ClinVar Miner

List of variants in gene MYOC reported by ClinGen Glaucoma Variant Curation Expert Panel

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 265
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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.1499A>G (p.Lys500Arg) rs145977437 0.00192
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.985G>A (p.Val329Met) rs146391864 0.00086
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.1334C>T (p.Ala445Val) rs140967767 0.00035
NM_000261.2(MYOC):c.1317C>T (p.Val439=) rs2234928 0.00030
NM_000261.2(MYOC):c.440G>A (p.Arg147Gln) rs114283307 0.00029
NM_000261.2(MYOC):c.1058C>T (p.Thr353Ile) rs137853277 0.00028
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.376C>T (p.Arg126Trp) rs200120115 0.00014
NM_000261.2(MYOC):c.1258A>T (p.Asn420Tyr) rs150438494 0.00013
NM_000261.2(MYOC):c.1464C>T (p.Ala488=) rs2234929 0.00009
NM_000261.2(MYOC):c.369C>T (p.Thr123=) rs75682756 0.00009
NM_000261.2(MYOC):c.244C>T (p.Arg82Cys) rs764005392 0.00008
NM_000261.2(MYOC):c.1265G>A (p.Arg422His) rs201573718 0.00006
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.1130C>T (p.Thr377Met) rs566289099 0.00004
NM_000261.2(MYOC):c.611C>T (p.Thr204Met) rs61753850 0.00004
NM_000261.2(MYOC):c.1264C>T (p.Arg422Cys) rs751113505 0.00003
NM_000261.2(MYOC):c.1412A>G (p.Tyr471Cys) rs554235897 0.00003
NM_000261.2(MYOC):c.271C>T (p.Arg91Ter) rs143413116 0.00003
NM_000261.2(MYOC):c.1196G>T (p.Gly399Val) rs28936694 0.00002
NM_000261.2(MYOC):c.1345G>A (p.Val449Ile) rs572512491 0.00002
NM_000261.2(MYOC):c.158T>C (p.Val53Ala) rs200208925 0.00002
NM_000261.2(MYOC):c.865G>A (p.Asp289Asn) rs767627671 0.00002
NM_000261.2(MYOC):c.898G>A (p.Glu300Lys) rs748621461 0.00002
NM_000261.2(MYOC):c.114G>A (p.Arg38=) rs767644139 0.00001
NM_000261.2(MYOC):c.1150G>A (p.Asp384Asn) rs1652918497 0.00001
NM_000261.2(MYOC):c.1272G>C (p.Gln424His) rs760065904 0.00001
NM_000261.2(MYOC):c.1279G>A (p.Ala427Thr) rs754237376 0.00001
NM_000261.2(MYOC):c.1288T>C (p.Phe430Leu) rs1652914106 0.00001
NM_000261.2(MYOC):c.1408C>T (p.Arg470Cys) rs771122834 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.547G>A (p.Gly183Ser) rs777142456 0.00001
NM_000261.2(MYOC):c.652G>A (p.Glu218Lys) rs200547613 0.00001
NM_000261.2(MYOC):c.731G>T (p.Gly244Val) rs757769997 0.00001
NM_000261.2(MYOC):c.767C>T (p.Thr256Met) rs200072086 0.00001
NM_000261.2(MYOC):c.856T>C (p.Trp286Arg) rs1351328951 0.00001
NM_000261.2(MYOC):c.992C>T (p.Ser331Leu) rs775982158 0.00001
NM_000261.2(MYOC):c.1001T>C (p.Leu334Pro)
NM_000261.2(MYOC):c.1008C>T (p.Phe336=)
NM_000261.2(MYOC):c.1009C>G (p.Gln337Glu)
NM_000261.2(MYOC):c.1009del (p.Gln337fs) rs2102944704
NM_000261.2(MYOC):c.1010A>G (p.Gln337Arg) rs74315335
NM_000261.2(MYOC):c.1011G>T (p.Gln337His)
NM_000261.2(MYOC):c.1020G>A (p.Glu340=)
NM_000261.2(MYOC):c.1021T>C (p.Ser341Pro) rs1572210748
NM_000261.2(MYOC):c.1024A>G (p.Arg342Gly)
NM_000261.2(MYOC):c.1025G>A (p.Arg342Lys)
NM_000261.2(MYOC):c.1028C>A (p.Thr343Asn)
NM_000261.2(MYOC):c.1035A>G (p.Ile345Met)
NM_000261.2(MYOC):c.1037G>C (p.Arg346Thr)
NM_000261.2(MYOC):c.1079T>A (p.Ile360Asn) rs1652920956
NM_000261.2(MYOC):c.1081C>T (p.Pro361Ser)
NM_000261.2(MYOC):c.1085del (p.Gly362fs)
NM_000261.2(MYOC):c.1087G>A (p.Ala363Thr) rs2102944665
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.1100_1103delinsT (p.Gly367_Gln368delinsVal) rs2102944655
NM_000261.2(MYOC):c.1105T>C (p.Phe369Leu)
NM_000261.2(MYOC):c.1107C>G (p.Phe369Leu)
NM_000261.2(MYOC):c.1109C>T (p.Pro370Leu) rs74315330
NM_000261.2(MYOC):c.1110G>A (p.Pro370=)
NM_000261.2(MYOC):c.1111T>C (p.Tyr371His) rs878854408
NM_000261.2(MYOC):c.1111T>G (p.Tyr371Asp)
NM_000261.2(MYOC):c.1119G>A (p.Trp373Ter) rs989306028
NM_000261.2(MYOC):c.1121G>T (p.Gly374Val)
NM_000261.2(MYOC):c.1130C>A (p.Thr377Lys)
NM_000261.2(MYOC):c.1130C>G (p.Thr377Arg)
NM_000261.2(MYOC):c.1133A>G (p.Asp378Gly)
NM_000261.2(MYOC):c.1136T>C (p.Ile379Thr)
NM_000261.2(MYOC):c.1138G>A (p.Asp380Asn) rs121909194
NM_000261.2(MYOC):c.1138G>C (p.Asp380His) rs121909194
NM_000261.2(MYOC):c.1138G>T (p.Asp380Tyr) rs121909194
NM_000261.2(MYOC):c.1139A>C (p.Asp380Ala) rs2102944632
NM_000261.2(MYOC):c.1139A>G (p.Asp380Gly) rs2102944632
NM_000261.2(MYOC):c.1150G>C (p.Asp384His)
NM_000261.2(MYOC):c.1151A>G (p.Asp384Gly)
NM_000261.2(MYOC):c.1153G>A (p.Glu385Lys) rs1033533679
NM_000261.2(MYOC):c.1160G>A (p.Gly387Asp)
NM_000261.2(MYOC):c.116A>G (p.Lys39Arg)
NM_000261.2(MYOC):c.1178G>A (p.Ser393Asn)
NM_000261.2(MYOC):c.1179C>G (p.Ser393Arg)
NM_000261.2(MYOC):c.1182C>T (p.Thr394=)
NM_000261.2(MYOC):c.1183G>A (p.Asp395Asn)
NM_000261.2(MYOC):c.1185T>G (p.Asp395Glu)
NM_000261.2(MYOC):c.1187_1188insCCCAGA (p.Asp395_Glu396insAspPro) rs2102944613
NM_000261.2(MYOC):c.1187_1189dup (p.Glu396dup) rs2102944606
NM_000261.2(MYOC):c.1196G>A (p.Gly399Asp)
NM_000261.2(MYOC):c.11T>C (p.Phe4Ser)
NM_000261.2(MYOC):c.1209C>T (p.Leu403=)
NM_000261.2(MYOC):c.1239C>T (p.Leu413=)
NM_000261.2(MYOC):c.1240G>A (p.Glu414Lys)
NM_000261.2(MYOC):c.1255A>G (p.Thr419Ala)
NM_000261.2(MYOC):c.1267A>C (p.Lys423Gln)
NM_000261.2(MYOC):c.1267A>G (p.Lys423Glu) rs74315336
NM_000261.2(MYOC):c.1274C>G (p.Ser425Ter)
NM_000261.2(MYOC):c.1276G>T (p.Val426Phe) rs2102944566
NM_000261.2(MYOC):c.1278C>T (p.Val426=) rs1183498744
NM_000261.2(MYOC):c.1290C>T (p.Phe430=)
NM_000261.2(MYOC):c.1297T>C (p.Cys433Arg) rs74315338
NM_000261.2(MYOC):c.1298G>A (p.Cys433Tyr)
NM_000261.2(MYOC):c.1300G>A (p.Gly434Ser) rs1200513428
NM_000261.2(MYOC):c.1302C>T (p.Gly434=)
NM_000261.2(MYOC):c.1309T>C (p.Tyr437His) rs74315328
NM_000261.2(MYOC):c.1313C>T (p.Thr438Ile)
NM_000261.2(MYOC):c.1314C>T (p.Thr438=)
NM_000261.2(MYOC):c.1317C>G (p.Val439=)
NM_000261.2(MYOC):c.1339G>A (p.Ala447Thr)
NM_000261.2(MYOC):c.1340C>T (p.Ala447Val)
NM_000261.2(MYOC):c.1342A>C (p.Thr448Pro)
NM_000261.2(MYOC):c.1348A>G (p.Asn450Asp)
NM_000261.2(MYOC):c.1348A>T (p.Asn450Tyr)
NM_000261.2(MYOC):c.1349A>G (p.Asn450Ser)
NM_000261.2(MYOC):c.1357del (p.Tyr453fs) rs576458696
NM_000261.2(MYOC):c.1364C>A (p.Thr455Lys)
NM_000261.2(MYOC):c.1373G>A (p.Gly458Asp)
NM_000261.2(MYOC):c.1395C>G (p.Ile465Met)
NM_000261.2(MYOC):c.141C>T (p.Cys47=)
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.1432G>T (p.Asp478Tyr)
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.1440C>G (p.Asn480Lys) rs74315332
NM_000261.2(MYOC):c.1441C>A (p.Pro481Thr) rs763068244
NM_000261.2(MYOC):c.1441C>T (p.Pro481Ser) rs763068244
NM_000261.2(MYOC):c.1442C>G (p.Pro481Arg) rs2102944466
NM_000261.2(MYOC):c.1442C>T (p.Pro481Leu) rs2102944466
NM_000261.2(MYOC):c.1447G>T (p.Glu483Ter)
NM_000261.2(MYOC):c.1452G>A (p.Lys484=)
NM_000261.2(MYOC):c.1456C>T (p.Leu486Phe)
NM_000261.2(MYOC):c.1463C>T (p.Ala488Val)
NM_000261.2(MYOC):c.1466G>A (p.Trp489Ter)
NM_000261.2(MYOC):c.1466_1467insC (p.Trp489fs)
NM_000261.2(MYOC):c.1483G>A (p.Val495Ile) rs2102944447
NM_000261.2(MYOC):c.1486A>C (p.Thr496Pro)
NM_000261.2(MYOC):c.1492G>C (p.Asp498His)
NM_000261.2(MYOC):c.1495A>T (p.Ile499Phe) rs2102944440
NM_000261.2(MYOC):c.1496T>G (p.Ile499Ser) rs2102944438
NM_000261.2(MYOC):c.14G>A (p.Cys5Tyr)
NM_000261.2(MYOC):c.1504T>C (p.Ser502Pro) rs2102944436
NM_000261.2(MYOC):c.1515A>G (p.Ter505Trp)
NM_000261.2(MYOC):c.154A>G (p.Ser52Gly)
NM_000261.2(MYOC):c.164G>C (p.Ser55Thr)
NM_000261.2(MYOC):c.169A>G (p.Asn57Asp)
NM_000261.2(MYOC):c.20G>A (p.Arg7His)
NM_000261.2(MYOC):c.210C>T (p.Val70=)
NM_000261.2(MYOC):c.216T>G (p.His72Gln)
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.24C>A (p.Cys8Ter)
NM_000261.2(MYOC):c.26G>C (p.Cys9Ser)
NM_000261.2(MYOC):c.284T>C (p.Leu95Pro) rs2102951436
NM_000261.2(MYOC):c.303A>G (p.Gln101=)
NM_000261.2(MYOC):c.304T>A (p.Leu102Met) rs140017103
NM_000261.2(MYOC):c.309C>T (p.Thr103=)
NM_000261.2(MYOC):c.31T>C (p.Phe11Leu) rs1653382463
NM_000261.2(MYOC):c.343G>A (p.Glu115Lys)
NM_000261.2(MYOC):c.343G>T (p.Glu115Ter) rs757551979
NM_000261.2(MYOC):c.365G>A (p.Gly122Asp) rs1395679980
NM_000261.2(MYOC):c.365G>C (p.Gly122Ala)
NM_000261.2(MYOC):c.365G>T (p.Gly122Val) rs1395679980
NM_000261.2(MYOC):c.366C>A (p.Gly122=)
NM_000261.2(MYOC):c.372G>C (p.Leu124=)
NM_000261.2(MYOC):c.375del (p.Arg125fs)
NM_000261.2(MYOC):c.382C>T (p.Arg128Trp)
NM_000261.2(MYOC):c.384G>C (p.Arg128=)
NM_000261.2(MYOC):c.38C>T (p.Pro13Leu)
NM_000261.2(MYOC):c.402A>G (p.Gln134=)
NM_000261.2(MYOC):c.407G>T (p.Arg136Ile)
NM_000261.2(MYOC):c.423C>T (p.Ala141=)
NM_000261.2(MYOC):c.42G>A (p.Glu14=)
NM_000261.2(MYOC):c.468G>A (p.Lys156=)
NM_000261.2(MYOC):c.484_486dup (p.Glu162_Asn163insGlu)
NM_000261.2(MYOC):c.498G>C (p.Leu166=)
NM_000261.2(MYOC):c.504G>A (p.Arg168=)
NM_000261.2(MYOC):c.518G>C (p.Ser173Thr)
NM_000261.2(MYOC):c.526del (p.Glu176fs) rs779307074
NM_000261.2(MYOC):c.532G>A (p.Ala178Thr)
NM_000261.2(MYOC):c.539T>A (p.Leu180Gln)
NM_000261.2(MYOC):c.55C>A (p.Gln19Lys)
NM_000261.2(MYOC):c.56_72dup (p.Cys25fs)
NM_000261.2(MYOC):c.573T>A (p.Thr191=) rs145981631
NM_000261.2(MYOC):c.57G>T (p.Gln19His) rs2234925
NM_000261.2(MYOC):c.599del (p.Arg200fs)
NM_000261.2(MYOC):c.600A>G (p.Arg200=) rs1653365419
NM_000261.2(MYOC):c.604+1G>C rs751094099
NM_000261.2(MYOC):c.608C>T (p.Ser203Phe) rs2102945654
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.622G>T (p.Asp208Tyr)
NM_000261.2(MYOC):c.626C>A (p.Thr209Asn)
NM_000261.2(MYOC):c.644T>A (p.Leu215Gln)
NM_000261.2(MYOC):c.644T>C (p.Leu215Pro)
NM_000261.2(MYOC):c.654G>A (p.Glu218=)
NM_000261.2(MYOC):c.667C>T (p.Pro223Ser)
NM_000261.2(MYOC):c.683T>C (p.Leu228Ser)
NM_000261.2(MYOC):c.713G>A (p.Ser238Asn)
NM_000261.2(MYOC):c.719A>G (p.Glu240Gly)
NM_000261.2(MYOC):c.728C>A (p.Thr243Asn) rs781655611
NM_000261.2(MYOC):c.731G>C (p.Gly244Ala)
NM_000261.2(MYOC):c.733T>G (p.Cys245Gly)
NM_000261.2(MYOC):c.734G>A (p.Cys245Tyr) rs74315340
NM_000261.2(MYOC):c.736G>A (p.Gly246Arg) rs2102944873
NM_000261.2(MYOC):c.73T>C (p.Cys25Arg)
NM_000261.2(MYOC):c.741del (p.Glu247fs)
NM_000261.2(MYOC):c.752T>C (p.Val251Ala) rs2102944863
NM_000261.2(MYOC):c.754G>A (p.Gly252Arg) rs74315341
NM_000261.2(MYOC):c.757G>A (p.Glu253Lys)
NM_000261.2(MYOC):c.760C>A (p.Pro254Thr)
NM_000261.2(MYOC):c.761C>G (p.Pro254Arg)
NM_000261.2(MYOC):c.761C>T (p.Pro254Leu) rs2102944853
NM_000261.2(MYOC):c.764T>C (p.Leu255Pro)
NM_000261.2(MYOC):c.780A>G (p.Ala260=)
NM_000261.2(MYOC):c.781G>A (p.Glu261Lys)
NM_000261.2(MYOC):c.798G>A (p.Lys266=)
NM_000261.2(MYOC):c.814C>G (p.Arg272Gly) rs202176570
NM_000261.2(MYOC):c.814C>T (p.Arg272Ter)
NM_000261.2(MYOC):c.816A>T (p.Arg272=)
NM_000261.2(MYOC):c.821C>G (p.Pro274Arg)
NM_000261.2(MYOC):c.822del (p.Lys275fs)
NM_000261.2(MYOC):c.823A>T (p.Lys275Ter) rs879255525
NM_000261.2(MYOC):c.844del (p.Gln282fs) rs774268708
NM_000261.2(MYOC):c.849G>A (p.Glu283=)
NM_000261.2(MYOC):c.854C>T (p.Thr285Met)
NM_000261.2(MYOC):c.864C>G (p.Ile288Met)
NM_000261.2(MYOC):c.868A>G (p.Thr290Ala)
NM_000261.2(MYOC):c.871G>A (p.Val291Ile) rs886045565
NM_000261.2(MYOC):c.879G>A (p.Thr293=)
NM_000261.2(MYOC):c.886C>T (p.Arg296Cys)
NM_000261.2(MYOC):c.887G>A (p.Arg296His)
NM_000261.2(MYOC):c.891G>C (p.Gln297His)
NM_000261.2(MYOC):c.897T>C (p.Phe299=)
NM_000261.2(MYOC):c.898G>T (p.Glu300Ter) rs748621461
NM_000261.2(MYOC):c.906C>T (p.Asp302=)
NM_000261.2(MYOC):c.907C>A (p.Leu303Ile)
NM_000261.2(MYOC):c.938C>T (p.Ser313Phe)
NM_000261.2(MYOC):c.952C>T (p.Leu318=)
NM_000261.2(MYOC):c.960G>A (p.Arg320=)
NM_000261.2(MYOC):c.967G>A (p.Glu323Lys) rs1652924886
NM_000261.2(MYOC):c.974C>T (p.Thr325Met)
NM_000261.2(MYOC):c.976G>A (p.Gly326Ser)
NM_000261.2(MYOC):c.976G>C (p.Gly326Arg) rs1447891498
NM_000261.2(MYOC):c.98G>A (p.Arg33Lys)
NM_000261.2(MYOC):c.991T>A (p.Ser331Thr)
NM_000261.2(MYOC):c.997A>T (p.Ser333Cys)

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