ClinVar Miner

List of variants in gene ITGA7 reported as pathogenic for congenital muscular dystrophy due to integrin alpha-7 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
ITGA7, IVSDS, T-C, +2
NC_000012.11:g.(?_56091459)_(56092721_?)del
NM_002206.3(ITGA7):c.1072dup (p.Tyr358fs) rs750756707
NM_002206.3(ITGA7):c.1205del (p.Gly402fs) rs1565629479
NM_002206.3(ITGA7):c.1446_1453del (p.Ile483fs) rs1474512248
NM_002206.3(ITGA7):c.1456C>T (p.Arg486Ter) rs372328960
NM_002206.3(ITGA7):c.1506-2A>G rs1565627745

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.