ClinVar Miner

List of variants reported as benign for Autosomal recessive limb-girdle muscular dystrophy type 2C by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) rs1800354 0.83747
NM_000231.3(SGCG):c.703-53C>T rs9510700 0.77702
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_000231.3(SGCG):c.579-28T>G rs1536727 0.42785
NM_000231.3(SGCG):c.579-32T>G rs1536725 0.39650
NM_000231.3(SGCG):c.579-24T>G rs1536729
NM_000231.3(SGCG):c.579-26T>G rs1536728

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.