ClinVar Miner

List of variants in gene ANO5 studied for Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L; Miyoshi muscular dystrophy 3

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_001142649.2(ANO5):c.986dup (p.Leu329fs) rs398124626
NM_213599.2(ANO5):c.1081G>C (p.Asp361His) rs1554929295
NM_213599.2(ANO5):c.1295C>G (p.Ala432Gly) rs137854524
NM_213599.2(ANO5):c.148C>T (p.Arg50Ter) rs1168346560
NM_213599.2(ANO5):c.1898+1G>A rs142027093
NM_213599.2(ANO5):c.304_308del (p.Lys102fs) rs776859202
NM_213599.2(ANO5):c.692G>T (p.Gly231Val) rs137854523

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.