ClinVar Miner

List of variants reported as likely benign for Primary open angle glaucoma

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Total variants: 13
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HGVS dbSNP
NM_001008211.1(OPTN):c.-454C>T rs570587258
NM_001008212.2(OPTN):c.1532+10AG[3] rs374302388
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=) rs771316696
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp)
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194
NM_001008212.2(OPTN):c.447G>A (p.Arg149=) rs555741399
NM_001008212.2(OPTN):c.573A>G (p.Ser191=) rs773095721
NM_001008212.2(OPTN):c.812G>A (p.Arg271His)
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp)
NM_139281.2(WDR36):c.*1080dup rs200793653
NM_139281.2(WDR36):c.*3631C>T rs565965136
NM_139281.2(WDR36):c.331-7dup rs201659734

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