List of variants in gene OCA2 reported by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_000275.3(OCA2):c.2328T>C (p.Ala776=)	rs1800419	0.47440
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp)	rs1800401	0.07659
NM_000275.3(OCA2):c.796C>T (p.Arg266Trp)	rs33929465	0.00876
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	rs121918166	0.00350
NM_000275.3(OCA2):c.*54A>G	rs192734230	0.00144
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.1663C>T (p.Arg555Cys)	rs141611162	0.00021
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	rs141949212	0.00021
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys)	rs138065338	0.00018
NM_000275.3(OCA2):c.1239+5G>C	rs757119713	0.00016
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)	rs200764804	0.00010
NM_000275.3(OCA2):c.1503+5G>A	rs368124046	0.00008
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)	rs142988897	0.00006
NM_000275.3(OCA2):c.41C>T (p.Ala14Val)	rs763734477	0.00006
NM_000275.3(OCA2):c.1261C>T (p.Arg421Trp)	rs372899234	0.00005
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)	rs200457227	0.00004
NM_000275.3(OCA2):c.157del (p.Arg53fs)	rs758894409	0.00003
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)	rs776814755	0.00001
NM_000275.3(OCA2):c.807+1G>T	rs763219039	0.00001
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly)	rs769408559	0.00001
NM_000275.3(OCA2):c.943C>T (p.Pro315Ser)	rs201481836	0.00001
NM_000275.3(OCA2):c.224G>A (p.Gly75Glu)	rs2141895899
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)	rs767489236
NM_000275.3(OCA2):c.849C>A (p.Ser283Arg)	rs143320446

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