List of variants in gene OPTN reported as benign for Primary open angle glaucoma

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001008212.2(OPTN):c.553-5C>T	rs2244380	0.80823
NM_001008212.2(OPTN):c.*1421T>G	rs12415716	0.22947
NM_001008212.2(OPTN):c.*269C>T	rs111484304	0.01294
NM_001008212.2(OPTN):c.627-10T>C	rs80327830	0.00853
NM_001008212.2(OPTN):c.*562T>G	rs148646641	0.00706
NM_001008212.2(OPTN):c.963C>T (p.Ser321=)	rs150381274	0.00525
NM_001008212.2(OPTN):c.553-10G>A	rs11258210	0.00492
NM_001008212.2(OPTN):c.489A>G (p.Glu163=)	rs113811959	0.00108
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)	rs75654767	0.00101
NM_001008212.2(OPTN):c.1612+10G>A	rs191671333	0.00053
NM_001008212.2(OPTN):c.*1251C>G	rs542617940	0.00004
NM_001008212.2(OPTN):c.444G>A (p.Val148=)	rs780011442	0.00001
NM_001008212.2(OPTN):c.402C>A (p.Ala134=)	rs113955718
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)	rs140599944

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