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

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: 20

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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.422C>T (p.Pro141Leu)	rs121909512	0.00001
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs)	rs758687208	0.00001
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)	rs762368691
NM_000080.4(CHRNE):c.295C>T (p.Arg99Ter)	rs1278514080
NM_000080.4(CHRNE):c.355C>T (p.Gln119Ter)
NM_000080.4(CHRNE):c.372C>G (p.Tyr124Ter)	rs894382905
NM_000080.4(CHRNE):c.46+2del
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)	rs753828284
NM_000080.4(CHRNE):c.617_635del (p.Ala206fs)	rs1969972830
NM_000080.4(CHRNE):c.684_687del (p.Asp229fs)	rs1597619440
NM_000080.4(CHRNE):c.712C>T (p.Arg238Trp)	rs1567638676
NM_000080.4(CHRNE):c.764C>T (p.Ser255Leu)	rs1555546765
NM_000080.4(CHRNE):c.794del (p.Pro265fs)	rs756675414
NM_000080.4(CHRNE):c.876del (p.Ile294fs)
NM_000080.4(CHRNE):c.878_887dup (p.Thr297fs)
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met)	rs2151096983
NM_000080.4(CHRNE):c.918-1G>A	rs1407243713

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