ClinVar Miner

List of variants in gene BAG3 studied for Myofibrillar Myopathy, Dominant

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004281.4(BAG3):c.898G>A (p.Asp300Asn) rs78439745 0.00026
NM_004281.4(BAG3):c.1571T>C (p.Ile524Thr) rs752390475 0.00001
NM_004281.4(BAG3):c.564G>T (p.Leu188=) rs886046754 0.00001
NM_004281.4(BAG3):c.*240GTT[1] rs3981124
NM_004281.4(BAG3):c.*306_*307del rs796515184
NM_004281.4(BAG3):c.1298A>G (p.Gln433Arg) rs886046755
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727

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