List of variants reported as pathogenic for congenital myasthenic syndrome by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 5

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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.1033-2A>T	rs786204773	0.00001
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)	rs762368691
NM_005677.4(COLQ):c.1082del (p.Pro361fs)	rs769982050
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)	rs606231128

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