List of variants in gene CHRNE reported as pathogenic for Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.971del (p.Ile324fs)	rs879255562	0.00003
NM_000080.4(CHRNE):c.1255G>T (p.Glu419Ter)	rs754975887
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs)	rs773526895

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