ClinVar Miner

List of variants in gene BAG3 reported as benign for myofibrillar myopathy 6

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_004281.4(BAG3):c.1296A>G (p.Val432=) rs196295 0.75935
NM_004281.4(BAG3):c.910-21A>C rs196294 0.70836
NM_004281.4(BAG3):c.*218G>C rs8946 0.38461
NM_004281.4(BAG3):c.*535A>G rs11199065 0.19554
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962 0.14532
NM_004281.4(BAG3):c.1220C>T (p.Pro407Leu) rs3858340 0.12393
NM_004281.4(BAG3):c.1002T>G (p.Pro334=) rs3858339 0.12375
NM_004281.4(BAG3):c.-284G>C rs192502283 0.01069
NM_004281.4(BAG3):c.-271C>T rs144814361 0.00867
NM_004281.4(BAG3):c.*31C>T rs116329258 0.00853
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.463G>A (p.Ala155Thr) rs61756328 0.00239
NM_004281.4(BAG3):c.-17G>A rs200388926 0.00218
NM_004281.4(BAG3):c.25A>G (p.Met9Val) rs137965903 0.00175
NM_004281.4(BAG3):c.909+17G>A rs139086861 0.00153
NM_004281.4(BAG3):c.1587C>T (p.Ala529=) rs149358702 0.00144
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.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_004281.4(BAG3):c.870C>G (p.Pro290=) rs140737221 0.00055
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.381A>T (p.Ala127=) rs140594879 0.00030
NM_004281.4(BAG3):c.498C>T (p.His166=) rs111682654 0.00029
NM_004281.4(BAG3):c.898G>A (p.Asp300Asn) rs78439745 0.00026
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys) rs117749531 0.00024
NM_004281.4(BAG3):c.1588G>A (p.Val530Met) rs144678100 0.00016
NM_004281.4(BAG3):c.1634C>G (p.Pro545Arg) rs759348679 0.00014
NM_004281.4(BAG3):c.1029C>A (p.Arg343=) rs117972572 0.00013
NM_004281.4(BAG3):c.415C>T (p.Arg139Trp) rs556465096 0.00011
NM_004281.4(BAG3):c.400T>A (p.Ser134Thr) rs375257731 0.00006
NM_004281.4(BAG3):c.181-15C>T rs397516882 0.00004
NM_004281.4(BAG3):c.306C>T (p.Gly102=) rs202006167 0.00001
NM_004281.4(BAG3):c.*319C>T rs148967962
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.4(BAG3):c.467C>G (p.Ala156Gly) rs572038196
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004281.4(BAG3):c.873G>A (p.Ser291=)
NM_004281.4(BAG3):c.909+14_909+15dup
NM_004281.4(BAG3):c.910-16del

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