ClinVar Miner

List of variants in gene BAG3 reported as uncertain significance for Myofibrillar myopathy 6

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_004281.4(BAG3):c.-294A>C rs544280047 0.00385
NM_004281.4(BAG3):c.-293T>A rs557535632 0.00284
NM_004281.4(BAG3):c.-95G>A rs111750619 0.00218
NM_004281.4(BAG3):c.*402T>C rs541591765 0.00068
NM_004281.4(BAG3):c.-86G>A rs913687992 0.00031
NM_004281.4(BAG3):c.*399G>T rs774188346 0.00019
NM_004281.4(BAG3):c.-128G>T rs543269835 0.00008
NM_004281.4(BAG3):c.-285C>A rs866276705 0.00006
NM_004281.4(BAG3):c.487C>T (p.Pro163Ser) rs746956979 0.00006
NM_004281.4(BAG3):c.*199A>C rs950081061 0.00003
NM_004281.4(BAG3):c.-155C>G rs963964101 0.00002
NM_004281.4(BAG3):c.1429C>T (p.Arg477Cys) rs775645671 0.00001
NM_004281.4(BAG3):c.343C>T (p.Pro115Ser) rs774241343 0.00001
NM_004281.4(BAG3):c.465A>G (p.Ala155=) rs775151738 0.00001
NM_004281.4(BAG3):c.836C>T (p.Ser279Leu) rs751261054 0.00001
NM_004281.4(BAG3):c.*455G>A rs978995119
NM_004281.4(BAG3):c.*469A>G rs1847262118
NM_004281.4(BAG3):c.-285C>T rs866276705
NM_004281.4(BAG3):c.-319C>T rs987450541
NM_004281.4(BAG3):c.-87G>T rs879223257
NM_004281.4(BAG3):c.1503C>T (p.Val501=) rs147277075
NM_004281.4(BAG3):c.1667C>A (p.Ala556Glu) rs886046756
NM_004281.4(BAG3):c.574G>T (p.Gly192Cys) rs201487919
NM_004281.4(BAG3):c.625C>G (p.Pro209Ala) rs1589630141
NM_004281.4(BAG3):c.637G>A (p.Glu213Lys) rs1311591078
NM_004281.4(BAG3):c.7G>T (p.Ala3Ser) rs956429406

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