ClinVar Miner

List of variants in gene BAG3 reported as likely pathogenic

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Total variants: 27
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HGVS dbSNP
NM_004281.3(BAG3):c.100_107delACCGGCTG (p.Thr34Alafs) rs727505283
NM_004281.3(BAG3):c.1067delC (p.Pro356Hisfs) rs727505109
NM_004281.3(BAG3):c.1161dup (p.Lys388Glnfs) rs1554877765
NM_004281.3(BAG3):c.1240G>T (p.Glu414Ter) rs117749531
NM_004281.3(BAG3):c.1296_1297invAC (p.Gln433Ter)
NM_004281.3(BAG3):c.1297C>T (p.Gln433Ter) rs730880055
NM_004281.3(BAG3):c.1345A>T (p.Lys449Ter) rs1060502815
NM_004281.3(BAG3):c.1363G>A (p.Glu455Lys) rs397516881
NM_004281.3(BAG3):c.1385T>C (p.Leu462Pro) rs397514507
NM_004281.3(BAG3):c.1417C>T (p.Arg473Ter)
NM_004281.3(BAG3):c.1418dup (p.Ala474Serfs)
NM_004281.3(BAG3):c.1630G>C (p.Asp544His) rs786205466
NM_004281.3(BAG3):c.20C>A (p.Ser7Ter)
NM_004281.3(BAG3):c.258C>G (p.Tyr86Ter) rs1554876999
NM_004281.3(BAG3):c.339delC (p.Tyr114Ilefs)
NM_004281.3(BAG3):c.350dupC (p.Gly118Trpfs) rs1554877037
NM_004281.3(BAG3):c.367C>T (p.Arg123Ter) rs387906875
NM_004281.3(BAG3):c.580delA (p.Ser194Alafs) rs1064795700
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004281.3(BAG3):c.670dup (p.Ser224Phefs) rs1135402750
NM_004281.3(BAG3):c.699C>A (p.Tyr233Ter) rs876661342
NM_004281.3(BAG3):c.72delC (p.Gly25Aspfs) rs727502897
NM_004281.3(BAG3):c.730C>T (p.Gln244Ter) rs876657634
NM_004281.3(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_004281.3(BAG3):c.836C>A (p.Ser279Ter) rs751261054
NM_004281.3(BAG3):c.855_859dupGCCAC (p.Leu287Argfs) rs1057518511
NM_004281.3(BAG3):c.909+1G>A rs869025365

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