ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln) rs139618850 0.00009
NM_213599.2(ANO5):c.[155A>G];[191dupA]
NM_213599.3(ANO5):c.1158del (p.Phe386fs) rs1564936489
NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter) rs754889480
NM_213599.3(ANO5):c.1418_1421delinsGGACGACACCAGTGACGA (p.Val473fs)

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.