ClinVar Miner

List of variants reported as pathogenic for Congenital myasthenic syndrome

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
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_005677.4(COLQ):c.1289A>C (p.Tyr430Ser) rs121908923 0.00005
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr) rs372760913 0.00004
NM_000080.4(CHRNE):c.971del (p.Ile324fs) rs879255562 0.00003
NM_020549.5(CHAT):c.620G>A (p.Arg207His) rs764497513 0.00003
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs) rs776927709 0.00002
NM_000080.4(CHRNE):c.803-2A>G rs1320610655 0.00002
NM_001244710.2(GFPT1):c.44C>T (p.Thr15Met) rs751097758 0.00002
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp) rs139574075 0.00002
NM_000080.4(CHRNE):c.1052C>T (p.Pro351Leu) rs1168592296 0.00001
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs) rs758687208 0.00001
NM_000080.4(CHRNE):c.84T>G (p.Tyr28Ter) rs748103983 0.00001
NM_005055.5(RAPSN):c.493G>A (p.Val165Met) rs761584017 0.00001
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter) rs1595903667 0.00001
NM_005677.4(COLQ):c.219+1G>C rs149020371 0.00001
NM_020549.5(CHAT):c.1642C>T (p.Arg548Ter) rs369251527 0.00001
NM_173660.5(DOK7):c.331+1G>T rs1349476281 0.00001
1p36.33 deletion (0.48 Mb)
NC_000017.11:g.4902680_4903969delinsTCTGGATGCG
NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs) rs932032926
NM_000080.4(CHRNE):c.1090dup (p.Arg364fs) rs1156634884
NM_000080.4(CHRNE):c.1116_1128del (p.Ser373fs)
NM_000080.4(CHRNE):c.1250_1268dup (p.Val424fs) rs781774131
NM_000080.4(CHRNE):c.130dup (p.Glu44fs) rs762368691
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) rs773526895
NM_000080.4(CHRNE):c.452_454del (p.Glu151del) rs2151098283
NM_000080.4(CHRNE):c.535A>C (p.Thr179Pro)
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.916A>G (p.Arg306Gly) rs1969955431
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln) rs760022829
NM_001244710.2(GFPT1):c.1588C>T (p.Arg530Trp) rs1024585946
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.149_153delinsAGATGGGCCGCTACAAGGAGATGG (p.Val50fs) rs1131691986
NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter) rs749287203
NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter) rs201947904
NM_005677.4(COLQ):c.1082del (p.Pro361fs) rs769982050
NM_005677.4(COLQ):c.1298+3A>G rs1384843815
NM_005677.4(COLQ):c.393+1G>A rs1085307792
NM_005677.4(COLQ):c.700G>T (p.Gly234Ter) rs2062264317
NM_014231.5(VAMP1):c.146G>C (p.Arg49Pro) rs754046104
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1143del (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1263dup (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.379G>A (p.Gly127Ser)
NM_173660.5(DOK7):c.957dup (p.Lys320fs) rs794727884

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