List of variants in gene CHRND reported as benign for neuromuscular junction disease

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000751.3(CHRND):c.12A>G (p.Pro4=)	rs2245601	0.45730
NM_000751.3(CHRND):c.1047+9T>C	rs3762528	0.07349
NM_000751.3(CHRND):c.*424C>T	rs4973046	0.06579
NM_000751.3(CHRND):c.120G>A (p.Lys40=)	rs55921262	0.03225
NM_000751.3(CHRND):c.*1025A>G	rs115132742	0.02647
NM_000751.3(CHRND):c.*149A>G	rs114315112	0.01306
NM_000751.3(CHRND):c.*1240T>C	rs77032539	0.00369
NM_000751.3(CHRND):c.117C>G (p.Asn39Lys)	rs77084550	0.00300

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.