List of variants reported as pathogenic for Congenital myasthenic syndrome 4A by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)	rs201434993	0.00010
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe)	rs28999110
NM_000080.4(CHRNE):c.850A>C (p.Thr284Pro)	rs121909510
NM_000080.4(CHRNE):c.865C>T (p.Leu289Phe)	rs121909511
NM_000080.4(CHRNE):c.892_894del (p.Ser298del)	rs398122830

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