ClinVar Miner

List of variants reported as likely pathogenic for Distal myopathy Markesbery-Griggs type by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
Download table as spreadsheet
HGVS dbSNP
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr) rs281864928

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.