List of variants reported as pathogenic for congenital myasthenic syndrome 3B by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000751.3(CHRND):c.236T>A (p.Ile79Lys)	rs121909509	0.00001
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

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