List of variants reported as likely benign for Miyoshi myopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_213599.3(ANO5):c.*1286G>T	rs7925081	0.65457
NM_213599.3(ANO5):c.*496A>G	rs10766930	0.53080
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)	rs17718530	0.23571
NM_001130987.2(DYSF):c.6321+15C>T	rs2559082	0.19470
NM_001130987.2(DYSF):c.1276+11C>T	rs35982795	0.15096
NM_001130987.2(DYSF):c.396C>T (p.Pro132=)	rs34603128	0.14353
NM_001130987.2(DYSF):c.888+11T>C	rs13428076	0.13574
NM_213599.3(ANO5):c.*1521T>C	rs73483433	0.09970
NM_001130987.2(DYSF):c.951+4T>C	rs11903960	0.09951
NM_213599.3(ANO5):c.*1313A>G	rs73483432	0.09785
NM_001130987.2(DYSF):c.1038C>T (p.His346=)	rs36122356	0.06463
NM_213599.3(ANO5):c.*3152G>A	rs79486036	0.04921
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val)	rs34671418	0.04349
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)	rs35721373	0.03282
NM_001130987.2(DYSF):c.666T>C (p.Pro222=)	rs35392229	0.03244
NM_001130987.2(DYSF):c.1577-1635C>G	rs76402294	0.03029
NM_001130987.2(DYSF):c.*199T>G	rs13429381	0.02954
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)	rs13407355	0.02232
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=)	rs2303607	0.02075
NM_213599.3(ANO5):c.*1429A>G	rs78143145	0.00911
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3])	rs398123779
NM_213599.3(ANO5):c.*1762del	rs398015552
NM_213599.3(ANO5):c.*1890AAGA[1]	rs397786204
NM_213599.3(ANO5):c.*3481dup	rs147581685
NM_213599.3(ANO5):c.-217G>T	rs73479393
NM_213599.3(ANO5):c.364-8del	rs146983312
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe)	rs7481951

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.