ClinVar Miner

List of variants studied for GNE myopathy by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541 0.00002
NM_005476.7(GNE):c.1609T>C (p.Phe537Leu) rs1447255482
NM_005476.7(GNE):c.1868del (p.Gly623fs) rs2489591806
NM_005476.7(GNE):c.27G>C (p.Lys9Asn) rs2489810805
NM_005476.7(GNE):c.469C>A (p.His157Asn) rs1587339749

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.