ClinVar Miner

List of variants in gene BAG3 studied for Cardiomyopathy

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_004281.4(BAG3):c.249C>A (p.His83Gln) rs151331972 0.00344
NM_004281.4(BAG3):c.187C>G (p.Pro63Ala) rs144041999 0.00328
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser) rs144692954 0.00327
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr) rs61756328 0.00239
NM_004281.4(BAG3):c.549C>G (p.Ser183=) rs112929734 0.00141
NM_004281.4(BAG3):c.1503C>A (p.Val501=) rs147277075 0.00089
NM_004281.4(BAG3):c.855G>A (p.Thr285=) rs147259596 0.00048
NM_004281.4(BAG3):c.888C>T (p.His296=) rs139399890 0.00040
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123 0.00036
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu) rs141355480 0.00033
NM_004281.4(BAG3):c.645C>T (p.Asn215=) rs138078305 0.00025
NM_004281.4(BAG3):c.1029C>A (p.Arg343=) rs117972572 0.00013
NM_004281.4(BAG3):c.432C>A (p.Thr144=) rs144928892 0.00008
NM_004281.4(BAG3):c.1214C>T (p.Ala405Val) rs11199064 0.00006
NM_004281.4(BAG3):c.487C>T (p.Pro163Ser) rs746956979 0.00006
NM_004281.4(BAG3):c.1096G>C (p.Val366Leu) rs1215731985 0.00002
NM_004281.4(BAG3):c.1429C>T (p.Arg477Cys) rs775645671 0.00001
NM_004281.4(BAG3):c.1447G>A (p.Gly483Ser) rs570294713 0.00001
NM_004281.4(BAG3):c.465A>G (p.Ala155=) rs775151738 0.00001
NM_004281.4(BAG3):c.67C>T (p.Pro23Ser) rs747846089 0.00001
NM_004281.4(BAG3):c.1259C>T (p.Pro420Leu) rs1303615373
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727

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