ClinVar Miner

List of variants in gene BAG3 reported as pathogenic for Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NC_000010.10:g.(?_121435966)_(121437012_?)del
NM_004281.3(BAG3):c.1363G>A (p.Glu455Lys) rs397516881
NM_004281.3(BAG3):c.146G>A (p.Trp49Ter) rs1564767043
NM_004281.3(BAG3):c.262C>T (p.Gln88Ter) rs1554877001
NM_004281.3(BAG3):c.268C>T (p.Arg90Ter) rs1057517945
NM_004281.3(BAG3):c.277dup (p.Tyr93fs) rs1564773589
NM_004281.3(BAG3):c.367C>T (p.Arg123Ter) rs387906875
NM_004281.3(BAG3):c.514C>T (p.Gln172Ter)
NM_004281.3(BAG3):c.537C>A (p.Cys179Ter) rs1564774433
NM_004281.3(BAG3):c.625C>T (p.Pro209Ser)
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004281.3(BAG3):c.699C>A (p.Tyr233Ter) rs876661342
NM_004281.3(BAG3):c.730C>T (p.Gln244Ter) rs876657634
NM_004281.3(BAG3):c.925C>T (p.Arg309Ter) rs869248137

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.