List of variants in gene combination C17orf107, CHRNE reported as likely pathogenic for Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B

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: 23

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)	rs144169073	0.00061
NM_000080.4(CHRNE):c.-95G>A	rs990457690	0.00002
NC_000017.11:g.4903159G>A	rs748144899	0.00001
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu)	rs121909514	0.00001
NM_000080.4(CHRNE):c.934_936del (p.Met312del)	rs1555546465	0.00001
NM_000080.4(CHRNE):c.219dup (p.Val74fs)	rs2507562598
NM_000080.4(CHRNE):c.235-2A>G	rs1597622118
NM_000080.4(CHRNE):c.2T>C (p.Met1Thr)
NM_000080.4(CHRNE):c.445_458delinsA (p.Ala149fs)	rs1597621353
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)	rs121909516
NM_000080.4(CHRNE):c.501-16G>A	rs879255563
NM_000080.4(CHRNE):c.601+1G>T	rs2507556876
NM_000080.4(CHRNE):c.610G>A (p.Glu204Lys)	rs2151097489
NM_000080.4(CHRNE):c.614G>A (p.Trp205Ter)
NM_000080.4(CHRNE):c.627del (p.Cys210fs)
NM_000080.4(CHRNE):c.710G>C (p.Arg237Pro)
NM_000080.4(CHRNE):c.764C>T (p.Ser255Leu)	rs1555546765
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)	rs759226183
NM_000080.4(CHRNE):c.794del (p.Pro265fs)	rs756675414
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter)	rs773929089
NM_000080.4(CHRNE):c.848_852dup (p.Val285fs)	rs1567638401
NM_000080.4(CHRNE):c.860dup (p.Leu287fs)
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)	rs370019023

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.