ClinVar Miner

List of variants reported as likely pathogenic for congenital myopathy by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.1544T>C (p.Met515Thr) rs863224900
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_002693.2(POLG):c.[2554C>T];[32G>A]
NM_133378.4(TTN):c.[98049dupA];[99250C>T]

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.