ClinVar Miner

List of variants studied for congenital myasthenic syndrome by Baylor Genetics

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 265
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.154C>T (p.Arg52Trp) rs201379704 0.00258
NM_003055.3(SLC18A3):c.85C>T (p.Arg29Trp) rs8187734 0.00207
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro) rs8178989 0.00086
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
NM_000334.4(SCN4A):c.8G>C (p.Arg3Thr) rs764134362 0.00046
NM_020549.5(CHAT):c.605T>G (p.Met202Arg) rs376808313 0.00045
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr) rs146931108 0.00042
NM_005677.4(COLQ):c.391A>G (p.Lys131Glu) rs142980906 0.00034
NM_005592.4(MUSK):c.486G>C (p.Arg162Ser) rs200750233 0.00032
NM_173660.5(DOK7):c.1425G>T (p.Trp475Cys) rs777626370 0.00029
NM_198576.4(AGRN):c.172G>A (p.Asp58Asn) rs750933418 0.00029
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083 0.00018
NM_006901.4(MYO9A):c.5110C>T (p.Pro1704Ser) rs141313736 0.00017
NM_177402.5(SYT2):c.199G>A (p.Ala67Thr) rs147177966 0.00017
NM_198576.4(AGRN):c.3764C>T (p.Ala1255Val) rs137965991 0.00016
NM_020549.5(CHAT):c.1511G>A (p.Arg504Gln) rs200335347 0.00015
NM_000751.3(CHRND):c.821-2A>C rs762875734 0.00014
NM_020549.5(CHAT):c.406G>A (p.Val136Met) rs201479289 0.00011
NM_173660.5(DOK7):c.1373C>A (p.Ala458Asp) rs778440478 0.00008
NM_198576.4(AGRN):c.3034G>A (p.Ala1012Thr) rs144781935 0.00008
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn) rs199656266 0.00006
NM_198576.4(AGRN):c.4561C>T (p.Arg1521Cys) rs550316749 0.00006
NM_198576.4(AGRN):c.5056G>A (p.Gly1686Ser) rs142783040 0.00006
NM_198576.4(AGRN):c.5674C>T (p.His1892Tyr) rs201518881 0.00006
NM_005677.4(COLQ):c.1289A>C (p.Tyr430Ser) rs121908923 0.00005
NM_173660.5(DOK7):c.829G>A (p.Ala277Thr) rs759117081 0.00005
NM_005592.4(MUSK):c.79+2T>G rs200783529 0.00004
NM_006901.4(MYO9A):c.5350C>T (p.Pro1784Ser) rs111274636 0.00004
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr) rs372760913 0.00004
NM_021815.5(SLC5A7):c.1145G>A (p.Arg382Gln) rs757121838 0.00004
NM_198576.4(AGRN):c.2567G>A (p.Arg856Gln) rs576278814 0.00004
NM_198576.4(AGRN):c.3905C>T (p.Thr1302Met) rs745898927 0.00004
NM_000080.4(CHRNE):c.-95G>A rs990457690 0.00003
NM_000080.4(CHRNE):c.1007_1025del (p.His336fs) rs1268475945 0.00003
NM_000080.4(CHRNE):c.971del (p.Ile324fs) rs879255562 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_198576.4(AGRN):c.3119C>T (p.Thr1040Met) rs751987634 0.00003
NM_198576.4(AGRN):c.5839G>A (p.Val1947Ile) rs745398279 0.00003
NM_198576.4(AGRN):c.749A>C (p.Asn250Thr) rs753435616 0.00003
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs) rs776927709 0.00002
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.803-2A>G rs1320610655 0.00002
NM_000751.3(CHRND):c.127C>T (p.Arg43Trp) rs55868108 0.00002
NM_005592.4(MUSK):c.2572C>T (p.Arg858Cys) rs200450921 0.00002
NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp) rs139574075 0.00002
NM_006901.4(MYO9A):c.3071T>C (p.Ile1024Thr) rs773768704 0.00002
NM_000080.4(CHRNE):c.-96C>T rs748144899 0.00001
NM_000080.4(CHRNE):c.1033-1G>C rs755303686 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.1220-1G>A rs373710822 0.00001
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu) rs121909512 0.00001
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu) rs121909514 0.00001
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs) rs758687208 0.00001
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557 0.00001
NM_000751.3(CHRND):c.136G>A (p.Ala46Thr) rs1085307559 0.00001
NM_001368882.1(COL13A1):c.1610A>G (p.Lys537Arg) rs1015279176 0.00001
NM_001368882.1(COL13A1):c.750+18G>T rs757550207 0.00001
NM_003055.3(SLC18A3):c.151A>G (p.Met51Val) rs1016793644 0.00001
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp) rs374604570 0.00001
NM_005677.4(COLQ):c.1195+1G>A rs755782087 0.00001
NM_005677.4(COLQ):c.1281C>T (p.Cys427=) rs185829251 0.00001
NM_005677.4(COLQ):c.1346del (p.Thr449fs) rs757053860 0.00001
NM_005677.4(COLQ):c.219+1G>C rs149020371 0.00001
NM_005677.4(COLQ):c.679C>T (p.Arg227Ter) rs770045897 0.00001
NM_005677.4(COLQ):c.943C>T (p.Arg315Ter) rs121908924 0.00001
NM_005677.4(COLQ):c.954+1G>A rs757060689 0.00001
NM_006901.4(MYO9A):c.1573G>A (p.Glu525Lys) rs113371332 0.00001
NM_006901.4(MYO9A):c.5807C>T (p.Thr1936Met) rs779857942 0.00001
NM_020549.5(CHAT):c.1169T>A (p.Leu390Gln) rs1049061686 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.1642C>T (p.Arg548Ter) rs369251527 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_020549.5(CHAT):c.631C>G (p.Pro211Ala) rs121912815 0.00001
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg) rs758131044 0.00001
NM_000080.4(CHRNE):c.1002_1008dup (p.Ala337fs)
NM_000080.4(CHRNE):c.1032+1G>A rs1458613529
NM_000080.4(CHRNE):c.1050_1065dup (p.Ser356fs)
NM_000080.4(CHRNE):c.1062_1081dup (p.Glu361fs) rs2151094729
NM_000080.4(CHRNE):c.1071GCC[2] (p.Pro360del) rs752226476
NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs) rs932032926
NM_000080.4(CHRNE):c.1086_1111dup (p.Arg371fs)
NM_000080.4(CHRNE):c.1090del (p.Arg364fs)
NM_000080.4(CHRNE):c.1090dup (p.Arg364fs) rs1156634884
NM_000080.4(CHRNE):c.1093del (p.Ala365fs) rs886043239
NM_000080.4(CHRNE):c.1096_1103dup (p.Arg371fs)
NM_000080.4(CHRNE):c.1108del (p.Arg370fs) rs1969856640
NM_000080.4(CHRNE):c.1116_1128del (p.Ser373fs)
NM_000080.4(CHRNE):c.1144G>T (p.Glu382Ter)
NM_000080.4(CHRNE):c.1158dup (p.Lys387fs) rs2151094540
NM_000080.4(CHRNE):c.115dup (p.Ser39fs) rs977512223
NM_000080.4(CHRNE):c.1161_1162insT (p.Lys388Ter) rs886037628
NM_000080.4(CHRNE):c.1162_1163del (p.Lys388fs)
NM_000080.4(CHRNE):c.1203del (p.Gln402fs) rs1429181185
NM_000080.4(CHRNE):c.1204C>T (p.Gln402Ter)
NM_000080.4(CHRNE):c.1216_1219+19del rs760623071
NM_000080.4(CHRNE):c.1220-1G>C rs373710822
NM_000080.4(CHRNE):c.1220-2A>G rs1309292778
NM_000080.4(CHRNE):c.1220-6_1227del rs1567635954
NM_000080.4(CHRNE):c.1220-8_1227dup rs2151094080
NM_000080.4(CHRNE):c.1222G>A (p.Ala408Thr) rs1202290550
NM_000080.4(CHRNE):c.1248_1266dup (p.Cys423fs)
NM_000080.4(CHRNE):c.1251_1266dup (p.Cys423fs) rs748694848
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs) rs769945146
NM_000080.4(CHRNE):c.1291G>C (p.Ala431Pro) rs121909517
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.130dup (p.Glu44fs) rs762368691
NM_000080.4(CHRNE):c.1319_1326+15del rs1208462125
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter) rs918839874
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) rs773526895
NM_000080.4(CHRNE):c.1364ACA[1] (p.Asn456del) rs748289906
NM_000080.4(CHRNE):c.1371del (p.Cys458fs) rs1597612665
NM_000080.4(CHRNE):c.1429del (p.Ala477fs) rs1396286715
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.295C>T (p.Arg99Ter) rs1278514080
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.355C>T (p.Gln119Ter)
NM_000080.4(CHRNE):c.372C>G (p.Tyr124Ter) rs894382905
NM_000080.4(CHRNE):c.432C>A (p.Tyr144Ter)
NM_000080.4(CHRNE):c.452_454del (p.Glu151del) rs2151098283
NM_000080.4(CHRNE):c.46+2del
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.614_620del (p.Trp205fs) rs753828284
NM_000080.4(CHRNE):c.617_635del (p.Ala206fs) rs1969972830
NM_000080.4(CHRNE):c.684_687del (p.Asp229fs) rs1597619440
NM_000080.4(CHRNE):c.693del (p.Tyr232fs)
NM_000080.4(CHRNE):c.696C>A (p.Tyr232Ter)
NM_000080.4(CHRNE):c.712C>T (p.Arg238Trp) rs1567638676
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.764C>T (p.Ser255Leu) rs1555546765
NM_000080.4(CHRNE):c.786C>A (p.Tyr262Ter)
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu) rs759226183
NM_000080.4(CHRNE):c.794del (p.Pro265fs) rs756675414
NM_000080.4(CHRNE):c.855CTT[1] (p.Phe286del)
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)
NM_000080.4(CHRNE):c.876del (p.Ile294fs)
NM_000080.4(CHRNE):c.878_887dup (p.Thr297fs)
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.917G>T (p.Arg306Met) rs2151096983
NM_000080.4(CHRNE):c.918-1G>A rs1407243713
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.988C>T (p.Gln330Ter)
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln) rs760022829
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.685del (p.Thr229fs) rs1909597270
NM_000747.3(CHRNB1):c.1404C>A (p.Asp468Glu)
NM_000751.3(CHRND):c.218T>C (p.Leu73Pro) rs1691518594
NM_001145536.2(C17orf107):c.*368_*378del
NM_001171613.2(PREPL):c.137AAG[1] (p.Glu47del) rs1675572705
NM_001171613.2(PREPL):c.1553G>A (p.Trp518Ter) rs1673169930
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001244710.2(GFPT1):c.902C>G (p.Ala301Gly) rs372840289
NM_001368882.1(COL13A1):c.567C>A (p.Asp189Glu) rs202115626
NM_003055.3(SLC18A3):c.1093G>C (p.Ala365Pro) rs1434365893
NM_003055.3(SLC18A3):c.88C>T (p.Arg30Trp) rs8187735
NM_005055.5(RAPSN):c.193-2A>C rs1595902947
NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr) rs142635726
NM_005592.4(MUSK):c.2291T>C (p.Ile764Thr) rs1554757211
NM_005677.4(COLQ):c.1054_1063del (p.Leu352fs)
NM_005677.4(COLQ):c.1082del (p.Pro361fs) rs769982050
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.377del (p.Gly126fs) rs759874172
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter) rs143766249
NM_005677.4(COLQ):c.393+1G>A rs1085307792
NM_005677.4(COLQ):c.452C>T (p.Pro151Leu) rs2062392436
NM_005677.4(COLQ):c.466-1G>A
NM_005677.4(COLQ):c.506C>G (p.Ser169Ter) rs104893734
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.631C>T (p.Gln211Ter)
NM_005677.4(COLQ):c.706C>T (p.Arg236Ter)
NM_005677.4(COLQ):c.718-1276C>T rs2062220124
NM_005677.4(COLQ):c.788dup (p.Pro265fs) rs759911990
NM_005677.4(COLQ):c.814+1G>A
NM_005677.4(COLQ):c.833C>G (p.Pro278Arg) rs1341977323
NM_005677.4(COLQ):c.839_845dup (p.Phe284fs)
NM_005677.4(COLQ):c.856G>A (p.Gly286Arg)
NM_005677.4(COLQ):c.893del (p.Asn298fs) rs2125089093
NM_005677.4(COLQ):c.955-2A>C
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.156_157insA (p.Gly53fs)
NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter) rs757303526
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.286+1G>T
NM_020549.5(CHAT):c.287-2A>G
NM_020549.5(CHAT):c.349del (p.Arg117fs) rs1198717023
NM_020549.5(CHAT):c.413del (p.Pro138fs)
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
NM_020549.5(CHAT):c.463T>A (p.Ser155Thr) rs1838634644
NM_020549.5(CHAT):c.593G>A (p.Trp198Ter)
NM_020549.5(CHAT):c.59_60del (p.Glu20fs) rs531450737
NM_020549.5(CHAT):c.619C>G (p.Arg207Gly) rs760936252
NM_020549.5(CHAT):c.698+1G>T
NM_020549.5(CHAT):c.6del (p.Gly2_Leu3insTer) rs1838384543
NM_020549.5(CHAT):c.982del (p.Asp328fs) rs1590576560
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1138dup (p.Ala380fs) rs761899995
NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs) rs778172294
NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs) rs797045040
NM_173660.5(DOK7):c.513C>T (p.Gly171=) rs775583136
NM_173660.5(DOK7):c.752C>A (p.Ala251Glu) rs376251309
NM_198576.4(AGRN):c.1702G>A (p.Gly568Ser) rs1645008527
NM_198576.4(AGRN):c.1939G>A (p.Glu647Lys) rs1645019779
NM_198576.4(AGRN):c.2393A>T (p.His798Leu) rs1645061478
NM_198576.4(AGRN):c.5801T>C (p.Leu1934Pro)
NM_198576.4(AGRN):c.802_803delinsAT (p.Ala268Ile) rs1644926945

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