ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2K by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040

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.