ClinVar Miner

List of variants reported as likely pathogenic for neuromuscular junction disease by Baylor Genetics

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 150
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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
NC_000017.11:g.4903159G>A 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.220-1G>A rs199470447 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_198576.4(AGRN):c.5023G>A (p.Gly1675Ser) rs764160563 0.00001
NM_000080.4(CHRNE):c.1032+1G>A rs1458613529
NM_000080.4(CHRNE):c.1032+2T>A
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.1219+1G>A
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.1326+1G>T
NM_000080.4(CHRNE):c.1327-1G>A
NM_000080.4(CHRNE):c.1327-2A>T
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter) rs918839874
NM_000080.4(CHRNE):c.1371del (p.Cys458fs) rs1597612665
NM_000080.4(CHRNE):c.1383_1393del (p.Ala462fs)
NM_000080.4(CHRNE):c.209_210del (p.Leu70fs)
NM_000080.4(CHRNE):c.217_227delinsTTGG (p.Ser73fs)
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.421C>A (p.Pro141Thr) rs483353045
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.501-16G>A rs879255563
NM_000080.4(CHRNE):c.510_511del (p.Tyr171fs)
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.803_813del
NM_000080.4(CHRNE):c.855CTT[1] (p.Phe286del)
NM_000080.4(CHRNE):c.866del (p.Leu289fs)
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_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.106+2_106+10del
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.188del (p.Pro63fs)
NM_005677.4(COLQ):c.19del (p.Pro6_Met7insTer)
NM_005677.4(COLQ):c.201del (p.Phe67fs)
NM_005677.4(COLQ):c.247_266del (p.Met83fs)
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.40C>T (p.Gln14Ter)
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.556G>T (p.Gly186Ter)
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.814+2T>C rs1002244829
NM_005677.4(COLQ):c.839_845dup (p.Phe284fs)
NM_005677.4(COLQ):c.955-1G>C
NM_005677.4(COLQ):c.95del (p.Pro32fs)
NM_005677.4(COLQ):c.992_998del (p.Leu331fs)
NM_020549.5(CHAT):c.1112-1G>C
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.1359_1363del (p.Cys453_Glu455delinsTer)
NM_020549.5(CHAT):c.1382+2_1382+3del
NM_020549.5(CHAT):c.1383-2A>G
NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter)
NM_020549.5(CHAT):c.1418_1419dup (p.Val474fs)
NM_020549.5(CHAT):c.1419del (p.Val474fs)
NM_020549.5(CHAT):c.1441dup (p.Arg481fs)
NM_020549.5(CHAT):c.1468_1470delinsC (p.Glu490fs)
NM_020549.5(CHAT):c.1511+1G>A
NM_020549.5(CHAT):c.1511+2T>A
NM_020549.5(CHAT):c.1687C>T (p.Gln563Ter)
NM_020549.5(CHAT):c.1715C>A (p.Ser572Ter) rs753652169
NM_020549.5(CHAT):c.1715C>G (p.Ser572Trp) 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.472C>T (p.Gln158Ter) rs1838635016
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.753-1G>C
NM_020549.5(CHAT):c.921del (p.Cys308fs)
NM_020549.5(CHAT):c.982del (p.Asp328fs) rs1590576560

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