ClinVar Miner

List of variants in gene OPTN reported as likely benign for Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959 0.00108
NM_001008212.2(OPTN):c.606G>A (p.Thr202=) rs143437860 0.00038
NM_001008212.2(OPTN):c.1559G>A (p.Arg520His) rs200088838 0.00033
NM_001008212.2(OPTN):c.1243-11T>G rs371605680 0.00026
NM_001008212.2(OPTN):c.882+19C>T rs2277219 0.00015
NM_001008212.2(OPTN):c.909C>A (p.Asn303Lys) rs200114679 0.00015
NM_001008212.2(OPTN):c.779+10A>G rs200899194 0.00011
NM_001008212.2(OPTN):c.1401+21C>G rs553828705 0.00008
NM_001008212.2(OPTN):c.573A>G (p.Ser191=) rs773095721 0.00006
NM_001008212.2(OPTN):c.1713C>T (p.His571=) rs187326591 0.00005
NM_001008212.2(OPTN):c.408G>A (p.Ala136=) rs144561412 0.00005
NM_001008212.2(OPTN):c.553-17C>T rs201995280 0.00005
NM_001008212.2(OPTN):c.490C>T (p.Leu164=) rs144640313 0.00004
NM_001008212.2(OPTN):c.597T>C (p.Pro199=) rs373699827 0.00004
NM_001008212.2(OPTN):c.883-9G>A rs372118360 0.00004
NM_001008212.2(OPTN):c.1269G>A (p.Leu423=) rs769491262 0.00003
NM_001008212.2(OPTN):c.1533-10G>A rs202006990 0.00003
NM_001008212.2(OPTN):c.448C>T (p.Leu150=) rs768270236 0.00003
NM_001008212.2(OPTN):c.675C>T (p.Tyr225=) rs745394420 0.00003
NM_001008212.2(OPTN):c.882+20G>A rs758172702 0.00003
NM_001008212.2(OPTN):c.1324C>T (p.Leu442=) rs367641761 0.00002
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=) rs771316696 0.00002
NM_001008212.2(OPTN):c.1612+17C>T rs767328211 0.00002
NM_001008212.2(OPTN):c.480C>T (p.Ile160=) rs146593599 0.00002
NM_001008212.2(OPTN):c.513C>T (p.Ser171=) rs369760173 0.00002
NM_001008212.2(OPTN):c.718C>T (p.Leu240=) rs372486382 0.00002
NM_001008212.2(OPTN):c.883-10C>T rs774128248 0.00002
NM_001008212.2(OPTN):c.883-17G>T rs561692004 0.00002
NM_001008212.2(OPTN):c.1038A>T (p.Ser346=) rs181131178 0.00001
NM_001008212.2(OPTN):c.1071T>C (p.Thr357=) rs2539067230 0.00001
NM_001008212.2(OPTN):c.1128G>A (p.Gln376=) rs780536013 0.00001
NM_001008212.2(OPTN):c.1320A>G (p.Lys440=) rs1459115466 0.00001
NM_001008212.2(OPTN):c.1372C>T (p.Leu458=) rs760304751 0.00001
NM_001008212.2(OPTN):c.1386C>T (p.Thr462=) rs765547990 0.00001
NM_001008212.2(OPTN):c.1428T>C (p.His476=) rs767738080 0.00001
NM_001008212.2(OPTN):c.1443G>A (p.Ala481=) rs370287061 0.00001
NM_001008212.2(OPTN):c.1532+14A>G rs1402791510 0.00001
NM_001008212.2(OPTN):c.1612+9C>T rs763985749 0.00001
NM_001008212.2(OPTN):c.1722T>C (p.Asp574=) rs1470603982 0.00001
NM_001008212.2(OPTN):c.435C>T (p.Thr145=) rs1042488570 0.00001
NM_001008212.2(OPTN):c.444G>A (p.Val148=) rs780011442 0.00001
NM_001008212.2(OPTN):c.528T>C (p.Asp176=) rs754892837 0.00001
NM_001008212.2(OPTN):c.582A>G (p.Glu194=) rs776613114 0.00001
NM_001008212.2(OPTN):c.626+18C>T rs754267730 0.00001
NM_001008212.2(OPTN):c.729G>T (p.Gly243=) rs1313009234 0.00001
NM_001008212.2(OPTN):c.804A>C (p.Thr268=) rs2539062179 0.00001
NM_001008212.2(OPTN):c.891C>T (p.Ser297=) rs200169099 0.00001
NM_001008212.2(OPTN):c.924T>G (p.Ser308=) rs779638416 0.00001
NM_001008212.2(OPTN):c.1077A>G (p.Lys359=)
NM_001008212.2(OPTN):c.1107A>G (p.Leu369=) rs149806984
NM_001008212.2(OPTN):c.1149-13T>A rs1833449149
NM_001008212.2(OPTN):c.1243-4T>G rs2539070735
NM_001008212.2(OPTN):c.1254G>A (p.Val418=)
NM_001008212.2(OPTN):c.1329A>G (p.Gln443=)
NM_001008212.2(OPTN):c.1401+19C>T
NM_001008212.2(OPTN):c.1401+9C>T rs375398306
NM_001008212.2(OPTN):c.1532+10AG[3] rs374302388
NM_001008212.2(OPTN):c.1578T>C (p.Ser526=)
NM_001008212.2(OPTN):c.1612+17C>A rs767328211
NM_001008212.2(OPTN):c.1613-13T>C rs1833708819
NM_001008212.2(OPTN):c.1642C>A (p.Arg548=) rs767360238
NM_001008212.2(OPTN):c.1653G>A (p.Pro551=) rs563795803
NM_001008212.2(OPTN):c.1653G>T (p.Pro551=) rs563795803
NM_001008212.2(OPTN):c.1674T>C (p.Cys558=) rs1833710699
NM_001008212.2(OPTN):c.370-13T>C rs1410187067
NM_001008212.2(OPTN):c.370-13T>G
NM_001008212.2(OPTN):c.552+11G>C rs1015367767
NM_001008212.2(OPTN):c.553-12C>T rs2539051037
NM_001008212.2(OPTN):c.612A>G (p.Thr204=) rs1588441388
NM_001008212.2(OPTN):c.621T>C (p.Thr207=)
NM_001008212.2(OPTN):c.626+14G>A
NM_001008212.2(OPTN):c.626+17T>A rs2539051300
NM_001008212.2(OPTN):c.627-16C>T rs769726736
NM_001008212.2(OPTN):c.627-7T>C
NM_001008212.2(OPTN):c.633G>A (p.Leu211=) rs761224831
NM_001008212.2(OPTN):c.678C>T (p.Phe226=) rs560438634
NM_001008212.2(OPTN):c.759A>C (p.Ala253=) rs147991854
NM_001008212.2(OPTN):c.759A>G (p.Ala253=)
NM_001008212.2(OPTN):c.762C>T (p.Leu254=) rs1833282939
NM_001008212.2(OPTN):c.822T>A (p.Ile274=) rs747912539
NM_001008212.2(OPTN):c.843C>T (p.Ser281=) rs1833370843
NM_001008212.2(OPTN):c.883-10C>G
NM_001008212.2(OPTN):c.883-6T>C rs1588446686
NM_001008212.2(OPTN):c.998+18A>G rs1833410378
NM_001008212.2(OPTN):c.998+19T>C rs1833410442
NM_001008212.2(OPTN):c.999-16T>A
NM_001008212.2(OPTN):c.999-16T>C rs373405178
NM_001008212.2(OPTN):c.999-20G>A rs2539067046

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.