List of variants in gene combination C17orf107, 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.803-2A>G	rs1320610655	0.00002
NM_000080.4(CHRNE):c.105T>A (p.Tyr35Ter)	rs2151098928
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)	rs762368691
NM_000080.4(CHRNE):c.501-10_504dup	rs768552387
NM_000080.4(CHRNE):c.569dup (p.Asn190fs)	rs1969985315
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)	rs753828284

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