ClinVar Miner

List of variants in gene STAC3 reported as benign for Bailey-Bloch congenital myopathy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_145064.3(STAC3):c.1086G>A (p.Glu362=) rs61739642 0.01278
NM_145064.3(STAC3):c.996+17A>T rs150268069 0.00819
NM_145064.3(STAC3):c.570G>A (p.Lys190=) rs76667525 0.00762
NM_145064.3(STAC3):c.604-8C>T rs76823783 0.00762
NM_145064.3(STAC3):c.1023G>C (p.Ala341=) rs61747067 0.00529
NM_145064.3(STAC3):c.355C>T (p.Arg119Cys) rs146313451 0.00131
NM_145064.3(STAC3):c.66+30dup rs35971501
NM_145064.3(STAC3):c.721-3del
NM_145064.3(STAC3):c.842A>G (p.Asn281Ser) rs115276341

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.