List of variants in gene combination C17orf107, CHRNE reported as pathogenic 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)	rs144169073	0.00061
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs)	rs776927709	0.00002
NM_000080.4(CHRNE):c.803-2A>G	rs1320610655	0.00002
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs)	rs758687208	0.00001
NM_000080.4(CHRNE):c.84T>G (p.Tyr28Ter)	rs748103983	0.00001
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)	rs762368691
NM_000080.4(CHRNE):c.452_454del (p.Glu151del)	rs2151098283
NM_000080.4(CHRNE):c.535A>C (p.Thr179Pro)
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)	rs753828284
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe)	rs28999110
NM_000080.4(CHRNE):c.916A>G (p.Arg306Gly)	rs1969955431

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