ClinVar Miner

List of variants reported as likely pathogenic for congenital myasthenic syndrome

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 389
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HGVS dbSNP gnomAD frequency
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_020549.5(CHAT):c.605T>G (p.Met202Arg) rs376808313 0.00045
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys) rs201322234 0.00030
NM_020549.5(CHAT):c.406G>A (p.Val136Met) rs201479289 0.00011
NM_001171613.2(PREPL):c.1753+1G>T rs148092524 0.00009
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_001382.4(DPAGT1):c.1139C>T (p.Thr380Ile) rs776720609 0.00004
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr) rs372760913 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_001171613.2(PREPL):c.888+1G>A rs758019788 0.00003
NM_001368882.1(COL13A1):c.1285-1G>C rs763197055 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.1511_1513del (p.Pro504_Ter505delinsArg) rs762345055 0.00003
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu) rs770987150 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_001244710.2(GFPT1):c.209A>G (p.Asp70Gly) rs530830788 0.00002
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005677.4(COLQ):c.555+1G>A rs769276577 0.00002
NM_020549.5(CHAT):c.1492T>C (p.Ser498Pro) rs1409506586 0.00002
NM_173660.5(DOK7):c.773-2_773-1del rs770163440 0.00002
NM_198576.4(AGRN):c.5012G>A (p.Arg1671Gln) rs769667244 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.1220-1G>A rs373710822 0.00001
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu) rs121909514 0.00001
NM_000080.4(CHRNE):c.794C>G (p.Pro265Arg) rs759226183 0.00001
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) rs879253789 0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148 0.00001
NM_001171613.2(PREPL):c.-49+1734C>T rs374594354 0.00001
NM_001171613.2(PREPL):c.1262+1G>A rs1172015222 0.00001
NM_001171613.2(PREPL):c.1263-1G>C rs1316112168 0.00001
NM_001244710.2(GFPT1):c.332G>A (p.Arg111His) rs189717232 0.00001
NM_001368882.1(COL13A1):c.709C>T (p.Arg237Ter) rs769673346 0.00001
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys) rs746187785 0.00001
NM_001382.4(DPAGT1):c.643+2T>C rs774754436 0.00001
NM_002334.4(LRP4):c.1184-1G>A rs1941502709 0.00001
NM_005055.5(RAPSN):c.1070dup (p.Glu358fs) rs1475015182 0.00001
NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys) rs767507908 0.00001
NM_005055.5(RAPSN):c.531+1G>T rs1421354085 0.00001
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp) rs374604570 0.00001
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser) rs551423795 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.1516G>T (p.Val506Leu) rs121912817 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.841C>T (p.Arg281Trp) rs747108035 0.00001
NM_173660.5(DOK7):c.436C>T (p.Pro146Ser) rs1727094027 0.00001
NM_198576.4(AGRN):c.3250+1G>A rs759853904 0.00001
GRCh37/hg19 11p11.2(chr11:47459526-47460482)
NC_000002.12:g.(?_69363535)_(69363680_?)del
NC_000004.11:g.(3478270_3487265)_(3487386_3491403)del
NC_000009.11:g.(?_113431213)_(113441760_?)del
NC_000009.11:g.(?_113457663)_(113524508_?)dup
NC_000009.11:g.(?_113496521)_(113524498_?)dup
NM_000079.4(CHRNA1):c.380_381del (p.Lys127fs) rs1574007436
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser) rs137852801
NM_000079.4(CHRNA1):c.518dup (p.Ser174fs) rs1064793397
NM_000080.4(CHRNE):c.1016_1032+2dup
NM_000080.4(CHRNE):c.1032+1G>A rs1458613529
NM_000080.4(CHRNE):c.1033-2del
NM_000080.4(CHRNE):c.1050_1065dup (p.Ser356fs)
NM_000080.4(CHRNE):c.1052C>G (p.Pro351Arg)
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.1216_1219+19del rs760623071
NM_000080.4(CHRNE):c.1220-1G>C rs373710822
NM_000080.4(CHRNE):c.1220-2A>C
NM_000080.4(CHRNE):c.1220-2A>G rs1309292778
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>A rs1430654625
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter) rs918839874
NM_000080.4(CHRNE):c.1371del (p.Cys458fs) rs1597612665
NM_000080.4(CHRNE):c.1388T>G (p.Leu463Arg)
NM_000080.4(CHRNE):c.1429del (p.Ala477fs) rs1396286715
NM_000080.4(CHRNE):c.1457C>T (p.Pro486Leu) rs1969817843
NM_000080.4(CHRNE):c.189+1G>A
NM_000080.4(CHRNE):c.190-2A>G
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.235-2A>G rs1597622118
NM_000080.4(CHRNE):c.281del (p.Gly94fs)
NM_000080.4(CHRNE):c.342dup (p.Asn115fs)
NM_000080.4(CHRNE):c.345-1G>A
NM_000080.4(CHRNE):c.345-2A>G
NM_000080.4(CHRNE):c.345-2A>T rs2151098412
NM_000080.4(CHRNE):c.346dup (p.Ile116fs)
NM_000080.4(CHRNE):c.3G>A (p.Met1Ile) rs1970039895
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr) rs483353045
NM_000080.4(CHRNE):c.421C>G (p.Pro141Ala) rs483353045
NM_000080.4(CHRNE):c.432C>A (p.Tyr144Ter)
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser) rs1597621396
NM_000080.4(CHRNE):c.443G>A (p.Cys148Tyr)
NM_000080.4(CHRNE):c.452_454del (p.Glu151del) rs2151098283
NM_000080.4(CHRNE):c.46+1G>T rs746199600
NM_000080.4(CHRNE):c.47-1G>A
NM_000080.4(CHRNE):c.488C>G (p.Ser163Trp) rs121909516
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000080.4(CHRNE):c.497T>G (p.Phe166Cys)
NM_000080.4(CHRNE):c.500+2T>C
NM_000080.4(CHRNE):c.501-10_504dup rs768552387
NM_000080.4(CHRNE):c.501-16G>A rs879255563
NM_000080.4(CHRNE):c.501-1G>C
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.583G>T (p.Asp195Tyr) rs774425374
NM_000080.4(CHRNE):c.601+1G>T
NM_000080.4(CHRNE):c.602-1G>A
NM_000080.4(CHRNE):c.604A>T (p.Asn202Tyr)
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.713G>A (p.Arg238Gln) rs2151097307
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>G (p.Ser255Trp)
NM_000080.4(CHRNE):c.786C>A (p.Tyr262Ter)
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu) rs759226183
NM_000080.4(CHRNE):c.803-1G>T
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter) rs773929089
NM_000080.4(CHRNE):c.853G>A (p.Val285Ile)
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.904C>G (p.Pro302Ala) rs979787967
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg) rs370019023
NM_000080.4(CHRNE):c.905C>T (p.Pro302Leu) 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_000080.4(CHRNE):c.992G>A (p.Arg331Gln) rs760022829
NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys) rs1181083611
NM_000334.4(SCN4A):c.3733G>A (p.Gly1245Ser)
NM_000334.4(SCN4A):c.435C>A (p.Cys145Ter)
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000747.3(CHRNB1):c.199-2A>C
NM_000747.3(CHRNB1):c.353+1del
NM_000747.3(CHRNB1):c.354-1G>A rs1597749210
NM_000747.3(CHRNB1):c.58+1G>A
NM_000747.3(CHRNB1):c.611-1G>C
NM_000747.3(CHRNB1):c.687_688insT (p.Gly230fs) rs1908762801
NM_000747.3(CHRNB1):c.757_820+135del
NM_000747.3(CHRNB1):c.854T>C (p.Leu285Pro) rs2150842362
NM_000751.3(CHRND):c.1107del (p.Ser370fs)
NM_000751.3(CHRND):c.248G>A (p.Trp83Ter) rs2106208285
NM_000751.3(CHRND):c.52+1G>A rs2106205676
NM_000751.3(CHRND):c.982_983del (p.Val328fs)
NM_001145536.2(C17orf107):c.*1010C>G rs774425374
NM_001145536.2(C17orf107):c.*368_*378del
NM_001171613.2(PREPL):c.-48-2A>G rs753545038
NM_001171613.2(PREPL):c.-48-2A>T
NM_001171613.2(PREPL):c.1086+2T>C
NM_001171613.2(PREPL):c.1366C>T (p.Gln456Ter) rs1673549822
NM_001171613.2(PREPL):c.1412_1479+41del
NM_001171613.2(PREPL):c.1553G>A (p.Trp518Ter) rs1673169930
NM_001171613.2(PREPL):c.1753+2T>C
NM_001171613.2(PREPL):c.1827G>T (p.Lys609Asn)
NM_001171613.2(PREPL):c.350-1G>T
NM_001171613.2(PREPL):c.703-2A>G rs2103914962
NM_001171613.2(PREPL):c.981dup (p.Tyr328fs) rs1553354962
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001244710.2(GFPT1):c.1105+1G>A rs1553389102
NM_001244710.2(GFPT1):c.1106-1G>T rs1670970306
NM_001244710.2(GFPT1):c.1526T>C (p.Met509Thr)
NM_001244710.2(GFPT1):c.211G>T (p.Glu71Ter)
NM_001244710.2(GFPT1):c.398A>G (p.Lys133Arg)
NM_001244710.2(GFPT1):c.408+5G>A rs1558762013
NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln) rs775399768
NM_001244710.2(GFPT1):c.739+1G>A
NM_001368882.1(COL13A1):c.2022+1G>C
NM_001368882.1(COL13A1):c.457G>T (p.Glu153Ter)
NM_001368882.1(COL13A1):c.513del (p.Gly172fs) rs1564932829
NM_001368882.1(COL13A1):c.685-1164T>C rs1554943789
NM_001368882.1(COL13A1):c.803del (p.Pro268fs)
NM_001382.4(DPAGT1):c.1005+1G>A
NM_001382.4(DPAGT1):c.1097T>C (p.Leu366Ser) rs2134898234
NM_001382.4(DPAGT1):c.187G>A (p.Gly63Ser)
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile) rs387907243
NM_001382.4(DPAGT1):c.457A>T (p.Lys153Ter) rs1946485389
NM_001382.4(DPAGT1):c.644-1G>T rs2134903748
NM_001382.4(DPAGT1):c.742G>A (p.Val248Met)
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe) rs397515328
NM_002334.4(LRP4):c.1184-2A>G
NM_002334.4(LRP4):c.1560G>A (p.Trp520Ter) rs1479002757
NM_002334.4(LRP4):c.2507-1G>A
NM_002334.4(LRP4):c.3699+1G>A
NM_002334.4(LRP4):c.409G>A (p.Asp137Asn) rs267607222
NM_002334.4(LRP4):c.547+1G>A rs762425885
NM_002334.4(LRP4):c.898G>A (p.Asp300Asn)
NM_003055.3(SLC18A3):c.1192G>C (p.Asp398His) rs1057517666
NM_005055.4(RAPSN):c.-199C>G rs886037842
NM_005055.4(RAPSN):c.[524A>G];[829A>G]
NM_005055.5(RAPSN):c.133G>T (p.Val45Leu)
NM_005055.5(RAPSN):c.193-2A>C rs1595902947
NM_005055.5(RAPSN):c.193-5_201del
NM_005055.5(RAPSN):c.272G>A (p.Arg91His) rs375218091
NM_005055.5(RAPSN):c.272G>C (p.Arg91Pro) rs375218091
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter) rs1479498379
NM_005055.5(RAPSN):c.691-1G>A
NM_005055.5(RAPSN):c.872G>C (p.Gly291Ala) rs374604570
NM_005055.5(RAPSN):c.911_912+1dup rs2153308410
NM_005055.5(RAPSN):c.913-1G>C
NM_005055.5(RAPSN):c.966+1_966+2delinsAG rs2153308170
NM_005245.4(FAT1):c.2600_2601del (p.Thr867fs) rs1579484850
NM_005592.4(MUSK):c.1043A>C (p.Gln348Pro)
NM_005592.4(MUSK):c.114T>A (p.Asp38Glu)
NM_005592.4(MUSK):c.1184+2T>C
NM_005592.4(MUSK):c.1185-2A>G
NM_005592.4(MUSK):c.1360+1G>A
NM_005592.4(MUSK):c.1586+1G>A
NM_005592.4(MUSK):c.1778+1G>T rs2132026515
NM_005592.4(MUSK):c.206+2T>C
NM_005592.4(MUSK):c.207-1G>A
NM_005592.4(MUSK):c.2360C>T (p.Ala787Val)
NM_005592.4(MUSK):c.2382G>C (p.Glu794Asp) rs756877019
NM_005592.4(MUSK):c.2461C>T (p.Leu821Phe) rs2078085499
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu) rs375737188
NM_005592.4(MUSK):c.486+1G>C rs1204788520
NM_005592.4(MUSK):c.754-1G>T
NM_005592.4(MUSK):c.754-2A>G rs1587986079
NM_005592.4(MUSK):c.790_791delinsTGC (p.Arg264fs)
NM_005592.4(MUSK):c.913+2T>C
NM_005592.4(MUSK):c.920+1G>A
NM_005677.4(COLQ):c.1026C>A (p.Asp342Glu)
NM_005677.4(COLQ):c.1026C>G (p.Asp342Glu) rs758554049
NM_005677.4(COLQ):c.1054_1063del (p.Leu352fs)
NM_005677.4(COLQ):c.106+2_106+10del
NM_005677.4(COLQ):c.107-1G>A rs1269227357
NM_005677.4(COLQ):c.1129del (p.Asp377fs) rs1559511788
NM_005677.4(COLQ):c.1162G>A (p.Asp388Asn) rs1008156537
NM_005677.4(COLQ):c.1217G>C (p.Gly406Ala) rs1306593300
NM_005677.4(COLQ):c.1225dup (p.His409fs) rs1559510978
NM_005677.4(COLQ):c.124C>T (p.Gln42Ter)
NM_005677.4(COLQ):c.1250G>A (p.Cys417Tyr)
NM_005677.4(COLQ):c.1298G>A (p.Gly433Glu) rs1575460231
NM_005677.4(COLQ):c.1331G>A (p.Cys444Tyr)
NM_005677.4(COLQ):c.1340A>T (p.Asp447Val)
NM_005677.4(COLQ):c.175C>T (p.Pro59Ser)
NM_005677.4(COLQ):c.176C>A (p.Pro59Gln)
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.366+1G>C rs2125123160
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter) rs143766249
NM_005677.4(COLQ):c.393+1G>A rs1085307792
NM_005677.4(COLQ):c.444G>A (p.Trp148Ter) rs1369980189
NM_005677.4(COLQ):c.466-1G>A
NM_005677.4(COLQ):c.528+1G>A
NM_005677.4(COLQ):c.529-2A>G rs755236236
NM_005677.4(COLQ):c.54_57del (p.Ile20fs) rs771879602
NM_005677.4(COLQ):c.555+1G>T
NM_005677.4(COLQ):c.57dup (p.Ile20fs) rs777102590
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.870_871del (p.Cys291fs)
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_005984.5(SLC25A1):c.121T>C (p.Cys41Arg)
NM_006901.4(MYO9A):c.3001-2A>G rs2143524373
NM_014231.5(VAMP1):c.340del (p.Ile114fs) rs746220436
NM_020549.5(CHAT):c.1060A>T (p.Thr354Ser) rs2132735749
NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)
NM_020549.5(CHAT):c.1249G>A (p.Gly417Arg)
NM_020549.5(CHAT):c.1254del (p.Asn419fs) rs1272947184
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.1383-1G>A rs2132811750
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.1444A>G (p.Arg482Gly) rs121912818
NM_020549.5(CHAT):c.1468_1470delinsC (p.Glu490fs)
NM_020549.5(CHAT):c.1663G>A (p.Glu555Lys) rs757303526
NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter) rs757303526
NM_020549.5(CHAT):c.1678C>T (p.Arg560Cys)
NM_020549.5(CHAT):c.1715C>A (p.Ser572Ter) rs753652169
NM_020549.5(CHAT):c.1721C>T (p.Thr574Ile) rs1839995781
NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs)
NM_020549.5(CHAT):c.1896_1918del (p.Ala633fs) rs2132852540
NM_020549.5(CHAT):c.1916C>T (p.Pro639Leu)
NM_020549.5(CHAT):c.1977+1_1977+9del rs1207292931
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.635T>A (p.Val212Asp) rs1554802792
NM_020549.5(CHAT):c.698+1G>A
NM_020549.5(CHAT):c.698+1G>T
NM_020549.5(CHAT):c.698+2T>C
NM_020549.5(CHAT):c.753-2A>T
NM_020549.5(CHAT):c.982del (p.Asp328fs) rs1590576560
NM_021815.5(SLC5A7):c.1207T>C (p.Tyr403His)
NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer) rs886039767
NM_021815.5(SLC5A7):c.1293C>G (p.Asn431Lys) rs2104383095
NM_021815.5(SLC5A7):c.1349G>A (p.Gly450Glu)
NM_021815.5(SLC5A7):c.178+2T>C
NM_033087.4(ALG2):c.1040del (p.Gly347fs) rs387906281
NM_033087.4(ALG2):c.1193T>C (p.Phe398Ser)
NM_130811.4(SNAP25):c.170T>C (p.Leu57Pro) rs2123120184
NM_130811.4(SNAP25):c.508_528dup (p.Arg176_Gln177insGluIleAspThrGlnAsnArg)
NM_130811.4(SNAP25):c.542T>A (p.Ile181Asn)
NM_130811.4(SNAP25):c.553G>C (p.Ala185Pro) rs1600807788
NM_130811.4(SNAP25):c.589C>T (p.Gln197Ter) rs2064355122
NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro) rs2064355563
NM_130811.4(SNAP25):c.74C>T (p.Ser25Leu)
NM_173660.4(DOK7):c.[1263delC];[1263dupC]
NM_173660.5(DOK7):c.1166_1169del (p.Leu389fs) rs1728633687
NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter) rs544278158
NM_173660.5(DOK7):c.1263del (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1370_1446del (p.Glu457fs)
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_173660.5(DOK7):c.1441dup (p.His481fs) rs1168106708
NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs) rs797045040
NM_173660.5(DOK7):c.190G>C (p.Gly64Arg)
NM_173660.5(DOK7):c.332-1G>A rs1490214819
NM_173660.5(DOK7):c.332-1G>C
NM_173660.5(DOK7):c.332-1G>T rs1490214819
NM_173660.5(DOK7):c.332-2A>G
NM_173660.5(DOK7):c.396C>G (p.His132Gln) rs779798129
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
NM_173660.5(DOK7):c.415G>C (p.Val139Leu) rs571769859
NM_173660.5(DOK7):c.439del (p.Ala147fs) rs1577153029
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)
NM_173660.5(DOK7):c.513C>T (p.Gly171=) rs775583136
NM_173660.5(DOK7):c.533-159_641del rs2109369117
NM_173660.5(DOK7):c.533-2A>G
NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr) rs1553847993
NM_173660.5(DOK7):c.652+1dup rs1727731607
NM_173660.5(DOK7):c.718del (p.Gln240fs) rs2109388978
NM_173660.5(DOK7):c.773-1G>C
NM_173660.5(DOK7):c.957dup (p.Lys320fs) rs794727884
NM_177402.5(SYT2):c.207del (p.Val70fs)
NM_177402.5(SYT2):c.923C>T (p.Pro308Leu) rs587777782
NM_198576.4(AGRN):c.1177+4_1177+50del rs765679438
NM_198576.4(AGRN):c.1798+1G>T
NM_198576.4(AGRN):c.1799-1G>A
NM_198576.4(AGRN):c.226G>A (p.Gly76Ser) rs756623659
NM_198576.4(AGRN):c.2371+1G>T
NM_198576.4(AGRN):c.3632-1G>C
NM_198576.4(AGRN):c.3632-2del
NM_198576.4(AGRN):c.464-2A>G
NM_198576.4(AGRN):c.4745-47_4753del rs1570242061
NM_198576.4(AGRN):c.4922dup (p.Asn1641fs) rs2100682020
NM_198576.4(AGRN):c.5011C>T (p.Arg1671Ter)
NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe) rs587777298
NM_198576.4(AGRN):c.5254-1_5261del
NM_198576.4(AGRN):c.5276T>C (p.Leu1759Pro) rs1557721600
NM_198576.4(AGRN):c.574_578dup (p.Ser194fs) rs1570190059
NM_198576.4(AGRN):c.5876+1G>A rs532386334
NM_198576.4(AGRN):c.667dup (p.Leu223fs) rs1644909838
NM_198576.4(AGRN):c.952+1_952+3del

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