ClinVar Miner

List of variants in gene BAG3 reported as likely pathogenic for cardiomyopathy

Included ClinVar conditions (559):
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004281.4(BAG3):c.100_107del (p.Thr34fs) rs727505283
NM_004281.4(BAG3):c.1067del (p.Pro356fs) rs727505109
NM_004281.4(BAG3):c.1077del (p.Glu360fs)
NM_004281.4(BAG3):c.1119T>A (p.Cys373Ter)
NM_004281.4(BAG3):c.1297C>T (p.Gln433Ter) rs730880055
NM_004281.4(BAG3):c.1345A>T (p.Lys449Ter) rs1060502815
NM_004281.4(BAG3):c.1410del (p.Glu471fs) rs2134069295
NM_004281.4(BAG3):c.1417C>T (p.Arg473Ter) rs199682693
NM_004281.4(BAG3):c.1418dup (p.Ala474fs) rs1589632876
NM_004281.4(BAG3):c.436C>T (p.Gln146Ter)
NM_004281.4(BAG3):c.508-14_514del rs2134064890
NM_004281.4(BAG3):c.508-1G>A
NM_004281.4(BAG3):c.568_577del (p.Ser190fs) rs1847161579
NM_004281.4(BAG3):c.612del (p.Tyr205fs) rs2134065084
NM_004281.4(BAG3):c.625C>G (p.Pro209Ala) rs1589630141
NM_004281.4(BAG3):c.670dup (p.Ser224fs) rs1135402750
NM_004281.4(BAG3):c.72del (p.Gly25fs) rs727502897
NM_004281.4(BAG3):c.730C>T (p.Gln244Ter) rs876657634
NM_004281.4(BAG3):c.751C>T (p.Gln251Ter) rs1343231277
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_004281.4(BAG3):c.836C>A (p.Ser279Ter) rs751261054
NM_004281.4(BAG3):c.901_902del (p.Arg301fs)
NM_004281.4(BAG3):c.909+1G>A rs869025365
NM_004281.4(BAG3):c.969_972del (p.Lys324fs) rs1589632398

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