ClinVar Miner

List of variants reported as pathogenic for Miyoshi myopathy by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
ANO5, IVS14DS, G-A, +5
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter) rs121908953
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp) rs121908957
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) rs121908956
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp) rs121908963
NM_213599.2(ANO5):c.191dupA rs137854521
NM_213599.2(ANO5):c.2272C>T (p.Arg758Cys) rs137854529

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.