ClinVar Miner

List of variants in gene SGCD reported as pathogenic for Limb-girdle muscular dystrophy, type 2F

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_000337.5(SGCD):c.391G>C (p.Ala131Pro) rs267607045
NM_000337.5(SGCD):c.4-1G>A rs1554094927
NM_000337.5(SGCD):c.493C>T (p.Arg165Ter) rs121909295
NM_000337.5(SGCD):c.74_77dup (p.Ile27fs) rs1554094947
NM_000337.5(SGCD):c.784G>A (p.Glu262Lys) rs121909297
NM_000337.5(SGCD):c.89G>A (p.Trp30Ter) rs121909296
SGCD, 1-BP DEL, 656C

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.