD frequency
NM_000275.3(OCA2):c.2244+25C>G	rs7175046	0.78077
NM_000275.3(OCA2):c.1183-4A>G	rs10852218	0.71746
NM_000275.3(OCA2):c.1785-47A>G	rs7170989	0.60954
NM_000275.3(OCA2):c.1065G>A (p.Ala355=)	rs1800404	0.59023
NM_000275.3(OCA2):c.1551C>T (p.Cys517=)	rs1800411	0.54427
NM_000275.3(OCA2):c.1365-15C>T	rs12910433	0.51222
NM_000275.3(OCA2):c.2328T>C (p.Ala776=)	rs1800419	0.47440
NM_000275.3(OCA2):c.2364G>A (p.Ser788=)	rs12592307	0.19938
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp)	rs1800401	0.07659
NM_000275.3(OCA2):c.2058A>C (p.Ala686=)	rs1800416	0.05476
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln)	rs1800407	0.04917
NM_000275.3(OCA2):c.*50A>G	rs7175266	0.02314
NM_000275.3(OCA2):c.2165T>C (p.Ile722Thr)	rs1800417	0.01681
NM_000275.3(OCA2):c.1113C>T (p.Gly371=)	rs1800405	0.01593
NM_000275.3(OCA2):c.1844A>G (p.His615Arg)	rs1800414	0.01432
NM_000275.3(OCA2):c.1887G>T (p.Val629=)	rs1800415	0.01098
NM_000275.3(OCA2):c.1752C>T (p.His584=)	rs151225947	0.00803
NM_000275.3(OCA2):c.1007C>T (p.Ala336Val)	rs34010619	0.00755
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)	rs74653330	0.00630
NM_000275.3(OCA2):c.1026C>T (p.Tyr342=)	rs1800403	0.00182
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met)	rs150335311	0.00019
NM_000275.3(OCA2):c.2208G>A (p.Ser736=)	rs1800418
NM_000275.3(OCA2):c.722C>G (p.Pro241Arg)	rs2305253

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