ClinVar Miner

List of variants reported as uncertain significance for congenital myasthenic syndrome 5 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_005677.4(COLQ):c.1074+4C>T rs201227079 0.00041
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.737G>C (p.Gly246Ala) rs146687198 0.00023
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.1087T>C (p.Tyr363His) rs756508281 0.00013
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.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.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.944G>A (p.Arg315Gln) rs778740405 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.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.1354C>T (p.Arg452Cys) rs368932156 0.00003
NM_005677.4(COLQ):c.674G>C (p.Gly225Ala) rs780362486 0.00003
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.954+6G>A rs749018849 0.00002
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.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
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.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.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.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.1186G>A (p.Asp396Asn) rs748582765
NM_005677.4(COLQ):c.1195C>G (p.Arg399Gly) rs779594053
NM_005677.4(COLQ):c.120G>A (p.Leu40=)
NM_005677.4(COLQ):c.1214G>C (p.Cys405Ser)
NM_005677.4(COLQ):c.1232A>G (p.His411Arg)
NM_005677.4(COLQ):c.1313T>C (p.Leu438Pro)
NM_005677.4(COLQ):c.1318T>C (p.Cys440Arg)
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>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.379C>G (p.Arg127Gly) 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.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+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.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.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.77T>C (p.Phe26Ser) rs2063138065
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.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

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