List of variants in gene combination CHRNE, LOC130060041 reported as likely benign for Congenital myasthenic syndrome

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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.1076C>T (p.Pro359Leu)	rs192195094	0.00240
NM_000080.4(CHRNE):c.1074G>A (p.Pro358=)	rs745744138	0.00006
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=)	rs767374241	0.00006
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=)	rs772143528	0.00004
NM_000080.4(CHRNE):c.1098C>T (p.Ala366=)	rs778313885	0.00001

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