ClinVar Miner

List of variants in gene SGCG reported as uncertain significance for Limb-Girdle Muscular Dystrophy, Recessive

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000231.3(SGCG):c.*10G>A rs139369964 0.00794
NM_000231.3(SGCG):c.-6T>C rs141771521 0.00749
NM_000231.3(SGCG):c.*185G>A rs115918628 0.00447
NM_000231.3(SGCG):c.*53C>A rs188804783 0.00050
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser) rs147820869 0.00049
NM_000231.3(SGCG):c.596G>A (p.Arg199Gln) rs200191311 0.00016
NM_000231.3(SGCG):c.479T>C (p.Val160Ala) rs527562042 0.00002
NM_000231.3(SGCG):c.703C>T (p.Leu235Phe) rs763780768 0.00001
NM_000231.2(SGCG):c.-118G>A rs886050065
NM_000231.2(SGCG):c.-125A>G rs886050064
NM_000231.3(SGCG):c.*136T>A rs3751372
NM_000231.3(SGCG):c.*474AAGT[3] rs886050066
NM_000231.3(SGCG):c.*571_*576del rs886050067

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.