ClinVar Miner

List of variants in gene FKTN reported as pathogenic for Limb-girdle muscular dystrophy-dystroglycanopathy, type C4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_006731.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_006731.2(FKTN):c.1363del (p.Asp455fs) rs587777814
NM_006731.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_006731.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_006731.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992

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.