ClinVar Miner

List of variants reported as pathogenic for Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)	rs762368691
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs)	rs773526895
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)	rs753828284

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