ClinVar Miner

List of variants reported as likely pathogenic for congenital myasthenic syndrome by Baylor Genetics

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 121
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020549.5(CHAT):c.605T>G (p.Met202Arg) rs376808313 0.00045
NM_000080.4(CHRNE):c.-95G>A rs990457690 0.00003
NM_000080.4(CHRNE):c.1007_1025del (p.His336fs) rs1268475945 0.00003
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala) rs375215281 0.00003
NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys) rs368932156 0.00003
NM_020549.5(CHAT):c.1061C>T (p.Thr354Met) rs769234940 0.00003
NM_020549.5(CHAT):c.620G>A (p.Arg207His) rs764497513 0.00003
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu) rs770987150 0.00003
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro) rs28929768 0.00002
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) rs372635387 0.00002
NM_000080.4(CHRNE):c.-96C>T rs748144899 0.00001
NM_000080.4(CHRNE):c.1033-2A>T rs786204773 0.00001
NM_000080.4(CHRNE):c.1164del (p.Lys388fs) rs1222065184 0.00001
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu) rs121909514 0.00001
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp) rs374604570 0.00001
NM_005677.4(COLQ):c.1281C>T (p.Cys427=) rs185829251 0.00001
NM_005677.4(COLQ):c.954+1G>A rs757060689 0.00001
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys) rs121912822 0.00001
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys) rs121912816 0.00001
NM_020549.5(CHAT):c.1510C>T (p.Arg504Ter) rs371470622 0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His) rs121912819 0.00001
NM_020549.5(CHAT):c.1681C>T (p.Arg561Ter) rs1458796820 0.00001
NM_020549.5(CHAT):c.243G>A (p.Trp81Ter) rs1384661323 0.00001
NM_000080.4(CHRNE):c.1032+1G>A rs1458613529
NM_000080.4(CHRNE):c.1050_1065dup (p.Ser356fs)
NM_000080.4(CHRNE):c.1086_1111dup (p.Arg371fs)
NM_000080.4(CHRNE):c.1096_1103dup (p.Arg371fs)
NM_000080.4(CHRNE):c.1108del (p.Arg370fs) rs1969856640
NM_000080.4(CHRNE):c.1144G>T (p.Glu382Ter)
NM_000080.4(CHRNE):c.115dup (p.Ser39fs) rs977512223
NM_000080.4(CHRNE):c.1162_1163del (p.Lys388fs)
NM_000080.4(CHRNE):c.1203del (p.Gln402fs) rs1429181185
NM_000080.4(CHRNE):c.1220-1G>C rs373710822
NM_000080.4(CHRNE):c.1220-6_1227del rs1567635954
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs) rs769945146
NM_000080.4(CHRNE):c.1297_1314dup (p.Ser433_Glu438dup) rs1969834618
NM_000080.4(CHRNE):c.1309C>T (p.Gln437Ter)
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter) rs918839874
NM_000080.4(CHRNE):c.1371del (p.Cys458fs) rs1597612665
NM_000080.4(CHRNE):c.209_210del (p.Leu70fs)
NM_000080.4(CHRNE):c.219dup (p.Val74fs)
NM_000080.4(CHRNE):c.224G>A (p.Trp75Ter)
NM_000080.4(CHRNE):c.281del (p.Gly94fs)
NM_000080.4(CHRNE):c.342dup (p.Asn115fs)
NM_000080.4(CHRNE):c.345-2A>G
NM_000080.4(CHRNE):c.346dup (p.Ile116fs)
NM_000080.4(CHRNE):c.432C>A (p.Tyr144Ter)
NM_000080.4(CHRNE):c.452_454del (p.Glu151del) rs2151098283
NM_000080.4(CHRNE):c.47-1G>A
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000080.4(CHRNE):c.501-10_504dup rs768552387
NM_000080.4(CHRNE):c.501-16G>A rs879255563
NM_000080.4(CHRNE):c.529_531del (p.Glu177del) rs779816027
NM_000080.4(CHRNE):c.530_531insCCAC (p.Glu177fs)
NM_000080.4(CHRNE):c.535A>C (p.Thr179Pro)
NM_000080.4(CHRNE):c.605del (p.Asn202fs)
NM_000080.4(CHRNE):c.693del (p.Tyr232fs)
NM_000080.4(CHRNE):c.696C>A (p.Tyr232Ter)
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe) rs28999110
NM_000080.4(CHRNE):c.726del (p.Tyr243fs)
NM_000080.4(CHRNE):c.72del (p.Glu24fs)
NM_000080.4(CHRNE):c.786C>A (p.Tyr262Ter)
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu) rs759226183
NM_000080.4(CHRNE):c.855CTT[1] (p.Phe286del)
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)
NM_000080.4(CHRNE):c.880dup (p.Ile294fs)
NM_000080.4(CHRNE):c.891_892insCTCTGGGATT (p.Ser298fs)
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg) rs370019023
NM_000080.4(CHRNE):c.916A>T (p.Arg306Trp)
NM_000080.4(CHRNE):c.922del (p.Ile309fs)
NM_000080.4(CHRNE):c.929del (p.Phe310fs)
NM_000080.4(CHRNE):c.934_936del (p.Met312del) rs1555546465
NM_000080.4(CHRNE):c.966C>A (p.Cys322Ter) rs56377005
NM_000080.4(CHRNE):c.984_986delinsT (p.Ser329fs)
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_001145536.2(C17orf107):c.*368_*378del
NM_001171613.2(PREPL):c.1553G>A (p.Trp518Ter) rs1673169930
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_005055.5(RAPSN):c.193-2A>C rs1595902947
NM_005677.4(COLQ):c.1054_1063del (p.Leu352fs)
NM_005677.4(COLQ):c.1129del (p.Asp377fs) rs1559511788
NM_005677.4(COLQ):c.1225dup (p.His409fs) rs1559510978
NM_005677.4(COLQ):c.124C>T (p.Gln42Ter)
NM_005677.4(COLQ):c.1298G>A (p.Gly433Glu) rs1575460231
NM_005677.4(COLQ):c.1331G>A (p.Cys444Tyr)
NM_005677.4(COLQ):c.175C>T (p.Pro59Ser)
NM_005677.4(COLQ):c.19del (p.Pro6_Met7insTer)
NM_005677.4(COLQ):c.201del (p.Phe67fs)
NM_005677.4(COLQ):c.268C>T (p.Gln90Ter)
NM_005677.4(COLQ):c.319C>T (p.Gln107Ter)
NM_005677.4(COLQ):c.319dup (p.Gln107fs)
NM_005677.4(COLQ):c.322-1G>C
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter) rs143766249
NM_005677.4(COLQ):c.466-1G>A
NM_005677.4(COLQ):c.528+1G>A
NM_005677.4(COLQ):c.54_57del (p.Ile20fs) rs771879602
NM_005677.4(COLQ):c.555+1G>T
NM_005677.4(COLQ):c.589A>T (p.Lys197Ter)
NM_005677.4(COLQ):c.718-1276C>T rs2062220124
NM_005677.4(COLQ):c.814+1G>A
NM_005677.4(COLQ):c.839_845dup (p.Phe284fs)
NM_005677.4(COLQ):c.95del (p.Pro32fs)
NM_005677.4(COLQ):c.992_998del (p.Leu331fs)
NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)
NM_020549.5(CHAT):c.1249G>A (p.Gly417Arg)
NM_020549.5(CHAT):c.1282-2A>T
NM_020549.5(CHAT):c.1294C>T (p.Arg432Ter)
NM_020549.5(CHAT):c.1382+2_1382+3del
NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter)
NM_020549.5(CHAT):c.1418_1419dup (p.Val474fs)
NM_020549.5(CHAT):c.1441dup (p.Arg481fs)
NM_020549.5(CHAT):c.1468_1470delinsC (p.Glu490fs)
NM_020549.5(CHAT):c.1715C>A (p.Ser572Ter) rs753652169
NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs)
NM_020549.5(CHAT):c.2046C>G (p.Tyr682Ter)
NM_020549.5(CHAT):c.413del (p.Pro138fs)
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
NM_020549.5(CHAT):c.593G>A (p.Trp198Ter)
NM_020549.5(CHAT):c.619C>G (p.Arg207Gly) rs760936252
NM_020549.5(CHAT):c.698+1G>T
NM_020549.5(CHAT):c.982del (p.Asp328fs) rs1590576560

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.