ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant distal myopathy by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser) rs887619644
NM_001145809.2(MYH14):c.1979G>A (p.Gly660Asp) rs1568504395
NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys) rs556548077
NM_001458.4(FLNC):c.1199T>C (p.Ile400Thr) rs1562992604
NM_001458.4(FLNC):c.4480C>T (p.Arg1494Trp) rs779079128
NM_001458.4(FLNC):c.904A>G (p.Thr302Ala) rs1410531577
NM_007078.3(LDB3):c.690-4739G>A rs376489385
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn) rs752161415
NM_024919.5(FRMD1):c.508G>T (p.Val170Leu) rs199740559
NM_183357.2(ADCY5):c.1368G>A (p.Met456Ile) rs1286137967

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.