ClinVar Miner

List of variants reported as benign for autosomal dominant mitochondrial myopathy with exercise intolerance by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
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.