List of variants in gene combination C17orf107, CHRNE reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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.183_187dup (p.Leu63fs)	rs776927709	0.00001
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu)	rs121909512	0.00001
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu)	rs121909514	0.00001
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs)	rs758687208	0.00001
NM_000080.4(CHRNE):c.934_936del (p.Met312del)	rs1555546465	0.00001
NM_000080.4(CHRNE):c.115dup (p.Ser39fs)	rs977512223
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)	rs762368691
NM_000080.4(CHRNE):c.529_531del (p.Glu177del)	rs779816027
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)	rs753828284
NM_000080.4(CHRNE):c.799C>T (p.Gln267Ter)	rs1567638550
NM_000080.4(CHRNE):c.878_887dup (p.Thr297fs)	rs2507553027

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