List of variants in gene CHRNE reported as pathogenic for 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.971del (p.Ile324fs)	rs879255562	0.00003
NM_000080.4(CHRNE):c.1291G>C (p.Ala431Pro)	rs121909517
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs)	rs773526895
NM_000080.4(CHRNE):c.1364ACA[1] (p.Asn456del)	rs748289906
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln)	rs760022829

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