ClinVar Miner

List of variants in gene BAG3 reported as pathogenic

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Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp) rs387906874 0.00008
NM_004281.4(BAG3):c.652C>T (p.Arg218Trp) rs397514506 0.00004
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NC_000010.10:g.(?_121411178)_(121437012_?)del
NC_000010.10:g.(?_121411188)_(121411387_?)del
NC_000010.10:g.(?_121435956)_(121436794_?)del
NC_000010.11:g.(?_119676454)_(119677500_?)del
NC_000010.11:g.119674392_119683124del
NC_000010.11:g.119675031_119678711del
NM_004281.4(BAG3):c.1009dup (p.Ile337fs)
NM_004281.4(BAG3):c.1013dup (p.Ile339fs)
NM_004281.4(BAG3):c.1031_1032del (p.Lys344fs) rs1847237761
NM_004281.4(BAG3):c.1034_1038del (p.Glu345fs) rs1554877731
NM_004281.4(BAG3):c.1057C>T (p.Gln353Ter) rs1847238300
NM_004281.4(BAG3):c.1057del (p.Gln353fs) rs2134068813
NM_004281.4(BAG3):c.1067del (p.Pro356fs) rs727505109
NM_004281.4(BAG3):c.1067dup (p.Pro357fs)
NM_004281.4(BAG3):c.1088_1708del (p.Glu363_Pro569del) rs2134068860
NM_004281.4(BAG3):c.108G>A (p.Trp36Ter) rs1846844070
NM_004281.4(BAG3):c.1153_1160del (p.Ser385fs) rs2134068940
NM_004281.4(BAG3):c.1161dup (p.Lys388fs) rs1554877765
NM_004281.4(BAG3):c.1240G>T (p.Glu414Ter) rs117749531
NM_004281.4(BAG3):c.1257del (p.Pro420fs)
NM_004281.4(BAG3):c.1257dup (p.Pro420fs) rs2134069115
NM_004281.4(BAG3):c.1267_1276del (p.Leu423fs) rs794728981
NM_004281.4(BAG3):c.1276del (p.Glu426fs)
NM_004281.4(BAG3):c.1292dup (p.Val432fs) rs886039182
NM_004281.4(BAG3):c.1296_1297inv (p.Gln433Ter)
NM_004281.4(BAG3):c.1326dup (p.Glu443Ter) rs2134069217
NM_004281.4(BAG3):c.1348A>T (p.Lys450Ter) rs765426544
NM_004281.4(BAG3):c.1353C>A (p.Tyr451Ter) rs2134069248
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys) rs397516881
NM_004281.4(BAG3):c.1385T>C (p.Leu462Pro) rs397514507
NM_004281.4(BAG3):c.138_159del (p.Thr47fs)
NM_004281.4(BAG3):c.1408C>T (p.Pro470Ser) rs756020699
NM_004281.4(BAG3):c.1414G>T (p.Gly472Ter)
NM_004281.4(BAG3):c.1430G>A (p.Arg477His) rs387906876
NM_004281.4(BAG3):c.146G>A (p.Trp49Ter) rs1564767043
NM_004281.4(BAG3):c.147G>A (p.Trp49Ter)
NM_004281.4(BAG3):c.160del (p.Val54fs)
NM_004281.4(BAG3):c.165del (p.Ser56fs) rs2134050674
NM_004281.4(BAG3):c.206dup (p.Ser70fs) rs1554876984
NM_004281.4(BAG3):c.223del (p.Arg75fs)
NM_004281.4(BAG3):c.252_258dup (p.Pro87fs) rs1564773559
NM_004281.4(BAG3):c.258C>A (p.Tyr86Ter)
NM_004281.4(BAG3):c.258C>G (p.Tyr86Ter) rs1554876999
NM_004281.4(BAG3):c.262C>T (p.Gln88Ter) rs1554877001
NM_004281.4(BAG3):c.268C>T (p.Arg90Ter) rs1057517945
NM_004281.4(BAG3):c.277dup (p.Tyr93fs) rs1564773589
NM_004281.4(BAG3):c.280_284dup (p.Ile96fs)
NM_004281.4(BAG3):c.29_35del (p.Met10fs)
NM_004281.4(BAG3):c.329dup (p.His112fs) rs1344275862
NM_004281.4(BAG3):c.331_332del (p.Phe111fs) rs2134063372
NM_004281.4(BAG3):c.346C>T (p.Gln116Ter)
NM_004281.4(BAG3):c.351_352insTGGATGCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGAGGTCCCAGTCACCTCTGCGGGGCATGCCAGAAACCACTCAGCCAGATAAACAGCGTGGACAGGTGGCAGCGGCGGCGGCAGCCCAGCCCCCAGCCT (p.Gly118fs)
NM_004281.4(BAG3):c.358C>T (p.Gln120Ter)
NM_004281.4(BAG3):c.361C>T (p.Arg121Ter) rs2134063421
NM_004281.4(BAG3):c.36_40del (p.Ala13fs)
NM_004281.4(BAG3):c.38_39dup (p.Ser14fs) rs2134050486
NM_004281.4(BAG3):c.394C>T (p.Gln132Ter)
NM_004281.4(BAG3):c.403C>T (p.Gln135Ter) rs1847126002
NM_004281.4(BAG3):c.434_437del (p.Thr145fs)
NM_004281.4(BAG3):c.447dup (p.Gln150fs)
NM_004281.4(BAG3):c.448C>T (p.Gln150Ter)
NM_004281.4(BAG3):c.448_449del (p.Gln150fs)
NM_004281.4(BAG3):c.457C>T (p.Gln153Ter) rs1474660052
NM_004281.4(BAG3):c.481C>T (p.Gln161Ter) rs886039044
NM_004281.4(BAG3):c.488del (p.Pro163fs) rs1847128695
NM_004281.4(BAG3):c.514C>T (p.Gln172Ter) rs1589630001
NM_004281.4(BAG3):c.530_531del (p.Ala176_Ser177insTer) rs2134064943
NM_004281.4(BAG3):c.537C>A (p.Cys179Ter) rs1564774433
NM_004281.4(BAG3):c.598C>T (p.Gln200Ter) rs2134065052
NM_004281.4(BAG3):c.607dup (p.Arg203fs) rs1554877224
NM_004281.4(BAG3):c.612del (p.Tyr205fs) rs2134065084
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser) rs1589630141
NM_004281.4(BAG3):c.626C>A (p.Pro209Gln) rs121918312
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004281.4(BAG3):c.640C>T (p.Gln214Ter) rs2134065136
NM_004281.4(BAG3):c.652del (p.Arg218fs) rs1589630173
NM_004281.4(BAG3):c.654del (p.Pro219fs) rs2134065158
NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter) rs876661342
NM_004281.4(BAG3):c.709C>T (p.Gln237Ter) rs2134065221
NM_004281.4(BAG3):c.715G>T (p.Glu239Ter) rs148544471
NM_004281.4(BAG3):c.720C>G (p.Tyr240Ter)
NM_004281.4(BAG3):c.727dup (p.His243fs)
NM_004281.4(BAG3):c.72del (p.Gly25fs) rs727502897
NM_004281.4(BAG3):c.72dup (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.751del (p.Gln251fs) rs1847165958
NM_004281.4(BAG3):c.764G>A (p.Trp255Ter)
NM_004281.4(BAG3):c.765G>A (p.Trp255Ter) rs1564774668
NM_004281.4(BAG3):c.766G>T (p.Glu256Ter) rs2134065278
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_004281.4(BAG3):c.803C>A (p.Ser268Ter)
NM_004281.4(BAG3):c.811C>T (p.Gln271Ter) rs2134065350
NM_004281.4(BAG3):c.824del (p.Ser275fs) rs2134065363
NM_004281.4(BAG3):c.855_859dup (p.Leu287fs) rs1057518511
NM_004281.4(BAG3):c.889_890del (p.Thr297fs) rs1847169064
NM_004281.4(BAG3):c.907C>T (p.Gln303Ter)
NM_004281.4(BAG3):c.910C>T (p.Gln304Ter) rs2134068635
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) rs869248137
NM_004281.4(BAG3):c.946C>T (p.Gln316Ter) rs1847236072
NM_004281.4(BAG3):c.969_972del (p.Lys324fs) rs1589632398
NM_004281.4(BAG3):c.96_97del (p.Gln33fs)
NM_004281.4(BAG3):c.974del (p.Pro325fs) rs1847236575

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