ClinVar Miner

List of variants in gene BAG3 reported as pathogenic by GeneDx

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Total variants: 11
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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.1267_1276del (p.Leu423fs) rs794728981
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys) rs397516881
NM_004281.4(BAG3):c.206dup (p.Ser70fs) rs1554876984
NM_004281.4(BAG3):c.258C>A (p.Tyr86Ter)
NM_004281.4(BAG3):c.268C>T (p.Arg90Ter) rs1057517945
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu) rs121918312
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.77G>A (p.Trp26Ter) rs1554875409
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) rs869248137

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