ClinVar Miner

List of variants in gene RBFOX1 reported as uncertain significance for Idiopathic generalized epilepsy

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Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_145893.3(RBFOX1):c.32C>A (p.Pro11His) rs145351963 0.00018
NM_018723.4(RBFOX1):c.979G>A (p.Ala327Thr) rs139929599 0.00012
NM_018723.4(RBFOX1):c.52C>G (p.Pro18Ala) rs149974858 0.00010
NM_018723.4(RBFOX1):c.643G>C (p.Val215Leu) rs141994899 0.00009
NM_145893.3(RBFOX1):c.83T>C (p.Ile28Thr) rs147525462 0.00009
NM_018723.4(RBFOX1):c.130C>T (p.Pro44Ser) rs201490398 0.00004
NM_018723.4(RBFOX1):c.146C>T (p.Ala49Val) rs767917479 0.00004
NM_018723.4(RBFOX1):c.151G>A (p.Glu51Lys) rs778034989 0.00004
NM_018723.4(RBFOX1):c.239C>A (p.Thr80Lys) rs371393737 0.00004
NM_018723.4(RBFOX1):c.871C>G (p.Pro291Ala) rs768195911 0.00004
NM_018723.4(RBFOX1):c.886G>A (p.Gly296Ser) rs759654438 0.00004
NM_018723.4(RBFOX1):c.955G>A (p.Ala319Thr) rs199644500 0.00004
NM_145893.3(RBFOX1):c.62C>T (p.Ala21Val) rs375723096 0.00004
NM_145893.3(RBFOX1):c.59C>T (p.Ala20Val) rs201242998 0.00003
NM_145893.3(RBFOX1):c.64C>G (p.Pro22Ala) rs760925781 0.00003
NM_018723.4(RBFOX1):c.888C>T (p.Gly296=) rs921443679 0.00002
NM_145893.3(RBFOX1):c.84T>G (p.Ile28Met) rs766344856 0.00002
NM_018723.4(RBFOX1):c.1132G>A (p.Val378Ile) rs369122393 0.00001
NM_018723.4(RBFOX1):c.163C>G (p.Gln55Glu) rs1567632409 0.00001
NM_018723.4(RBFOX1):c.191A>T (p.Asn64Ile) rs753108920 0.00001
NM_018723.4(RBFOX1):c.200C>G (p.Pro67Arg) rs1257361531 0.00001
NM_018723.4(RBFOX1):c.212C>A (p.Thr71Lys) rs781081302 0.00001
NM_018723.4(RBFOX1):c.217T>G (p.Ser73Ala) rs769785213 0.00001
NM_018723.4(RBFOX1):c.244G>A (p.Ala82Thr) rs758714800 0.00001
NM_018723.4(RBFOX1):c.43G>A (p.Ala15Thr) rs1013691536 0.00001
NM_018723.4(RBFOX1):c.46G>A (p.Ala16Thr) rs779321097 0.00001
NM_018723.4(RBFOX1):c.500C>T (p.Ala167Val) rs773528139 0.00001
NM_018723.4(RBFOX1):c.538G>A (p.Val180Met) rs372761949 0.00001
NM_018723.4(RBFOX1):c.604G>A (p.Val202Ile) rs774774269 0.00001
NM_018723.4(RBFOX1):c.611C>T (p.Pro204Leu) rs1417087822 0.00001
NM_018723.4(RBFOX1):c.676+4C>T rs370887797 0.00001
NM_018723.4(RBFOX1):c.676+6G>C rs781701289 0.00001
NM_018723.4(RBFOX1):c.80C>T (p.Ser27Leu) rs527782263 0.00001
NM_018723.4(RBFOX1):c.943G>A (p.Ala315Thr) rs560607770 0.00001
NM_018723.4(RBFOX1):c.94C>G (p.Pro32Ala) rs1567630819 0.00001
NM_018723.4(RBFOX1):c.98C>A (p.Pro33Gln) rs750747492 0.00001
NM_145893.3(RBFOX1):c.35A>T (p.Tyr12Phe) rs759616730 0.00001
NM_145893.3(RBFOX1):c.55C>T (p.Pro19Ser) rs773668882 0.00001
NM_145893.3(RBFOX1):c.61G>T (p.Ala21Ser) rs1325337150 0.00001
NM_145893.3(RBFOX1):c.74C>T (p.Pro25Leu) rs998828744 0.00001
NM_145893.3(RBFOX1):c.977G>T (p.Gly326Val) rs767345247 0.00001
NM_145893.3(RBFOX1):c.983A>G (p.Lys328Arg) rs1287710352 0.00001
NC_000016.10:g.(?_7653795)_(7664988_?)del
NC_000016.9:g.(?_7102053)_(7760767_?)dup
NC_000016.9:g.(?_7382983)_(7647453_?)dup
NC_000016.9:g.(?_7383003)_(7568411_?)del
NC_000016.9:g.(?_7383003)_(7680705_?)del
NC_000016.9:g.(?_7383003)_(7680705_?)dup
NC_000016.9:g.(?_7383003)_(7760747_?)dup
NC_000016.9:g.(?_7568129)_(7760747_?)dup
NC_000016.9:g.(?_7629759)_(7760747_?)del
NC_000016.9:g.(?_7647353)_(7657360_?)del
NM_018723.4(RBFOX1):c.103A>G (p.Asn35Asp)
NM_018723.4(RBFOX1):c.104A>G (p.Asn35Ser)
NM_018723.4(RBFOX1):c.104_105delinsCG (p.Asn35Thr)
NM_018723.4(RBFOX1):c.1072-2A>G
NM_018723.4(RBFOX1):c.1084C>T (p.Pro362Ser)
NM_018723.4(RBFOX1):c.1089G>C (p.Leu363Phe) rs776822373
NM_018723.4(RBFOX1):c.109A>G (p.Ile37Val) rs781321986
NM_018723.4(RBFOX1):c.1101G>C (p.Lys367Asn)
NM_018723.4(RBFOX1):c.1151C>A (p.Ala384Asp)
NM_018723.4(RBFOX1):c.1162C>T (p.Arg388Ter) rs780406377
NM_018723.4(RBFOX1):c.1163G>A (p.Arg388Gln)
NM_018723.4(RBFOX1):c.124A>C (p.Thr42Pro)
NM_018723.4(RBFOX1):c.124A>G (p.Thr42Ala)
NM_018723.4(RBFOX1):c.125C>G (p.Thr42Arg) rs146499343
NM_018723.4(RBFOX1):c.127G>T (p.Ala43Ser)
NM_018723.4(RBFOX1):c.137C>T (p.Pro46Leu) rs113298071
NM_018723.4(RBFOX1):c.158C>G (p.Thr53Arg) rs1600686165
NM_018723.4(RBFOX1):c.166A>G (p.Thr56Ala)
NM_018723.4(RBFOX1):c.182A>C (p.His61Pro) rs1037124321
NM_018723.4(RBFOX1):c.185C>T (p.Thr62Ile)
NM_018723.4(RBFOX1):c.196T>C (p.Tyr66His) rs1600687118
NM_018723.4(RBFOX1):c.199C>T (p.Pro67Ser) rs143573994
NM_018723.4(RBFOX1):c.205G>A (p.Ala69Thr)
NM_018723.4(RBFOX1):c.206C>G (p.Ala69Gly)
NM_018723.4(RBFOX1):c.210G>T (p.Gln70His) rs2076811567
NM_018723.4(RBFOX1):c.224A>C (p.Gln75Pro) rs2152189230
NM_018723.4(RBFOX1):c.230C>T (p.Pro77Leu)
NM_018723.4(RBFOX1):c.232G>T (p.Ala78Ser)
NM_018723.4(RBFOX1):c.233C>G (p.Ala78Gly) rs761205127
NM_018723.4(RBFOX1):c.235G>C (p.Asp79His) rs764702003
NM_018723.4(RBFOX1):c.238A>G (p.Thr80Ala)
NM_018723.4(RBFOX1):c.245C>T (p.Ala82Val) rs780839692
NM_018723.4(RBFOX1):c.257C>G (p.Ser86Cys) rs2152190628
NM_018723.4(RBFOX1):c.257C>T (p.Ser86Phe)
NM_018723.4(RBFOX1):c.265G>A (p.Ala89Thr)
NM_018723.4(RBFOX1):c.270+5G>T rs2076823058
NM_018723.4(RBFOX1):c.28-3C>T rs2076775196
NM_018723.4(RBFOX1):c.30_37del (p.Asn11fs)
NM_018723.4(RBFOX1):c.424A>G (p.Lys142Glu)
NM_018723.4(RBFOX1):c.427A>G (p.Ile143Val)
NM_018723.4(RBFOX1):c.460G>C (p.Gly154Arg) rs2094181320
NM_018723.4(RBFOX1):c.469G>A (p.Gly157Arg)
NM_018723.4(RBFOX1):c.47C>T (p.Ala16Val) rs750798420
NM_018723.4(RBFOX1):c.481G>A (p.Val161Ile)
NM_018723.4(RBFOX1):c.490G>T (p.Glu164Ter) rs2094642630
NM_018723.4(RBFOX1):c.499G>A (p.Ala167Thr) rs2094642843
NM_018723.4(RBFOX1):c.522G>C (p.Glu174Asp) rs760159651
NM_018723.4(RBFOX1):c.55G>A (p.Asp19Asn)
NM_018723.4(RBFOX1):c.584T>C (p.Val195Ala) rs2152958287
NM_018723.4(RBFOX1):c.588G>C (p.Met196Ile)
NM_018723.4(RBFOX1):c.594_597del (p.Asn198fs) rs2094760665
NM_018723.4(RBFOX1):c.597A>C (p.Lys199Asn) rs2152958333
NM_018723.4(RBFOX1):c.610C>G (p.Pro204Ala) rs1360100229
NM_018723.4(RBFOX1):c.613dup (p.Tyr205fs)
NM_018723.4(RBFOX1):c.622+3_622+4del
NM_018723.4(RBFOX1):c.622+4A>G
NM_018723.4(RBFOX1):c.622+5G>T
NM_018723.4(RBFOX1):c.629A>G (p.Lys210Arg) rs2095316869
NM_018723.4(RBFOX1):c.640G>A (p.Val214Ile) rs372085042
NM_018723.4(RBFOX1):c.676+1G>T rs2141262938
NM_018723.4(RBFOX1):c.676+4_676+5del
NM_018723.4(RBFOX1):c.677-9C>G
NM_018723.4(RBFOX1):c.680C>T (p.Thr227Met) rs145006582
NM_018723.4(RBFOX1):c.724A>G (p.Ser242Gly)
NM_018723.4(RBFOX1):c.728C>G (p.Ala243Gly)
NM_018723.4(RBFOX1):c.742G>C (p.Val248Leu) rs757319815
NM_018723.4(RBFOX1):c.757+6C>A rs1435955739
NM_018723.4(RBFOX1):c.770C>G (p.Pro257Arg)
NM_018723.4(RBFOX1):c.787G>A (p.Ala263Thr)
NM_018723.4(RBFOX1):c.790G>A (p.Ala264Thr)
NM_018723.4(RBFOX1):c.823C>T (p.Arg275Cys)
NM_018723.4(RBFOX1):c.828_859del (p.Arg277fs) rs2144810454
NM_018723.4(RBFOX1):c.829C>T (p.Arg277Cys) rs1189994954
NM_018723.4(RBFOX1):c.833C>T (p.Thr278Ile) rs2065679298
NM_018723.4(RBFOX1):c.835G>A (p.Val279Met)
NM_018723.4(RBFOX1):c.839A>G (p.Tyr280Cys) rs2144812486
NM_018723.4(RBFOX1):c.853G>A (p.Ala285Thr) rs544967209
NM_018723.4(RBFOX1):c.853G>T (p.Ala285Ser)
NM_018723.4(RBFOX1):c.866C>T (p.Pro289Leu)
NM_018723.4(RBFOX1):c.871C>T (p.Pro291Ser) rs768195911
NM_018723.4(RBFOX1):c.872C>T (p.Pro291Leu)
NM_018723.4(RBFOX1):c.876C>G (p.Ile292Met) rs997305923
NM_018723.4(RBFOX1):c.878C>A (p.Pro293Gln) rs1157311700
NM_018723.4(RBFOX1):c.92C>A (p.Ala31Asp) rs761469568
NM_018723.4(RBFOX1):c.931-20_931-19inv
NM_018723.4(RBFOX1):c.931-3T>C rs1597853857
NM_018723.4(RBFOX1):c.931-5170G>A rs763604762
NM_018723.4(RBFOX1):c.931-5226T>A rs768777551
NM_018723.4(RBFOX1):c.934G>T (p.Gly312Cys) rs2073403458
NM_018723.4(RBFOX1):c.940G>A (p.Ala314Thr)
NM_018723.4(RBFOX1):c.944C>T (p.Ala315Val)
NM_018723.4(RBFOX1):c.948C>G (p.Tyr316Ter)
NM_018723.4(RBFOX1):c.949C>T (p.Arg317Cys) rs2146426013
NM_018723.4(RBFOX1):c.954C>G (p.Tyr318Ter)
NM_018723.4(RBFOX1):c.955G>T (p.Ala319Ser) rs199644500
NM_018723.4(RBFOX1):c.964_969del (p.Thr322_Pro323del) rs2146427156
NM_018723.4(RBFOX1):c.973A>G (p.Thr325Ala)
NM_018723.4(RBFOX1):c.979_984del (p.Ala327_Ala328del) rs974157467
NM_018723.4(RBFOX1):c.988A>G (p.Ser330Gly)
NM_018723.4(RBFOX1):c.995+2T>A rs1597855236
NM_145893.3(RBFOX1):c.22C>G (p.Leu8Val) rs1389613810
NM_145893.3(RBFOX1):c.35A>G (p.Tyr12Cys)
NM_145893.3(RBFOX1):c.38G>T (p.Gly13Val)
NM_145893.3(RBFOX1):c.46A>G (p.Met16Val) rs779418628
NM_145893.3(RBFOX1):c.4C>G (p.Leu2Val) rs1196867548
NM_145893.3(RBFOX1):c.56C>G (p.Pro19Arg) rs376061440
NM_145893.3(RBFOX1):c.56C>T (p.Pro19Leu) rs376061440
NM_145893.3(RBFOX1):c.68A>G (p.Tyr23Cys) rs1603623680
NM_145893.3(RBFOX1):c.69C>A (p.Tyr23Ter) rs1378405539
NM_145893.3(RBFOX1):c.70C>G (p.Leu24Val) rs765010942
NM_145893.3(RBFOX1):c.76G>A (p.Gly26Arg)
NM_145893.3(RBFOX1):c.76G>T (p.Gly26Ter) rs1180011308
NM_145893.3(RBFOX1):c.85C>T (p.Gln29Ter) rs754561652
NM_145893.3(RBFOX1):c.86A>G (p.Gln29Arg)
NM_145893.3(RBFOX1):c.87+2T>C rs1240585365
NM_145893.3(RBFOX1):c.953_962del (p.Val318fs)
NM_145893.3(RBFOX1):c.970G>C (p.Val324Leu)
NM_145893.3(RBFOX1):c.989T>G (p.Leu330Arg)
NM_145893.3(RBFOX1):c.993+1G>A rs760593868

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