ClinVar Miner

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

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 162
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HGVS dbSNP gnomAD frequency
NM_001171613.2(PREPL):c.1753+1G>T rs148092524 0.00009
NM_001382.4(DPAGT1):c.1139C>T (p.Thr380Ile) rs776720609 0.00004
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_001244710.2(GFPT1):c.209A>G (p.Asp70Gly) rs530830788 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_198576.4(AGRN):c.5012G>A (p.Arg1671Gln) rs769667244 0.00002
NM_000080.4(CHRNE):c.1033-2A>T rs786204773 0.00001
NM_000080.4(CHRNE):c.1220-1G>A rs373710822 0.00001
NM_000080.4(CHRNE):c.794C>G (p.Pro265Arg) rs759226183 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_001382.4(DPAGT1):c.643+2T>C rs774754436 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.872G>A (p.Gly291Asp) rs374604570 0.00001
NM_005677.4(COLQ):c.954+1G>A rs757060689 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.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
NC_000002.12:g.(?_69363535)_(69363680_?)del
NC_000009.11:g.(?_113431213)_(113441760_?)del
NC_000009.11:g.(?_113457663)_(113524508_?)dup
NC_000009.11:g.(?_113496521)_(113524498_?)dup
NM_000080.4(CHRNE):c.1032+1G>A rs1458613529
NM_000080.4(CHRNE):c.1033-2del
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.1297_1314dup (p.Ser433_Glu438dup) rs1969834618
NM_000080.4(CHRNE):c.1388T>G (p.Leu463Arg)
NM_000080.4(CHRNE):c.189+1G>A
NM_000080.4(CHRNE):c.190-2A>G
NM_000080.4(CHRNE):c.235-2A>G rs1597622118
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.421C>A (p.Pro141Thr) rs483353045
NM_000080.4(CHRNE):c.421C>G (p.Pro141Ala) rs483353045
NM_000080.4(CHRNE):c.443G>A (p.Cys148Tyr)
NM_000080.4(CHRNE):c.46+1G>T rs746199600
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.501-1G>C
NM_000080.4(CHRNE):c.529_531del (p.Glu177del) rs779816027
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.713G>A (p.Arg238Gln) rs2151097307
NM_000080.4(CHRNE):c.764C>G (p.Ser255Trp)
NM_000080.4(CHRNE):c.803-1G>T
NM_000080.4(CHRNE):c.904C>G (p.Pro302Ala) rs979787967
NM_000080.4(CHRNE):c.905C>T (p.Pro302Leu) rs370019023
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln) rs760022829
NM_000747.3(CHRNB1):c.199-2A>C
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.757_820+135del
NM_000747.3(CHRNB1):c.854T>C (p.Leu285Pro) rs2150842362
NM_001145536.2(C17orf107):c.*1010C>G rs774425374
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.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_001244710.2(GFPT1):c.1105+1G>A rs1553389102
NM_001244710.2(GFPT1):c.1106-1G>T rs1670970306
NM_001244710.2(GFPT1):c.408+5G>A rs1558762013
NM_001382.4(DPAGT1):c.1005+1G>A
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile) rs387907243
NM_001382.4(DPAGT1):c.644-1G>T rs2134903748
NM_002334.4(LRP4):c.1184-2A>G
NM_002334.4(LRP4):c.2507-1G>A
NM_002334.4(LRP4):c.3699+1G>A
NM_002334.4(LRP4):c.547+1G>A rs762425885
NM_002334.4(LRP4):c.898G>A (p.Asp300Asn)
NM_005055.5(RAPSN):c.133G>T (p.Val45Leu)
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.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_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.2461C>T (p.Leu821Phe) rs2078085499
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.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.106+2_106+10del
NM_005677.4(COLQ):c.107-1G>A rs1269227357
NM_005677.4(COLQ):c.176C>A (p.Pro59Gln)
NM_005677.4(COLQ):c.366+1G>C rs2125123160
NM_005677.4(COLQ):c.393+1G>A rs1085307792
NM_005677.4(COLQ):c.529-2A>G rs755236236
NM_005677.4(COLQ):c.814+2T>C rs1002244829
NM_020549.5(CHAT):c.1060A>T (p.Thr354Ser) rs2132735749
NM_020549.5(CHAT):c.1282-2A>T
NM_020549.5(CHAT):c.1383-1G>A rs2132811750
NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly) rs121912818
NM_020549.5(CHAT):c.1663G>A (p.Glu555Lys) rs757303526
NM_020549.5(CHAT):c.1678C>T (p.Arg560Cys)
NM_020549.5(CHAT):c.1721C>T (p.Thr574Ile) rs1839995781
NM_020549.5(CHAT):c.1896_1918del (p.Ala633fs) rs2132852540
NM_020549.5(CHAT):c.1977+1_1977+9del rs1207292931
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_033087.4(ALG2):c.1040del (p.Gly347fs) rs387906281
NM_130811.4(SNAP25):c.508_528dup (p.Arg176_Gln177insGluIleAspThrGlnAsnArg)
NM_130811.4(SNAP25):c.542T>A (p.Ile181Asn)
NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro) rs2064355563
NM_130811.4(SNAP25):c.74C>T (p.Ser25Leu)
NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter) rs544278158
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.533-159_641del rs2109369117
NM_173660.5(DOK7):c.652+1dup rs1727731607
NM_173660.5(DOK7):c.773-1G>C
NM_173660.5(DOK7):c.957dup (p.Lys320fs) rs794727884
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.5179G>T (p.Val1727Phe) rs587777298
NM_198576.4(AGRN):c.5876+1G>A rs532386334
NM_198576.4(AGRN):c.952+1_952+3del

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