ClinVar Miner

List of variants reported as pathogenic for congenital myasthenic syndrome by OMIM

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_006901.4(MYO9A):c.6848G>A (p.Arg2283His) rs142345927 0.00245
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys) rs201322234 0.00030
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083 0.00018
NM_006901.4(MYO9A):c.5093A>G (p.Asp1698Gly) rs150726107 0.00017
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) rs201434993 0.00010
NM_020549.5(CHAT):c.629T>C (p.Leu210Pro) rs121912820 0.00010
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_005677.4(COLQ):c.1289A>C (p.Tyr430Ser) rs121908923 0.00005
NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys) rs145955590 0.00004
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_144988.4(ALG14):c.310C>T (p.Arg104Ter) rs367570129 0.00004
NM_000080.4(CHRNE):c.971del (p.Ile324fs) rs879255562 0.00003
NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile) rs376039938 0.00003
NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys) rs374155761 0.00003
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) rs372635387 0.00002
NM_001171613.2(PREPL):c.616C>T (p.Arg206Ter) rs145356495 0.00002
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys) rs104894294 0.00002
NM_000079.4(CHRNA1):c.526G>A (p.Val176Met) rs137852799 0.00001
NM_000079.4(CHRNA1):c.913G>A (p.Val305Ile) rs137852804 0.00001
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp) rs374391312 0.00001
NM_000080.4(CHRNE):c.-96C>T rs748144899 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_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) rs879253789 0.00001
NM_000334.4(SCN4A):c.4370G>A (p.Arg1457His) rs863225046 0.00001
NM_000751.3(CHRND):c.236T>A (p.Ile79Lys) rs121909509 0.00001
NM_001244710.2(GFPT1):c.719G>A (p.Trp240Ter) rs1574066341 0.00001
NM_001382.4(DPAGT1):c.699dup (p.Thr234fs) rs397515321 0.00001
NM_001382.4(DPAGT1):c.791T>G (p.Val264Gly) rs387907245 0.00001
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His) rs746136135 0.00001
NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro) rs104894300 0.00001
NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys) rs121909255 0.00001
NM_005677.4(COLQ):c.640G>T (p.Glu214Ter) rs104893733 0.00001
NM_005677.4(COLQ):c.943C>T (p.Arg315Ter) rs121908924 0.00001
NM_005984.5(SLC25A1):c.740G>A (p.Arg247Gln) rs781908532 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.1493C>T (p.Ser498Leu) rs121912821 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.631C>G (p.Pro211Ala) rs121912815 0.00001
NM_021815.5(SLC5A7):c.1082G>A (p.Arg361Gln) rs147656110 0.00001
NM_173660.5(DOK7):c.331+1G>T rs1349476281 0.00001
NC_000002.11:g.44559541_44571008del
NM_000079.4(CHRNA1):c.1314C>G (p.Cys438Trp) rs137852808
NM_000079.4(CHRNA1):c.235-353G>A rs2105350984
NM_000079.4(CHRNA1):c.441del (p.Cys148fs)
NM_000079.4(CHRNA1):c.454G>C (p.Val152Leu) rs137852807
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser) rs137852801
NM_000079.4(CHRNA1):c.711C>G (p.Asn237Lys) rs137852798
NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val) rs137852805
NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe) rs137852803
NM_000079.4(CHRNA1):c.821C>T (p.Thr274Ile) rs137852800
NM_000079.4(CHRNA1):c.826T>C (p.Phe276Leu) rs137852806
NM_000079.4(CHRNA1):c.866G>T (p.Ser289Ile) rs137852802
NM_000080.4(CHRNE):c.1030del (p.His344fs) rs879253723
NM_000080.4(CHRNE):c.1161_1162insT (p.Lys388Ter) rs886037628
NM_000080.4(CHRNE):c.1291G>C (p.Ala431Pro) rs121909517
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) rs773526895
NM_000080.4(CHRNE):c.223T>C (p.Trp75Arg) rs193919341
NM_000080.4(CHRNE):c.250C>T (p.Arg84Ter) rs121909513
NM_000080.4(CHRNE):c.344+1G>A rs879253722
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000080.4(CHRNE):c.501-16G>A rs879255563
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs) rs753828284
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe) rs28999110
NM_000080.4(CHRNE):c.850A>C (p.Thr284Pro) rs121909510
NM_000080.4(CHRNE):c.865C>T (p.Leu289Phe) rs121909511
NM_000080.4(CHRNE):c.892_894del (p.Ser298del) rs398122830
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000334.4(SCN4A):c.4325T>A (p.Val1442Glu) rs121908553
NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu) rs80338951
NM_000747.3(CHRNB1):c.1347_1355del (p.Glu449_Glu451del)
NM_000747.3(CHRNB1):c.821_1044del p.Gly274Aspfs
NM_000747.3(CHRNB1):c.853C>A (p.Leu285Met) rs137852811
NM_000747.3(CHRNB1):c.865G>A (p.Val289Met) rs137852810
NM_000751.3(CHRND):c.188T>C (p.Leu63Pro) rs121909508
NM_000751.3(CHRND):c.238G>A (p.Glu80Lys) rs121909504
NM_000751.3(CHRND):c.812C>A (p.Pro271Gln) rs121909503
NM_000751.3(CHRND):c.820_820+1del rs879255564
NM_000751.3(CHRND):c.866C>T (p.Ser289Phe) rs121909502
NM_000751.3(CHRND):c.901_1048-282del
NM_001130103.1(COL13A1):c.523-1delG rs864309663
NM_001171613.2(PREPL):c.1337T>G (p.Leu446Ter) rs1553352792
NM_001171613.2(PREPL):c.540del (p.Ile180_Met181insTer) rs1057523690
NM_001171613.2(PREPL):c.94_97del (p.Val32fs) rs1436090495
NM_001244710.2(GFPT1):c.1096G>T (p.Asp366Tyr) rs1574058076
NM_001244710.2(GFPT1):c.224dup (p.Gln76fs) rs1671535986
NM_001244710.2(GFPT1):c.41G>T (p.Arg14Leu) rs922548333
NM_001244710.2(GFPT1):c.43A>G (p.Thr15Ala) rs387906638
NM_001244710.2(GFPT1):c.452C>A (p.Thr151Lys) rs1558761046
NM_001244710.2(GFPT1):c.621del (p.Leu207_Leu208insTer) rs1574066599
NM_001368882.1(COL13A1):c.1206del (p.Leu403fs) rs864309662
NM_001368882.1(COL13A1):c.1619del (p.Asn540fs) rs2135829327
NM_001368882.1(COL13A1):c.1884_1886delinsCCCT (p.Ser629fs) rs2136077497
NM_001368882.1(COL13A1):c.675C>G (p.Tyr225Ter) rs2134842358
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile) rs387907243
NM_001382.4(DPAGT1):c.358C>A (p.Leu120Met) rs387907244
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys) rs786205153
NM_003055.3(SLC18A3):c.1192G>C (p.Asp398His) rs1057517666
NM_003055.3(SLC18A3):c.557G>C (p.Gly186Ala) rs1057517665
NM_005055.5(RAPSN):c.1083_1084dup (p.Tyr362fs) rs786205885
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs) rs1555142142
NM_005055.5(RAPSN):c.193-15C>A rs45547231
NM_005055.5(RAPSN):c.46dup (p.Leu16fs) rs2153311780
NM_005055.5(RAPSN):c.549_553dup (p.Phe185fs) rs786200904
NM_005055.5(RAPSN):c.807C>A (p.Tyr269Ter) rs104894301
NM_005592.4(MUSK):c.1031C>G (p.Pro344Arg) rs387906803
NM_005592.4(MUSK):c.1815G>A (p.Met605Ile) rs766640370
NM_005592.4(MUSK):c.2180C>T (p.Ala727Val) rs397515450
NM_005592.4(MUSK):c.220dup (p.Arg74fs) rs879255561
NM_005677.4(COLQ):c.1082del (p.Pro361fs) rs769982050
NM_005677.4(COLQ):c.1298+3A>G rs1384843815
NM_005677.4(COLQ):c.506C>G (p.Ser169Ter) rs104893734
NM_005677.4(COLQ):c.718G>T (p.Gly240Ter) rs104893735
NM_005677.4(COLQ):c.788dup (p.Pro265fs) rs759911990
NM_005677.4(COLQ):c.844A>T (p.Arg282Ter) rs121908922
NM_005677.4:c.107_321del
NM_005984.5(SLC25A1):c.205G>T (p.Asp69Tyr) rs2083996886
NM_006901.4(MYO9A):c.4550G>A (p.Arg1517His) rs149046541
NM_006901.4(MYO9A):c.6845G>A (p.Gly2282Glu) rs1567176190
NM_014231.5(VAMP1):c.128_129del (p.Glu43fs) rs1565527140
NM_014231.5(VAMP1):c.129+1G>A rs1565527137
NM_014231.5(VAMP1):c.146G>C (p.Arg49Pro) rs754046104
NM_014231.5(VAMP1):c.340del (p.Ile114fs) rs746220436
NM_014231.5(VAMP1):c.51_64del (p.Gly18fs) rs1565527239
NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr) rs121912823
NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly) rs121912818
NM_020549.5(CHAT):c.522_523dup (p.Leu175fs) rs1404321683
NM_020549.5(CHAT):c.914T>C (p.Ile305Thr) rs75466054
NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer) rs886039767
NM_021815.5(SLC5A7):c.143A>G (p.Asp48Gly) rs886039768
NM_021815.5(SLC5A7):c.194G>A (p.Gly65Glu) rs886039765
NM_021815.5(SLC5A7):c.313C>T (p.Pro105Ser) rs886039766
NM_033087.4(ALG2):c.203T>G (p.Val68Gly) rs730882051
NM_033087.4(ALG2):c.214_224delinsAGTCCCCG (p.Gly72_Leu75delinsSerProArg) rs730882123
NM_130811.4(SNAP25):c.200T>A (p.Ile67Asn) rs1555794286
NM_144988.4(ALG14):c.194C>T (p.Pro65Leu) rs730882050
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1143dup (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1263dup (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs) rs606231131
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_173660.5(DOK7):c.539G>C (p.Gly180Ala) rs118203994
NM_173660.5(DOK7):c.548_551del (p.Phe183fs) rs606231130
NM_173660.5(DOK7):c.55-1G>T rs863223277
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter) rs118203995
NM_173660.5(DOK7):c.957del (p.Lys320fs) rs794727884
NM_177402.5(SYT2):c.1082_1096del (p.Asp361_Leu365del) rs2149063996
NM_177402.5(SYT2):c.1094T>C (p.Leu365Pro) rs2149064005
NM_177402.5(SYT2):c.1112T>A (p.Ile371Lys) rs1690318147
NM_177402.5(SYT2):c.1191del (p.Arg397fs) rs2149063864
NM_177402.5(SYT2):c.465+1G>A rs2149069543
NM_177402.5(SYT2):c.725dup (p.Val243fs) rs2149068434
NM_177402.5(SYT2):c.805G>T (p.Glu269Ter) rs2149067131
NM_177402.5(SYT2):c.920A>C (p.Asp307Ala) rs587777781
NM_177402.5(SYT2):c.923C>T (p.Pro308Leu) rs587777782
NM_198576.4(AGRN):c.1057C>T (p.Gln353Ter) rs587777299
NM_198576.4(AGRN):c.5125G>C (p.Gly1709Arg) rs199476396
NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe) rs587777298

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