List of variants in gene OCA2 reported as pathogenic by GeneDx

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: 19

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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.1103C>T (p.Ala368Val)	rs61745150	0.00086
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)	rs143218168	0.00054
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)	rs121918170	0.00043
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)	rs183487020	0.00031
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)	rs121918167	0.00023
NM_000275.3(OCA2):c.1239+5G>C	rs757119713	0.00016
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.2363C>T (p.Ser788Leu)	rs147736385	0.00004
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)	rs772019064	0.00003
NM_000275.3(OCA2):c.157del (p.Arg53fs)	rs758894409	0.00003
NM_000275.3(OCA2):c.2086_2095del (p.Ala696fs)	rs746307353	0.00003
NM_000275.3(OCA2):c.440dup (p.Ser148fs)	rs1057518192	0.00002
NM_000275.3(OCA2):c.1842+1G>T	rs387906240	0.00001
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs)	rs1595660890
NM_000275.3(OCA2):c.2338+2T>G	rs1064796956
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)	rs767489236
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)	rs797044784

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