ClinVar Miner

List of variants in gene BAG3 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_004281.4(BAG3):c.231G>A (p.Pro77=) rs143752613 0.00441
NM_004281.4(BAG3):c.249C>A (p.His83Gln) rs151331972 0.00344
NM_004281.4(BAG3):c.606G>T (p.Pro202=) rs74157690 0.00341
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.181-9T>A rs139232658 0.00317
NM_004281.4(BAG3):c.-17G>A rs200388926 0.00218
NM_004281.4(BAG3):c.549C>G (p.Ser183=) rs112929734 0.00141
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val) rs34656239 0.00097
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_004281.4(BAG3):c.230C>T (p.Pro77Leu) rs141355480 0.00033
NM_004281.4(BAG3):c.771C>T (p.Pro257=) rs200212999 0.00028
NM_004281.4(BAG3):c.898G>A (p.Asp300Asn) rs78439745 0.00026
NM_004281.4(BAG3):c.96G>T (p.Pro32=) rs372083121 0.00017
NM_004281.4(BAG3):c.1588G>A (p.Val530Met) rs144678100 0.00016
NM_004281.4(BAG3):c.1029C>A (p.Arg343=) rs117972572 0.00013
NM_004281.4(BAG3):c.693G>A (p.Thr231=) rs144034433 0.00006
NM_004281.4(BAG3):c.1651C>A (p.Gln551Lys) rs577455773 0.00001
NM_004281.4(BAG3):c.452G>A (p.Cys151Tyr) rs770678896 0.00001
NM_004281.4(BAG3):c.1126C>T (p.Pro376Ser) rs1180366101
NM_004281.4(BAG3):c.1663_1666dup (p.Ala556fs) rs1273311196

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