ClinVar Miner

List of variants in gene MYOC studied for glaucoma 1, open angle, A

Included ClinVar conditions (1):
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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_000261.2(MYOC):c.227G>A (p.Arg76Lys) rs2234926 0.09970
NM_000261.2(MYOC):c.975G>A (p.Thr325=) rs61730976 0.02687
NM_000261.2(MYOC):c.39T>G (p.Pro13=) rs12082573 0.02291
NM_000261.2(MYOC):c.477A>G (p.Leu159=) rs61730977 0.02287
NM_000261.2(MYOC):c.1041T>C (p.Tyr347=) rs61730974 0.02199
NM_000261.2(MYOC):c.1188G>A (p.Glu396=) rs61730975 0.00852
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg) rs56314834 0.00406
NM_000261.2(MYOC):c.855G>T (p.Thr285=) rs146606638 0.00344
NM_000261.2(MYOC):c.366C>T (p.Gly122=) rs145354114 0.00244
NM_000261.2(MYOC):c.*426C>T rs142425726 0.00225
NM_000261.2(MYOC):c.*241A>G rs186880389 0.00096
NM_000261.2(MYOC):c.1054G>A (p.Glu352Lys) rs61745146 0.00093
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00089
NM_000261.2(MYOC):c.648G>A (p.Lys216=) rs141584495 0.00053
NM_000261.2(MYOC):c.878C>A (p.Thr293Lys) rs139122673 0.00047
NM_000261.2(MYOC):c.440G>A (p.Arg147Gln) rs114283307 0.00029
NM_000261.2(MYOC):c.624C>G (p.Asp208Glu) rs2234927 0.00027
NM_000261.2(MYOC):c.136C>T (p.Arg46Ter) rs74315337 0.00024
NM_000261.2(MYOC):c.1053C>T (p.Thr351=) rs202003673 0.00022
NM_000261.2(MYOC):c.34G>C (p.Gly12Arg) rs199752860 0.00016
NM_000261.2(MYOC):c.*273G>A rs748718270 0.00009
NM_000261.2(MYOC):c.369C>T (p.Thr123=) rs75682756 0.00009
NM_000261.2(MYOC):c.864C>T (p.Ile288=) rs181923440 0.00006
NM_000261.2(MYOC):c.568G>T (p.Asp190Tyr) rs201930435 0.00005
NM_000261.2(MYOC):c.801T>C (p.Tyr267=) rs750333892 0.00005
NM_000261.2(MYOC):c.*71G>A rs886045564 0.00004
NM_000261.2(MYOC):c.1130C>T (p.Thr377Met) rs566289099 0.00004
NM_000261.2(MYOC):c.611C>T (p.Thr204Met) rs61753850 0.00004
NM_000261.2(MYOC):c.*182C>A rs886045563 0.00003
NM_000261.2(MYOC):c.1345G>A (p.Val449Ile) rs572512491 0.00002
NM_000261.2(MYOC):c.865G>A (p.Asp289Asn) rs767627671 0.00002
NM_000261.2(MYOC):c.114G>A (p.Arg38=) rs767644139 0.00001
NM_000261.2(MYOC):c.1272G>C (p.Gln424His) rs760065904 0.00001
NM_000261.2(MYOC):c.1288T>C (p.Phe430Leu) rs1652914106 0.00001
NM_000261.2(MYOC):c.144G>T (p.Gln48His) rs74315339 0.00001
NM_000261.2(MYOC):c.335A>G (p.Glu112Gly) rs886045566 0.00001
NM_000261.2(MYOC):c.473G>A (p.Arg158Gln) rs199746824 0.00001
NM_000261.2(MYOC):c.652G>A (p.Glu218Lys) rs200547613 0.00001
NM_000261.2(MYOC):c.992C>T (p.Ser331Leu) rs775982158 0.00001
NM_000261.2(MYOC):c.*188C>T rs886045562
NM_000261.2(MYOC):c.*331A>G rs548121911
NM_000261.2(MYOC):c.*73G>C rs74403899
NM_000261.2(MYOC):c.1010A>G (p.Gln337Arg) rs74315335
NM_000261.2(MYOC):c.1091G>T (p.Gly364Val) rs121909193
NM_000261.2(MYOC):c.1099G>A (p.Gly367Arg) rs74315334
NM_000261.2(MYOC):c.1109C>T (p.Pro370Leu) rs74315330
NM_000261.2(MYOC):c.1138G>C (p.Asp380His) rs121909194
NM_000261.2(MYOC):c.1153G>A (p.Glu385Lys) rs1033533679
NM_000261.2(MYOC):c.1267A>G (p.Lys423Glu) rs74315336
NM_000261.2(MYOC):c.1297T>C (p.Cys433Arg) rs74315338
NM_000261.2(MYOC):c.1309T>C (p.Tyr437His) rs74315328
NM_000261.2(MYOC):c.1349A>G (p.Asn450Ser)
NM_000261.2(MYOC):c.1430T>A (p.Ile477Asn) rs74315331
NM_000261.2(MYOC):c.1430T>G (p.Ile477Ser) rs74315331
NM_000261.2(MYOC):c.1435T>C (p.Tyr479His) rs2102944475
NM_000261.2(MYOC):c.1440C>A (p.Asn480Lys) rs74315332
NM_000261.2(MYOC):c.224A>G (p.Gln75Arg) rs886045568
NM_000261.2(MYOC):c.239C>A (p.Thr80Asn) rs886045567
NM_000261.2(MYOC):c.304T>A (p.Leu102Met) rs140017103
NM_000261.2(MYOC):c.31T>C (p.Phe11Leu) rs1653382463
NM_000261.2(MYOC):c.358del (p.Glu120fs)
NM_000261.2(MYOC):c.472C>T (p.Arg158Ter)
NM_000261.2(MYOC):c.526del (p.Glu176fs) rs779307074
NM_000261.2(MYOC):c.573T>A (p.Thr191=) rs145981631
NM_000261.2(MYOC):c.600A>G (p.Arg200=) rs1653365419
NM_000261.2(MYOC):c.604+1G>C rs751094099
NM_000261.2(MYOC):c.612G>A (p.Thr204=) rs57824969
NM_000261.2(MYOC):c.612G>T (p.Thr204=) rs57824969
NM_000261.2(MYOC):c.728C>A (p.Thr243Asn) rs781655611
NM_000261.2(MYOC):c.734G>A (p.Cys245Tyr) rs74315340
NM_000261.2(MYOC):c.754G>A (p.Gly252Arg) rs74315341
NM_000261.2(MYOC):c.844del (p.Gln282fs) rs774268708
NM_000261.2(MYOC):c.871G>A (p.Val291Ile) rs886045565
NM_000261.2(MYOC):c.898G>T (p.Glu300Ter) rs748621461

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