ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2C by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
GRCh38/hg38 13q12.12(chr13:23315907-23322480)x0
GRCh38/hg38 13q12.12(chr13:23320540-23320858)x0
NM_000231.3(SGCG):c.505+2T>C rs1593216248
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422

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.