ClinVar Miner

List of variants in gene RBFOX1 studied for genetic generalized epilepsy

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 382
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HGVS dbSNP gnomAD frequency
NM_018723.4(RBFOX1):c.-64+166491C>A rs7187508 0.62707
NM_018723.4(RBFOX1):c.931-19A>G rs2302213 0.10758
NM_018723.4(RBFOX1):c.126G>A (p.Thr42=) rs17143930 0.03708
NM_018723.4(RBFOX1):c.137C>A (p.Pro46His) rs113298071 0.00341
NM_018723.4(RBFOX1):c.175C>T (p.Pro59Ser) rs137880529 0.00137
NM_018723.4(RBFOX1):c.677-5C>T rs147023054 0.00077
NM_018723.4(RBFOX1):c.142C>T (p.Pro48Ser) rs151214012 0.00070
NM_018723.4(RBFOX1):c.96C>G (p.Pro32=) rs143695164 0.00052
NM_018723.4(RBFOX1):c.270+10C>G rs113881725 0.00051
NM_018723.4(RBFOX1):c.264C>T (p.Thr88=) rs202136920 0.00038
NM_145893.3(RBFOX1):c.11C>G (p.Ser4Cys) rs147306562 0.00029
NM_018723.4(RBFOX1):c.144C>T (p.Pro48=) rs61742359 0.00027
NM_018723.4(RBFOX1):c.70C>T (p.Pro24Ser) rs148751394 0.00026
NM_018723.4(RBFOX1):c.969T>G (p.Pro323=) rs1416883490 0.00024
NM_145893.3(RBFOX1):c.32C>A (p.Pro11His) rs145351963 0.00018
NM_018723.4(RBFOX1):c.867G>T (p.Pro289=) rs745729142 0.00016
NM_145893.3(RBFOX1):c.57G>A (p.Pro19=) rs147261087 0.00016
NM_145893.3(RBFOX1):c.51T>C (p.Ile17=) rs781023213 0.00013
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.795C>T (p.Ala265=) rs376576588 0.00010
NM_018723.4(RBFOX1):c.890+17C>T rs1285678739 0.00010
NM_018723.4(RBFOX1):c.643G>C (p.Val215Leu) rs141994899 0.00009
NM_018723.4(RBFOX1):c.708G>A (p.Glu236=) rs368113568 0.00009
NM_018723.4(RBFOX1):c.753T>C (p.Ser251=) rs372725346 0.00009
NM_145893.3(RBFOX1):c.83T>C (p.Ile28Thr) rs147525462 0.00009
NM_018723.4(RBFOX1):c.931-5157G>C rs375075227 0.00008
NM_018723.4(RBFOX1):c.757+15G>A rs200892489 0.00007
NM_018723.4(RBFOX1):c.615T>C (p.Tyr205=) rs764254377 0.00006
NM_145893.3(RBFOX1):c.9G>A (p.Ala3=) rs771567004 0.00006
NM_018723.4(RBFOX1):c.28-185047C>T rs371603385 0.00005
NM_018723.4(RBFOX1):c.885C>T (p.Tyr295=) rs774530398 0.00005
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.220G>C (p.Glu74Gln) rs748804086 0.00004
NM_018723.4(RBFOX1):c.239C>A (p.Thr80Lys) rs371393737 0.00004
NM_018723.4(RBFOX1):c.603C>T (p.Thr201=) rs772611871 0.00004
NM_018723.4(RBFOX1):c.789C>T (p.Ala263=) rs577598050 0.00004
NM_018723.4(RBFOX1):c.871C>G (p.Pro291Ala) rs768195911 0.00004
NM_018723.4(RBFOX1):c.873G>A (p.Pro291=) rs761510301 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.36T>C (p.Tyr12=) rs767727470 0.00004
NM_145893.3(RBFOX1):c.62C>T (p.Ala21Val) rs375723096 0.00004
NM_018723.4(RBFOX1):c.562-12C>T rs771443037 0.00003
NM_018723.4(RBFOX1):c.677-4G>A rs759738790 0.00003
NM_018723.4(RBFOX1):c.831C>T (p.Arg277=) rs765683149 0.00003
NM_018723.4(RBFOX1):c.954C>T (p.Tyr318=) rs182244522 0.00003
NM_145893.3(RBFOX1):c.59C>T (p.Ala20Val) rs201242998 0.00003
NM_145893.3(RBFOX1):c.63T>G (p.Ala21=) rs775667685 0.00003
NM_145893.3(RBFOX1):c.64C>G (p.Pro22Ala) rs760925781 0.00003
NM_145893.3(RBFOX1):c.987G>A (p.Leu329=) rs1217033932 0.00003
NM_018723.4(RBFOX1):c.189A>G (p.Leu63=) rs767972090 0.00002
NM_018723.4(RBFOX1):c.231G>A (p.Pro77=) rs775977215 0.00002
NM_018723.4(RBFOX1):c.270+7G>T rs778547505 0.00002
NM_018723.4(RBFOX1):c.28-13T>C rs200813556 0.00002
NM_018723.4(RBFOX1):c.676+12C>G rs748651106 0.00002
NM_018723.4(RBFOX1):c.792G>A (p.Ala264=) rs745880431 0.00002
NM_018723.4(RBFOX1):c.888C>T (p.Gly296=) rs921443679 0.00002
NM_018723.4(RBFOX1):c.931-9G>C rs200198767 0.00002
NM_018723.4(RBFOX1):c.995+9C>T rs749403774 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.138C>T (p.Pro46=) rs1315127050 0.00001
NM_018723.4(RBFOX1):c.163C>G (p.Gln55Glu) rs1567632409 0.00001
NM_018723.4(RBFOX1):c.177C>T (p.Pro59=) rs1304807131 0.00001
NM_018723.4(RBFOX1):c.186A>G (p.Thr62=) rs759837636 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.243C>T (p.Ser81=) rs1268768787 0.00001
NM_018723.4(RBFOX1):c.244G>A (p.Ala82Thr) rs758714800 0.00001
NM_018723.4(RBFOX1):c.415-12A>G rs751611395 0.00001
NM_018723.4(RBFOX1):c.43G>A (p.Ala15Thr) rs1013691536 0.00001
NM_018723.4(RBFOX1):c.469-13C>T rs1378738998 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.562-20T>G rs1355901802 0.00001
NM_018723.4(RBFOX1):c.562-5C>T rs751374056 0.00001
NM_018723.4(RBFOX1):c.576A>T (p.Thr192=) rs769265490 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.717C>T (p.Ser239=) rs201549920 0.00001
NM_018723.4(RBFOX1):c.747T>C (p.Tyr249=) rs779034823 0.00001
NM_018723.4(RBFOX1):c.757+14C>T rs776439789 0.00001
NM_018723.4(RBFOX1):c.757+7C>T rs958684686 0.00001
NM_018723.4(RBFOX1):c.771G>A (p.Pro257=) rs916986800 0.00001
NM_018723.4(RBFOX1):c.801C>T (p.Tyr267=) rs747421844 0.00001
NM_018723.4(RBFOX1):c.802C>A (p.Arg268=) rs890155302 0.00001
NM_018723.4(RBFOX1):c.80C>T (p.Ser27Leu) rs527782263 0.00001
NM_018723.4(RBFOX1):c.931-5159T>C rs780351349 0.00001
NM_018723.4(RBFOX1):c.931-5224C>T rs776577408 0.00001
NM_018723.4(RBFOX1):c.931-6T>C rs1352822587 0.00001
NM_018723.4(RBFOX1):c.939T>C (p.Tyr313=) rs1022794718 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_018723.4(RBFOX1):c.995+19G>C rs200394869 0.00001
NM_145893.3(RBFOX1):c.25C>T (p.Leu9=) rs1347157111 0.00001
NM_145893.3(RBFOX1):c.35A>T (p.Tyr12Phe) rs759616730 0.00001
NM_145893.3(RBFOX1):c.39C>T (p.Gly13=) rs757066841 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)_(7703969_?)dup
NC_000016.9:g.(?_7383003)_(7760747_?)dup
NC_000016.9:g.(?_7568129)_(7760747_?)dup
NC_000016.9:g.(?_7629759)_(7637322_?)dup
NC_000016.9:g.(?_7629759)_(7760747_?)del
NC_000016.9:g.(?_7647353)_(7657360_?)del
NC_000016.9:g.(?_7726832)_(7839608_?)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.105C>T (p.Asn35=)
NM_018723.4(RBFOX1):c.1072-2A>G
NM_018723.4(RBFOX1):c.1084C>T (p.Pro362Ser)
NM_018723.4(RBFOX1):c.1089G>A (p.Leu363=)
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.1146G>A (p.Leu382=) rs756984329
NM_018723.4(RBFOX1):c.114C>A (p.Pro38=) rs376877653
NM_018723.4(RBFOX1):c.114C>G (p.Pro38=) rs376877653
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.1178G>A (p.Arg393His)
NM_018723.4(RBFOX1):c.1194A>G (p.Ter398=) rs2148629483
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.129C>A (p.Ala43=)
NM_018723.4(RBFOX1):c.132T>A (p.Pro44=) rs1263847911
NM_018723.4(RBFOX1):c.137C>T (p.Pro46Leu) rs113298071
NM_018723.4(RBFOX1):c.144C>G (p.Pro48=)
NM_018723.4(RBFOX1):c.157A>G (p.Thr53Ala)
NM_018723.4(RBFOX1):c.158C>G (p.Thr53Arg) rs1600686165
NM_018723.4(RBFOX1):c.166A>G (p.Thr56Ala)
NM_018723.4(RBFOX1):c.167C>G (p.Thr56Ser)
NM_018723.4(RBFOX1):c.171G>A (p.Thr57=)
NM_018723.4(RBFOX1):c.176C>G (p.Pro59Arg)
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>G (p.Pro67Ala)
NM_018723.4(RBFOX1):c.199C>T (p.Pro67Ser) rs143573994
NM_018723.4(RBFOX1):c.201T>A (p.Pro67=) rs757485949
NM_018723.4(RBFOX1):c.204C>T (p.Pro68=)
NM_018723.4(RBFOX1):c.205G>A (p.Ala69Thr)
NM_018723.4(RBFOX1):c.206C>G (p.Ala69Gly)
NM_018723.4(RBFOX1):c.210G>A (p.Gln70=) rs2076811567
NM_018723.4(RBFOX1):c.210G>T (p.Gln70His) rs2076811567
NM_018723.4(RBFOX1):c.219C>A (p.Ser73=)
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.234G>A (p.Ala78=)
NM_018723.4(RBFOX1):c.235G>C (p.Asp79His) rs764702003
NM_018723.4(RBFOX1):c.238A>G (p.Thr80Ala)
NM_018723.4(RBFOX1):c.240G>A (p.Thr80=)
NM_018723.4(RBFOX1):c.245C>T (p.Ala82Val) rs780839692
NM_018723.4(RBFOX1):c.252C>A (p.Thr84=) rs752506752
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+10C>T rs113881725
NM_018723.4(RBFOX1):c.270+11G>A
NM_018723.4(RBFOX1):c.270+11G>T rs371402357
NM_018723.4(RBFOX1):c.270+19_270+22dup
NM_018723.4(RBFOX1):c.270+20A>G
NM_018723.4(RBFOX1):c.270+2dup
NM_018723.4(RBFOX1):c.270+5G>T rs2076823058
NM_018723.4(RBFOX1):c.270+8G>A
NM_018723.4(RBFOX1):c.28-10G>T
NM_018723.4(RBFOX1):c.28-11del
NM_018723.4(RBFOX1):c.28-185041C>A
NM_018723.4(RBFOX1):c.28-185041C>T
NM_018723.4(RBFOX1):c.28-185043T>C
NM_018723.4(RBFOX1):c.28-185043_28-185040del rs767678711
NM_018723.4(RBFOX1):c.28-185044C>G
NM_018723.4(RBFOX1):c.28-185051A>T
NM_018723.4(RBFOX1):c.28-185054T>C
NM_018723.4(RBFOX1):c.28-20G>T
NM_018723.4(RBFOX1):c.28-3C>T rs2076775196
NM_018723.4(RBFOX1):c.30_37del (p.Asn11fs)
NM_018723.4(RBFOX1):c.415-14C>A rs766827645
NM_018723.4(RBFOX1):c.415-14C>T rs766827645
NM_018723.4(RBFOX1):c.415-16T>C
NM_018723.4(RBFOX1):c.415-17T>C
NM_018723.4(RBFOX1):c.415-19T>C
NM_018723.4(RBFOX1):c.415-20A>G
NM_018723.4(RBFOX1):c.415-20A>T rs1327343028
NM_018723.4(RBFOX1):c.424A>G (p.Lys142Glu)
NM_018723.4(RBFOX1):c.427A>G (p.Ile143Val)
NM_018723.4(RBFOX1):c.456G>A (p.Glu152=) rs1478825837
NM_018723.4(RBFOX1):c.45C>T (p.Ala15=) rs1351528483
NM_018723.4(RBFOX1):c.460G>C (p.Gly154Arg) rs2094181320
NM_018723.4(RBFOX1):c.468+10_468+11del rs768579064
NM_018723.4(RBFOX1):c.468+18C>G
NM_018723.4(RBFOX1):c.469-17C>T rs2152948167
NM_018723.4(RBFOX1):c.469-8G>A rs763792559
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.501C>T (p.Ala167=)
NM_018723.4(RBFOX1):c.507G>C (p.Ala169=) rs763250831
NM_018723.4(RBFOX1):c.51C>A (p.Ala17=) rs139265655
NM_018723.4(RBFOX1):c.522G>C (p.Glu174Asp) rs760159651
NM_018723.4(RBFOX1):c.531C>T (p.His177=) rs1193035983
NM_018723.4(RBFOX1):c.537C>G (p.Thr179=) rs756360831
NM_018723.4(RBFOX1):c.543A>G (p.Val181=) rs2152948676
NM_018723.4(RBFOX1):c.55G>A (p.Asp19Asn)
NM_018723.4(RBFOX1):c.562-15T>A
NM_018723.4(RBFOX1):c.562-17G>C
NM_018723.4(RBFOX1):c.562-8G>T rs1283928972
NM_018723.4(RBFOX1):c.562-9T>C rs1555648980
NM_018723.4(RBFOX1):c.573C>T (p.Ala191=)
NM_018723.4(RBFOX1):c.583G>C (p.Val195Leu)
NM_018723.4(RBFOX1):c.584T>C (p.Val195Ala) rs2152958287
NM_018723.4(RBFOX1):c.585A>T (p.Val195=) rs368983711
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.60A>G (p.Thr20=)
NM_018723.4(RBFOX1):c.610C>A (p.Pro204Thr)
NM_018723.4(RBFOX1):c.610C>G (p.Pro204Ala) rs1360100229
NM_018723.4(RBFOX1):c.613dup (p.Tyr205fs)
NM_018723.4(RBFOX1):c.618A>G (p.Thr206=)
NM_018723.4(RBFOX1):c.622+10G>A
NM_018723.4(RBFOX1):c.622+11A>T
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.623-16G>T
NM_018723.4(RBFOX1):c.629A>G (p.Lys210Arg) rs2095316869
NM_018723.4(RBFOX1):c.639A>G (p.Pro213=) rs1389267525
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.676+7_676+8del
NM_018723.4(RBFOX1):c.677-13C>T rs777768764
NM_018723.4(RBFOX1):c.677-20TC[5]
NM_018723.4(RBFOX1):c.677-4G>T rs759738790
NM_018723.4(RBFOX1):c.677-8T>G
NM_018723.4(RBFOX1):c.677-9C>G
NM_018723.4(RBFOX1):c.680C>T (p.Thr227Met) rs145006582
NM_018723.4(RBFOX1):c.687G>A (p.Leu229=) rs2060799020
NM_018723.4(RBFOX1):c.718A>C (p.Met240Leu)
NM_018723.4(RBFOX1):c.724A>G (p.Ser242Gly)
NM_018723.4(RBFOX1):c.728C>G (p.Ala243Gly)
NM_018723.4(RBFOX1):c.72T>A (p.Pro24=) rs1555542676
NM_018723.4(RBFOX1):c.742G>C (p.Val248Leu) rs757319815
NM_018723.4(RBFOX1):c.757+14C>G
NM_018723.4(RBFOX1):c.757+19C>G
NM_018723.4(RBFOX1):c.757+6C>A rs1435955739
NM_018723.4(RBFOX1):c.758-10T>C rs2144803234
NM_018723.4(RBFOX1):c.758-12C>G
NM_018723.4(RBFOX1):c.758-14_758-10del rs2144802781
NM_018723.4(RBFOX1):c.758-15_758-14insTCCC
NM_018723.4(RBFOX1):c.758-18_758-17insGT
NM_018723.4(RBFOX1):c.758-19_758-18insGC rs772354139
NM_018723.4(RBFOX1):c.758-4G>A rs112339093
NM_018723.4(RBFOX1):c.758-4G>T rs112339093
NM_018723.4(RBFOX1):c.758-5C>G
NM_018723.4(RBFOX1):c.758-5C>T rs368263619
NM_018723.4(RBFOX1):c.758-5_758-4delinsTT rs1060504699
NM_018723.4(RBFOX1):c.758-6C>T
NM_018723.4(RBFOX1):c.758-9G>T rs2065660205
NM_018723.4(RBFOX1):c.76G>C (p.Ala26Pro)
NM_018723.4(RBFOX1):c.770C>G (p.Pro257Arg)
NM_018723.4(RBFOX1):c.786C>G (p.Thr262=) rs755253534
NM_018723.4(RBFOX1):c.786C>T (p.Thr262=)
NM_018723.4(RBFOX1):c.787G>A (p.Ala263Thr)
NM_018723.4(RBFOX1):c.790G>A (p.Ala264Thr)
NM_018723.4(RBFOX1):c.804A>T (p.Arg268=)
NM_018723.4(RBFOX1):c.810G>A (p.Ala270=)
NM_018723.4(RBFOX1):c.816G>A (p.Leu272=)
NM_018723.4(RBFOX1):c.819A>T (p.Arg273=)
NM_018723.4(RBFOX1):c.822C>T (p.Gly274=)
NM_018723.4(RBFOX1):c.823C>T (p.Arg275Cys)
NM_018723.4(RBFOX1):c.825C>T (p.Arg275=)
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.855C>T (p.Ala285=)
NM_018723.4(RBFOX1):c.858G>A (p.Ala286=) rs1060504700
NM_018723.4(RBFOX1):c.866C>T (p.Pro289Leu)
NM_018723.4(RBFOX1):c.867G>A (p.Pro289=)
NM_018723.4(RBFOX1):c.868C>A (p.Pro290Thr)
NM_018723.4(RBFOX1):c.870C>T (p.Pro290=)
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.876C>T (p.Ile292=)
NM_018723.4(RBFOX1):c.878C>A (p.Pro293Gln) rs1157311700
NM_018723.4(RBFOX1):c.879G>A (p.Pro293=) rs200006523
NM_018723.4(RBFOX1):c.879G>C (p.Pro293=) rs200006523
NM_018723.4(RBFOX1):c.87G>A (p.Gln29=)
NM_018723.4(RBFOX1):c.890+15C>G
NM_018723.4(RBFOX1):c.890+15C>T
NM_018723.4(RBFOX1):c.890+20G>T
NM_018723.4(RBFOX1):c.890+8G>C
NM_018723.4(RBFOX1):c.92C>A (p.Ala31Asp) rs761469568
NM_018723.4(RBFOX1):c.931-12C>T
NM_018723.4(RBFOX1):c.931-18T>C
NM_018723.4(RBFOX1):c.931-20_931-19inv
NM_018723.4(RBFOX1):c.931-3T>C rs1597853857
NM_018723.4(RBFOX1):c.931-5160C>A
NM_018723.4(RBFOX1):c.931-5161A>G rs750150151
NM_018723.4(RBFOX1):c.931-5163C>G rs756935023
NM_018723.4(RBFOX1):c.931-5170G>A rs763604762
NM_018723.4(RBFOX1):c.931-5221A>G
NM_018723.4(RBFOX1):c.931-5226T>A rs768777551
NM_018723.4(RBFOX1):c.931-5226T>G
NM_018723.4(RBFOX1):c.931-8T>C
NM_018723.4(RBFOX1):c.933T>C (p.Gly311=)
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.978C>A (p.Ala326=) rs146803665
NM_018723.4(RBFOX1):c.978C>T (p.Ala326=) rs146803665
NM_018723.4(RBFOX1):c.979_984del (p.Ala327_Ala328del) rs974157467
NM_018723.4(RBFOX1):c.984C>T (p.Ala328=) rs1312874997
NM_018723.4(RBFOX1):c.988A>G (p.Ser330Gly)
NM_018723.4(RBFOX1):c.995+16C>T
NM_018723.4(RBFOX1):c.995+2T>A rs1597855236
NM_018723.4(RBFOX1):c.99G>A (p.Pro33=)
NM_145893.3(RBFOX1):c.18A>T (p.Gly6=)
NM_145893.3(RBFOX1):c.22C>G (p.Leu8Val) rs1389613810
NM_145893.3(RBFOX1):c.24C>T (p.Leu8=) rs1159971428
NM_145893.3(RBFOX1):c.35A>G (p.Tyr12Cys)
NM_145893.3(RBFOX1):c.38G>T (p.Gly13Val)
NM_145893.3(RBFOX1):c.40G>A (p.Val14Met)
NM_145893.3(RBFOX1):c.46A>G (p.Met16Val) rs779418628
NM_145893.3(RBFOX1):c.47T>A (p.Met16Lys)
NM_145893.3(RBFOX1):c.4C>G (p.Leu2Val) rs1196867548
NM_145893.3(RBFOX1):c.54A>G (p.Val18=) rs770264923
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.69C>T (p.Tyr23=) rs1378405539
NM_145893.3(RBFOX1):c.70C>G (p.Leu24Val) rs765010942
NM_145893.3(RBFOX1):c.75T>C (p.Pro25=) rs2144461588
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.957G>A (p.Val319=)
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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