List of variants reported as benign for Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_213720.3(CHCHD10):c.261+11A>G	rs131444	0.92009
NM_213720.3(CHCHD10):c.48A>C (p.Pro16=)	rs179468	0.91291
NM_213720.3(CHCHD10):c.286C>A (p.Pro96Thr)	rs111677724	0.05376
NM_213720.3(CHCHD10):c.42-7C>G	rs567239313	0.01558
NM_213720.3(CHCHD10):c.234G>A (p.Ser78=)	rs111527940	0.00755
NM_213720.3(CHCHD10):c.136G>T (p.Ala46Ser)	rs200831077	0.00420
NM_213720.3(CHCHD10):c.330G>A (p.Leu110=)	rs138183274	0.00227
NM_213720.3(CHCHD10):c.41+7G>A	rs141526972	0.00147
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=)	rs9153

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.