ClinVar Miner

List of variants reported as likely pathogenic for Myofibrillar myopathy 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_001927.4(DES):c.1151A>G (p.His384Arg) rs1553603566
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr) rs61130669
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.1A>G (p.Met1Val) rs1057523274
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.735+1G>A rs397516698
NM_001927.4(DES):c.735+1G>C rs397516698

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.