ClinVar Miner

List of variants in gene COLQ reported as uncertain significance for Congenital myasthenic syndrome 5

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 210
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005677.4(COLQ):c.23C>G (p.Thr8Ser) rs189427175 0.00131
NM_005677.4(COLQ):c.106+6T>C rs201376373 0.00119
NM_005677.4(COLQ):c.167C>T (p.Pro56Leu) rs768517440 0.00051
NM_005677.4(COLQ):c.*421G>A rs533015053 0.00044
NM_005677.4(COLQ):c.*1248C>T rs373209743 0.00041
NM_005677.4(COLQ):c.1074+4C>T rs201227079 0.00041
NM_005677.4(COLQ):c.*516G>A rs544927968 0.00038
NM_005677.4(COLQ):c.242A>G (p.Asn81Ser) rs777215134 0.00038
NM_005677.4(COLQ):c.391A>G (p.Lys131Glu) rs142980906 0.00034
NM_005677.4(COLQ):c.561C>T (p.Ser187=) rs149370622 0.00034
NM_005677.4(COLQ):c.*407C>T rs569980572 0.00027
NM_005677.4(COLQ):c.737G>C (p.Gly246Ala) rs146687198 0.00023
NM_005677.4(COLQ):c.*169T>A rs550256310 0.00022
NM_005677.4(COLQ):c.*189C>T rs749985637 0.00022
NM_005677.4(COLQ):c.788C>T (p.Pro263Leu) rs146619514 0.00016
NM_005677.4(COLQ):c.1018C>T (p.Arg340Cys) rs138818971 0.00015
NM_005677.4(COLQ):c.*1292T>G rs886058093 0.00013
NM_005677.4(COLQ):c.*715G>A rs922188126 0.00013
NM_005677.4(COLQ):c.1087T>C (p.Tyr363His) rs756508281 0.00013
NM_005677.4(COLQ):c.*1408C>T rs989975589 0.00011
NM_005677.4(COLQ):c.1155G>C (p.Glu385Asp) rs116503231 0.00011
NM_005677.4(COLQ):c.812C>T (p.Ala271Val) rs373735085 0.00011
NM_005677.4(COLQ):c.117C>A (p.Ser39Arg) rs138891500 0.00009
NM_005677.4(COLQ):c.814+11C>T rs575840341 0.00009
NM_005677.4(COLQ):c.1117G>A (p.Gly373Ser) rs202019416 0.00008
NM_005677.4(COLQ):c.367-3T>C rs368112392 0.00008
NM_005677.4(COLQ):c.61G>A (p.Val21Met) rs142115188 0.00008
NM_005677.4(COLQ):c.*1277C>T rs572408115 0.00006
NM_005677.4(COLQ):c.1019G>A (p.Arg340His) rs375225755 0.00006
NM_005677.4(COLQ):c.1205G>A (p.Arg402His) rs140670616 0.00006
NM_005677.4(COLQ):c.1355G>A (p.Arg452His) rs754915644 0.00006
NM_005677.4(COLQ):c.707G>A (p.Arg236Gln) rs200770910 0.00006
NM_005677.4(COLQ):c.785G>A (p.Arg262His) rs201158622 0.00006
NM_005677.4(COLQ):c.912C>T (p.Tyr304=) rs886058099 0.00006
NM_005677.4(COLQ):c.944G>A (p.Arg315Gln) rs778740405 0.00006
NM_005677.4(COLQ):c.967A>T (p.Asn323Tyr) rs369551954 0.00006
NM_005677.4(COLQ):c.1195C>T (p.Arg399Cys) rs779594053 0.00005
NM_005677.4(COLQ):c.428C>A (p.Pro143His) rs373840796 0.00005
NM_005677.4(COLQ):c.*257G>A rs886058097 0.00004
NM_005677.4(COLQ):c.*276A>G rs766923758 0.00004
NM_005677.4(COLQ):c.*85G>A rs768534998 0.00004
NM_005677.4(COLQ):c.*993C>T rs886058095 0.00004
NM_005677.4(COLQ):c.1072C>G (p.Gln358Glu) rs372064982 0.00004
NM_005677.4(COLQ):c.1282G>A (p.Glu428Lys) rs141721093 0.00004
NM_005677.4(COLQ):c.133C>T (p.Arg45Cys) rs763096476 0.00004
NM_005677.4(COLQ):c.164C>T (p.Thr55Met) rs774271810 0.00004
NM_005677.4(COLQ):c.212G>A (p.Arg71Gln) rs775959815 0.00004
NM_005677.4(COLQ):c.71C>T (p.Pro24Leu) rs374642884 0.00004
NM_005677.4(COLQ):c.749C>T (p.Pro250Leu) rs200479277 0.00004
NM_005677.4(COLQ):c.794C>T (p.Pro265Leu) rs1366896613 0.00004
NM_005677.4(COLQ):c.*1490A>C rs751038602 0.00003
NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys) rs368932156 0.00003
NM_005677.4(COLQ):c.674G>C (p.Gly225Ala) rs780362486 0.00003
NM_005677.4(COLQ):c.*426G>A rs763440701 0.00002
NM_005677.4(COLQ):c.*736A>G rs1419160013 0.00002
NM_005677.4(COLQ):c.*751C>T rs368981773 0.00002
NM_005677.4(COLQ):c.1174G>A (p.Asp392Asn) rs749266800 0.00002
NM_005677.4(COLQ):c.282G>A (p.Met94Ile) rs764250328 0.00002
NM_005677.4(COLQ):c.393+3A>G rs1248479113 0.00002
NM_005677.4(COLQ):c.43C>T (p.Leu15Phe) rs762844921 0.00002
NM_005677.4(COLQ):c.476G>C (p.Gly159Ala) rs748461738 0.00002
NM_005677.4(COLQ):c.484G>T (p.Gly162Cys) rs376385207 0.00002
NM_005677.4(COLQ):c.517A>G (p.Met173Val) rs750324839 0.00002
NM_005677.4(COLQ):c.555G>A (p.Lys185=) rs750472473 0.00002
NM_005677.4(COLQ):c.569A>G (p.Glu190Gly) rs377364923 0.00002
NM_005677.4(COLQ):c.680G>A (p.Arg227Gln) rs764737302 0.00002
NM_005677.4(COLQ):c.769T>G (p.Ser257Ala) rs754017581 0.00002
NM_005677.4(COLQ):c.88G>A (p.Val30Ile) rs201234648 0.00002
NM_005677.4(COLQ):c.913G>A (p.Gly305Arg) rs1553634795 0.00002
NM_005677.4(COLQ):c.942G>A (p.Pro314=) rs771944316 0.00002
NM_005677.4(COLQ):c.954+6G>A rs749018849 0.00002
NM_005677.4(COLQ):c.*1280C>T rs146270961 0.00001
NM_005677.4(COLQ):c.*446A>C rs1308248041 0.00001
NM_005677.4(COLQ):c.*848C>T rs550045499 0.00001
NM_005677.4(COLQ):c.1006G>A (p.Ala336Thr) rs1221084401 0.00001
NM_005677.4(COLQ):c.1211A>G (p.Tyr404Cys) rs764064240 0.00001
NM_005677.4(COLQ):c.1214G>T (p.Cys405Phe) rs1336071409 0.00001
NM_005677.4(COLQ):c.1339G>A (p.Asp447Asn) rs770753693 0.00001
NM_005677.4(COLQ):c.1346C>T (p.Thr449Met) rs1015425548 0.00001
NM_005677.4(COLQ):c.1346del (p.Thr449fs) rs757053860 0.00001
NM_005677.4(COLQ):c.136G>A (p.Gly46Ser) rs981504781 0.00001
NM_005677.4(COLQ):c.16C>T (p.Pro6Ser) rs1314591935 0.00001
NM_005677.4(COLQ):c.188C>T (p.Pro63Leu) rs1553637369 0.00001
NM_005677.4(COLQ):c.19A>G (p.Met7Val) rs774887446 0.00001
NM_005677.4(COLQ):c.1A>G (p.Met1Val) rs754147251 0.00001
NM_005677.4(COLQ):c.241A>G (p.Asn81Asp) rs748826424 0.00001
NM_005677.4(COLQ):c.290C>T (p.Ser97Leu) rs531584926 0.00001
NM_005677.4(COLQ):c.380G>A (p.Arg127Gln) rs201856842 0.00001
NM_005677.4(COLQ):c.406C>T (p.Pro136Ser) rs1039189998 0.00001
NM_005677.4(COLQ):c.460C>G (p.Pro154Ala) rs755848079 0.00001
NM_005677.4(COLQ):c.465+5G>T rs1384588788 0.00001
NM_005677.4(COLQ):c.466-9T>G rs930607699 0.00001
NM_005677.4(COLQ):c.473A>C (p.Lys158Thr) rs1278879838 0.00001
NM_005677.4(COLQ):c.529-10T>A rs968125549 0.00001
NM_005677.4(COLQ):c.555+5G>T rs765867687 0.00001
NM_005677.4(COLQ):c.584G>A (p.Gly195Asp) rs764640385 0.00001
NM_005677.4(COLQ):c.610G>A (p.Gly204Arg) rs374783562 0.00001
NM_005677.4(COLQ):c.784C>T (p.Arg262Cys) rs1318954229 0.00001
NM_005677.4(COLQ):c.820C>T (p.Leu274Phe) rs763262836 0.00001
NM_005677.4(COLQ):c.833C>A (p.Pro278His) rs1341977323 0.00001
NM_005677.4(COLQ):c.914G>T (p.Gly305Val) rs763518486 0.00001
NM_005677.4(COLQ):c.918A>T (p.Glu306Asp) rs765680430 0.00001
NM_005677.4(COLQ):c.941C>T (p.Pro314Leu) rs370201862 0.00001
NM_005677.4(COLQ):c.954+1G>A rs757060689 0.00001
NC_000003.11:g.(?_15493151)_(15563132_?)dup
NC_000003.11:g.(?_15497396)_(15499842_?)del
NC_000003.12:g.(?_15451634)_(15521635_?)dup
NM_005677.4(COLQ):c.*1084G>A rs376202299
NM_005677.4(COLQ):c.*425C>T rs886058096
NM_005677.4(COLQ):c.*4C>T rs754063500
NM_005677.4(COLQ):c.*76C>A rs886058098
NM_005677.4(COLQ):c.*999G>A rs886058094
NM_005677.4(COLQ):c.-58A>G rs2063140701
NM_005677.4(COLQ):c.1016T>C (p.Phe339Ser) rs2062027386
NM_005677.4(COLQ):c.1021A>G (p.Arg341Gly) rs2062027221
NM_005677.4(COLQ):c.1031G>A (p.Arg344Lys) rs149532541
NM_005677.4(COLQ):c.103G>A (p.Ala35Thr) rs2125197454
NM_005677.4(COLQ):c.106+5A>G rs755773953
NM_005677.4(COLQ):c.107-2dup rs2062631055
NM_005677.4(COLQ):c.1075-11T>G
NM_005677.4(COLQ):c.1085T>C (p.Phe362Ser) rs754357969
NM_005677.4(COLQ):c.1090C>G (p.Pro364Ala) rs1357228486
NM_005677.4(COLQ):c.1102A>G (p.Thr368Ala) rs2062019023
NM_005677.4(COLQ):c.1106C>T (p.Ala369Val) rs970111842
NM_005677.4(COLQ):c.1120A>C (p.Thr374Pro) rs1553634628
NM_005677.4(COLQ):c.1162G>A (p.Asp388Asn) rs1008156537
NM_005677.4(COLQ):c.116G>T (p.Ser39Ile) rs1289941307
NM_005677.4(COLQ):c.1172_1173delinsAG (p.Ser391Lys) rs2125085391
NM_005677.4(COLQ):c.117C>T (p.Ser39=) rs138891500
NM_005677.4(COLQ):c.1186G>A (p.Asp396Asn) rs748582765
NM_005677.4(COLQ):c.1195C>G (p.Arg399Gly) rs779594053
NM_005677.4(COLQ):c.1214G>C (p.Cys405Ser)
NM_005677.4(COLQ):c.1232A>G (p.His411Arg)
NM_005677.4(COLQ):c.1254C>G (p.Asp418Glu)
NM_005677.4(COLQ):c.1255G>A (p.Gly419Ser)
NM_005677.4(COLQ):c.1313T>C (p.Leu438Pro)
NM_005677.4(COLQ):c.1318T>C (p.Cys440Arg)
NM_005677.4(COLQ):c.1319G>A (p.Cys440Tyr) rs2125077498
NM_005677.4(COLQ):c.1324_1326del (p.Gln442del) rs2125077483
NM_005677.4(COLQ):c.1338C>G (p.Ile446Met) rs73818504
NM_005677.4(COLQ):c.1345A>G (p.Thr449Ala)
NM_005677.4(COLQ):c.1348C>T (p.Pro450Ser) rs2061943968
NM_005677.4(COLQ):c.134G>A (p.Arg45His) rs761717418
NM_005677.4(COLQ):c.134G>C (p.Arg45Pro) rs761717418
NM_005677.4(COLQ):c.1352G>A (p.Cys451Tyr) rs1455550822
NM_005677.4(COLQ):c.1366T>C (p.Ter456Arg) rs188841362
NM_005677.4(COLQ):c.140G>T (p.Gly47Val) rs1411203931
NM_005677.4(COLQ):c.151T>C (p.Cys51Arg) rs1575483857
NM_005677.4(COLQ):c.154T>C (p.Cys52Arg) rs2062629371
NM_005677.4(COLQ):c.163A>G (p.Thr55Ala)
NM_005677.4(COLQ):c.168TCC[1] (p.Pro60del) rs753308023
NM_005677.4(COLQ):c.169C>T (p.Pro57Ser) rs2125139116
NM_005677.4(COLQ):c.191C>T (p.Pro64Leu) rs188737921
NM_005677.4(COLQ):c.209G>T (p.Gly70Val)
NM_005677.4(COLQ):c.235A>G (p.Met79Val)
NM_005677.4(COLQ):c.247A>G (p.Met83Val)
NM_005677.4(COLQ):c.247A>T (p.Met83Leu) rs1575482990
NM_005677.4(COLQ):c.252G>A (p.Leu84=) rs2062609459
NM_005677.4(COLQ):c.275C>T (p.Pro92Leu) rs757464366
NM_005677.4(COLQ):c.305G>A (p.Gly102Glu) rs2062606840
NM_005677.4(COLQ):c.311C>A (p.Pro104His)
NM_005677.4(COLQ):c.323G>A (p.Gly108Asp)
NM_005677.4(COLQ):c.329C>T (p.Pro110Leu)
NM_005677.4(COLQ):c.379C>G (p.Arg127Gly) rs143766249
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter) rs143766249
NM_005677.4(COLQ):c.37C>G (p.Leu13Val) rs770933718
NM_005677.4(COLQ):c.382C>G (p.Pro128Ala)
NM_005677.4(COLQ):c.389G>A (p.Arg130Lys) rs750806839
NM_005677.4(COLQ):c.395G>T (p.Gly132Val) rs1272787369
NM_005677.4(COLQ):c.404G>C (p.Gly135Ala) rs1443896327
NM_005677.4(COLQ):c.424A>G (p.Met142Val) rs2125119662
NM_005677.4(COLQ):c.440G>T (p.Gly147Val)
NM_005677.4(COLQ):c.452C>T (p.Pro151Leu) rs2062392436
NM_005677.4(COLQ):c.478G>A (p.Asp160Asn)
NM_005677.4(COLQ):c.502G>T (p.Gly168Trp)
NM_005677.4(COLQ):c.518T>C (p.Met173Thr)
NM_005677.4(COLQ):c.524C>T (p.Ser175Phe) rs1310878358
NM_005677.4(COLQ):c.555+1G>T
NM_005677.4(COLQ):c.555+5G>A rs765867687
NM_005677.4(COLQ):c.579C>G (p.Asp193Glu) rs2062339652
NM_005677.4(COLQ):c.58A>G (p.Ile20Val) rs909968550
NM_005677.4(COLQ):c.607C>T (p.Pro203Ser) rs2062334452
NM_005677.4(COLQ):c.619G>A (p.Gly207Arg)
NM_005677.4(COLQ):c.636+5_636+8del rs1471567316
NM_005677.4(COLQ):c.655G>A (p.Gly219Ser) rs2125109848
NM_005677.4(COLQ):c.661C>T (p.Pro221Ser) rs2062265717
NM_005677.4(COLQ):c.664G>C (p.Gly222Arg) rs1472096340
NM_005677.4(COLQ):c.674G>A (p.Gly225Glu) rs780362486
NM_005677.4(COLQ):c.683G>T (p.Gly228Val)
NM_005677.4(COLQ):c.686C>A (p.Pro229His) rs2062264716
NM_005677.4(COLQ):c.688A>G (p.Thr230Ala)
NM_005677.4(COLQ):c.701G>A (p.Gly234Glu)
NM_005677.4(COLQ):c.70C>A (p.Pro24Thr)
NM_005677.4(COLQ):c.717+4A>C rs201550931
NM_005677.4(COLQ):c.718-9C>T rs756975517
NM_005677.4(COLQ):c.779C>G (p.Pro260Arg)
NM_005677.4(COLQ):c.77T>C (p.Phe26Ser) rs2063138065
NM_005677.4(COLQ):c.79A>G (p.Ile27Val)
NM_005677.4(COLQ):c.823A>G (p.Ile275Val)
NM_005677.4(COLQ):c.833C>G (p.Pro278Arg) rs1341977323
NM_005677.4(COLQ):c.856G>A (p.Gly286Arg)
NM_005677.4(COLQ):c.859C>T (p.Pro287Ser) rs2125089134
NM_005677.4(COLQ):c.869G>A (p.Arg290Lys)
NM_005677.4(COLQ):c.871T>G (p.Cys291Gly)
NM_005677.4(COLQ):c.874C>T (p.Leu292Phe) rs2062053361
NM_005677.4(COLQ):c.889A>G (p.Met297Val)
NM_005677.4(COLQ):c.903C>A (p.Asn301Lys) rs1055184620
NM_005677.4(COLQ):c.905C>T (p.Pro302Leu)
NM_005677.4(COLQ):c.970A>C (p.Asn324His) rs201036462
NM_005677.4(COLQ):c.987G>C (p.Glu329Asp) rs758991725

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.