ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 20
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NM_001008211.1(OPTN):c.-382T>C rs71492279
NM_001008211.1(OPTN):c.-448G>T rs3814657
NM_001008212.2(OPTN):c.*1251C>G rs542617940
NM_001008212.2(OPTN):c.*1421T>G rs12415716
NM_001008212.2(OPTN):c.*269C>T rs111484304
NM_001008212.2(OPTN):c.*562T>G rs148646641
NM_001008212.2(OPTN):c.-164+13A>G rs556917167
NM_001008212.2(OPTN):c.-215G>A rs11548142
NM_001008212.2(OPTN):c.-255C>G rs2580915
NM_001008212.2(OPTN):c.-274C>A rs552494483
NM_001008212.2(OPTN):c.1612+10G>A rs191671333
NM_001008212.2(OPTN):c.402C>A (p.Ala134=) rs113955718
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944
NM_001008212.2(OPTN):c.444G>A (p.Val148=) rs780011442
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959
NM_001008212.2(OPTN):c.553-10G>A rs11258210
NM_001008212.2(OPTN):c.553-5C>T rs2244380
NM_001008212.2(OPTN):c.627-10T>C rs80327830
NM_001008212.2(OPTN):c.963C>T (p.Ser321=) rs150381274
NM_001008212.2(OPTN):c.964= (p.Glu322=)

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