ClinVar Miner

List of variants in gene BAG3 reported as pathogenic for Dilated cardiomyopathy 1HH

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Total variants: 10
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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_000010.11:g.119674392_119683124del
NC_000010.11:g.119675031_119678711del
NM_004281.4(BAG3):c.1385T>C (p.Leu462Pro) rs397514507
NM_004281.4(BAG3):c.1430G>A (p.Arg477His) rs387906876
NM_004281.4(BAG3):c.607dup (p.Arg203fs) rs1554877224
NM_004281.4(BAG3):c.652del (p.Arg218fs) rs1589630173
NM_004281.4(BAG3):c.974del (p.Pro325fs) rs1847236575

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