List of variants in gene OCA2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)	rs61745150	0.00078
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)	rs183487020	0.00035
NM_000275.3(OCA2):c.2245-6C>A	rs368772032	0.00009
NM_000275.3(OCA2):c.793C>T (p.Arg265Trp)	rs750298814	0.00005
NM_000275.3(OCA2):c.1846A>G (p.Arg616Gly)	rs199980244	0.00001
NM_000275.3(OCA2):c.878A>G (p.Glu293Gly)	rs780995523	0.00001
NM_000275.3(OCA2):c.1138G>A (p.Val380Met)	rs41529845
NM_000275.3(OCA2):c.1465A>T (p.Asn489Tyr)	rs121918170
NM_000275.3(OCA2):c.1664G>C (p.Arg555Pro)	rs768169106
NM_000275.3(OCA2):c.1980G>T (p.Trp660Cys)	rs1567114551
NM_000275.3(OCA2):c.1983G>T (p.Leu661Phe)	rs2140372179
NM_000275.3(OCA2):c.46G>A (p.Ala16Thr)	rs2044640419
NM_000275.3(OCA2):c.573+6T>C	rs2042700750

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