List of variants reported as pathogenic for congenital myasthenic syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 28

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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_020549.5(CHAT):c.406G>A (p.Val136Met)	rs201479289	0.00011
NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter)	rs200761047	0.00005
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr)	rs372760913	0.00004
NM_020549.5(CHAT):c.620G>A (p.Arg207His)	rs764497513	0.00003
NM_001244710.2(GFPT1):c.44C>T (p.Thr15Met)	rs751097758	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_005055.5(RAPSN):c.493G>A (p.Val165Met)	rs761584017	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
NC_000017.10:g.(7352108_7357615)_(7357840_7358602)del
NM_000080.4(CHRNE):c.1116_1128del (p.Ser373fs)
NM_000080.4(CHRNE):c.452_454del (p.Glu151del)	rs2151098283
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)	rs753828284
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln)	rs760022829
NM_005055.5(RAPSN):c.149_153delinsAGATGGGCCGCTACAAGGAGATGG (p.Val50fs)	rs1131691986
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_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.957dup (p.Lys320fs)	rs794727884

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