ClinVar Miner

List of variants reported as likely benign for Idiopathic generalized epilepsy by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 544
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HGVS dbSNP gnomAD frequency
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg) rs200662010 0.00201
NM_018723.4(RBFOX1):c.1057G>A (p.Gly353Ser) rs145873257 0.00156
NM_018723.4(RBFOX1):c.175C>T (p.Pro59Ser) rs137880529 0.00137
NM_001350451.2(RBFOX3):c.63G>A (p.Glu21=) rs565537117 0.00122
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_001350451.2(RBFOX3):c.39G>A (p.Pro13=) rs940680437 0.00091
NM_000815.5(GABRD):c.658C>T (p.Arg220Cys) rs139300921 0.00080
NM_018723.4(RBFOX1):c.677-5C>T rs147023054 0.00077
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_018723.4(RBFOX1):c.142C>T (p.Pro48Ser) rs151214012 0.00070
NM_000815.5(GABRD):c.68+17C>G rs868634453 0.00063
NM_000815.5(GABRD):c.1060-7C>T rs368961588 0.00054
NM_001350451.2(RBFOX3):c.103G>A (p.Gly35Ser) rs375309858 0.00054
NM_000815.5(GABRD):c.577G>A (p.Val193Ile) rs143115257 0.00052
NM_001350451.2(RBFOX3):c.223-18C>T rs181329485 0.00049
NM_000815.5(GABRD):c.1150C>T (p.Pro384Ser) rs79386457 0.00048
NM_000815.5(GABRD):c.1060-8T>A rs76809996 0.00045
NM_000815.5(GABRD):c.775G>A (p.Val259Ile) rs148908731 0.00042
NM_001350451.2(RBFOX3):c.222+14C>T rs373727615 0.00040
NM_001350451.2(RBFOX3):c.19C>T (p.Pro7Ser) rs376060745 0.00038
NM_000815.5(GABRD):c.102C>T (p.Ser34=) rs140855313 0.00036
NM_000815.5(GABRD):c.1152G>A (p.Pro384=) rs77557135 0.00034
NM_001350451.2(RBFOX3):c.567C>T (p.Asn189=) rs369818738 0.00033
NM_001350451.2(RBFOX3):c.222+15G>A rs371537468 0.00032
NM_001350451.2(RBFOX3):c.271G>A (p.Asp91Asn) rs375940495 0.00032
NM_000815.5(GABRD):c.1113G>A (p.Thr371=) rs755961495 0.00029
NM_001350451.2(RBFOX3):c.548C>T (p.Thr183Met) rs542684395 0.00029
NM_001350451.2(RBFOX3):c.594C>T (p.Gly198=) rs371067982 0.00029
NM_145893.3(RBFOX1):c.11C>G (p.Ser4Cys) rs147306562 0.00029
NM_000726.5(CACNB4):c.54C>A (p.Pro18=) rs373222155 0.00026
NM_000815.5(GABRD):c.177C>T (p.Ile59=) rs779883280 0.00025
NM_001350451.2(RBFOX3):c.1077+17C>T rs752716524 0.00025
NM_000815.5(GABRD):c.969C>T (p.Ala323=) rs146381127 0.00024
NM_001350451.2(RBFOX3):c.347G>A (p.Arg116Gln) rs199891032 0.00024
NM_018723.4(RBFOX1):c.969T>G (p.Pro323=) rs1416883490 0.00024
NM_001350451.2(RBFOX3):c.622+19C>A rs578218089 0.00019
NM_001350451.2(RBFOX3):c.568+13G>T rs200580682 0.00018
NM_000815.5(GABRD):c.1344G>A (p.Ala448=) rs144369244 0.00017
NM_000815.5(GABRD):c.69-17T>G rs546154012 0.00017
NM_000815.5(GABRD):c.492C>T (p.Cys164=) rs367776284 0.00016
NM_000815.5(GABRD):c.691+14G>A rs200682047 0.00016
NM_001350451.2(RBFOX3):c.303A>G (p.Leu101=) rs768508558 0.00016
NM_001350451.2(RBFOX3):c.72G>A (p.Pro24=) rs776796401 0.00016
NM_001350451.2(RBFOX3):c.969C>T (p.Pro323=) rs570994105 0.00016
NM_018723.4(RBFOX1):c.867G>T (p.Pro289=) rs745729142 0.00016
NM_000815.5(GABRD):c.318C>T (p.Asn106=) rs149832567 0.00015
NM_000815.5(GABRD):c.68+10C>T rs994082959 0.00015
NM_001350451.2(RBFOX3):c.999-12G>A rs918641407 0.00015
NM_001350451.2(RBFOX3):c.970G>A (p.Ala324Thr) rs112978510 0.00014
NM_018723.4(RBFOX1):c.1023C>G (p.Pro341=) rs143601277 0.00014
NM_000815.5(GABRD):c.942C>T (p.Phe314=) rs139676179 0.00013
NM_001350451.2(RBFOX3):c.1029G>A (p.Pro343=) rs373093807 0.00013
NM_145893.3(RBFOX1):c.51T>C (p.Ile17=) rs781023213 0.00013
NM_000815.5(GABRD):c.1314G>A (p.Ala438=) rs138909980 0.00011
NM_000815.5(GABRD):c.444C>T (p.Pro148=) rs373608463 0.00011
NM_001350451.2(RBFOX3):c.755+18G>A rs755771324 0.00011
NM_000815.5(GABRD):c.1252C>T (p.Arg418Trp) rs200019257 0.00010
NM_001350451.2(RBFOX3):c.141G>C (p.Leu47=) rs367559413 0.00010
NM_001350451.2(RBFOX3):c.360+11G>A rs377759206 0.00010
NM_001350451.2(RBFOX3):c.603C>T (p.Tyr201=) rs377709616 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_000815.5(GABRD):c.153C>T (p.Tyr51=) rs148496176 0.00009
NM_000815.5(GABRD):c.267G>A (p.Val89=) rs377536787 0.00009
NM_001350451.2(RBFOX3):c.343T>C (p.Leu115=) rs779066017 0.00009
NM_001350451.2(RBFOX3):c.945C>T (p.Tyr315=) rs992186015 0.00009
NM_018723.4(RBFOX1):c.753T>C (p.Ser251=) rs372725346 0.00009
NM_000726.5(CACNB4):c.186C>T (p.Ser62=) rs371263141 0.00008
NM_000726.5(CACNB4):c.771G>A (p.Thr257=) rs2293219 0.00008
NM_000815.5(GABRD):c.1005C>T (p.Ala335=) rs370201162 0.00008
NM_000815.5(GABRD):c.96G>C (p.Val32=) rs773911493 0.00008
NM_018723.4(RBFOX1):c.931-5157G>C rs375075227 0.00008
NM_000815.5(GABRD):c.1350C>T (p.Tyr450=) rs368462032 0.00007
NM_000815.5(GABRD):c.447C>T (p.Asp149=) rs775338230 0.00007
NM_001350451.2(RBFOX3):c.114G>A (p.Pro38=) rs372250322 0.00007
NM_001350451.2(RBFOX3):c.735C>G (p.Pro245=) rs911540420 0.00007
NM_018723.4(RBFOX1):c.757+15G>A rs200892489 0.00007
NM_000815.5(GABRD):c.522C>T (p.Asp174=) rs534661864 0.00006
NM_001350451.2(RBFOX3):c.33C>A (p.Pro11=) rs530721444 0.00006
NM_001350451.2(RBFOX3):c.999-13C>T rs934108895 0.00006
NM_001350451.2(RBFOX3):c.9G>A (p.Gln3=) rs904015242 0.00006
NM_018723.4(RBFOX1):c.1017C>T (p.Ala339=) rs148909710 0.00006
NM_018723.4(RBFOX1):c.1050C>A (p.Pro350=) rs141919506 0.00006
NM_018723.4(RBFOX1):c.615T>C (p.Tyr205=) rs764254377 0.00006
NM_018723.4(RBFOX1):c.999C>T (p.Tyr333=) rs368442088 0.00006
NM_145893.3(RBFOX1):c.9G>A (p.Ala3=) rs771567004 0.00006
NM_000815.5(GABRD):c.105C>T (p.Asn35=) rs113473839 0.00005
NM_000815.5(GABRD):c.690C>T (p.Ser230=) rs146193210 0.00005
NM_000815.5(GABRD):c.822G>A (p.Ala274=) rs769125045 0.00005
NM_001350451.2(RBFOX3):c.1014C>T (p.Tyr338=) rs780661784 0.00005
NM_001350451.2(RBFOX3):c.237G>A (p.Ala79=) rs770647329 0.00005
NM_001350451.2(RBFOX3):c.622+14C>T rs1028999714 0.00005
NM_001350451.2(RBFOX3):c.755+16G>A rs951953480 0.00005
NM_018723.4(RBFOX1):c.28-185047C>T rs371603385 0.00005
NM_018723.4(RBFOX1):c.885C>T (p.Tyr295=) rs774530398 0.00005
NM_000726.5(CACNB4):c.1302+7T>C rs200945311 0.00004
NM_000726.5(CACNB4):c.36G>A (p.Ala12=) rs754380009 0.00004
NM_000726.5(CACNB4):c.438T>C (p.Cys146=) rs373311758 0.00004
NM_000815.5(GABRD):c.1059+16C>T rs541562450 0.00004
NM_000815.5(GABRD):c.1059+8C>T rs752030520 0.00004
NM_000815.5(GABRD):c.1203G>A (p.Thr401=) rs1348578642 0.00004
NM_000815.5(GABRD):c.1219G>A (p.Ala407Thr) rs143031542 0.00004
NM_000815.5(GABRD):c.1296C>T (p.Arg432=) rs375374936 0.00004
NM_000815.5(GABRD):c.147C>T (p.Ala49=) rs147463074 0.00004
NM_000815.5(GABRD):c.181+20C>T rs753987467 0.00004
NM_000815.5(GABRD):c.384C>T (p.Asn128=) rs767409551 0.00004
NM_000815.5(GABRD):c.408C>T (p.Asp136=) rs201757318 0.00004
NM_000815.5(GABRD):c.470+9G>A rs1045485424 0.00004
NM_000815.5(GABRD):c.471-8C>A rs748813137 0.00004
NM_000815.5(GABRD):c.684C>T (p.Phe228=) rs558718893 0.00004
NM_000815.5(GABRD):c.966T>C (p.Phe322=) rs937477150 0.00004
NM_001350451.2(RBFOX3):c.1023C>T (p.Ala341=) rs990728601 0.00004
NM_001350451.2(RBFOX3):c.1053G>A (p.Ala351=) rs1305432887 0.00004
NM_001350451.2(RBFOX3):c.360+12C>T rs901701800 0.00004
NM_001350451.2(RBFOX3):c.361-8C>T rs957289800 0.00004
NM_001350451.2(RBFOX3):c.423G>A (p.Gly141=) rs775993784 0.00004
NM_001350451.2(RBFOX3):c.48C>T (p.Asn16=) rs561710608 0.00004
NM_001350451.2(RBFOX3):c.569-18T>C rs918046686 0.00004
NM_018723.4(RBFOX1):c.220G>C (p.Glu74Gln) rs748804086 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.873G>A (p.Pro291=) rs761510301 0.00004
NM_145893.3(RBFOX1):c.36T>C (p.Tyr12=) rs767727470 0.00004
NM_000726.5(CACNB4):c.48C>T (p.His16=) rs766238244 0.00003
NM_000815.5(GABRD):c.135C>T (p.Asp45=) rs754323369 0.00003
NM_000815.5(GABRD):c.554-5T>A rs766985428 0.00003
NM_000815.5(GABRD):c.692-18C>T rs554815044 0.00003
NM_000815.5(GABRD):c.780G>C (p.Leu260=) rs369231950 0.00003
NM_000815.5(GABRD):c.847+12C>T rs770968835 0.00003
NM_000815.5(GABRD):c.848-6C>T rs368572778 0.00003
NM_001350451.2(RBFOX3):c.1002C>T (p.Tyr334=) rs972548690 0.00003
NM_001350451.2(RBFOX3):c.1056G>A (p.Ala352=) rs1228682560 0.00003
NM_001350451.2(RBFOX3):c.165C>T (p.Pro55=) rs1019002644 0.00003
NM_001350451.2(RBFOX3):c.360+10C>T rs1233398072 0.00003
NM_001350451.2(RBFOX3):c.414+13C>T rs780036724 0.00003
NM_001350451.2(RBFOX3):c.549G>A (p.Thr183=) rs369398194 0.00003
NM_001350451.2(RBFOX3):c.699C>T (p.Ala233=) rs758656116 0.00003
NM_001350451.2(RBFOX3):c.903G>A (p.Val301=) rs886670631 0.00003
NM_018723.4(RBFOX1):c.1059C>T (p.Gly353=) rs749751319 0.00003
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.63T>G (p.Ala21=) rs775667685 0.00003
NM_145893.3(RBFOX1):c.987G>A (p.Leu329=) rs1217033932 0.00003
NM_000726.5(CACNB4):c.1437G>A (p.Gln479=) rs794727118 0.00002
NM_000815.5(GABRD):c.1059+9C>G rs757611508 0.00002
NM_000815.5(GABRD):c.181+9C>T rs768389556 0.00002
NM_000815.5(GABRD):c.470+15C>A rs766248295 0.00002
NM_000815.5(GABRD):c.93C>T (p.Tyr31=) rs768454474 0.00002
NM_001350451.2(RBFOX3):c.1077+18G>A rs1010660520 0.00002
NM_001350451.2(RBFOX3):c.162C>T (p.His54=) rs966632113 0.00002
NM_001350451.2(RBFOX3):c.204C>T (p.Ala68=) rs998084414 0.00002
NM_001350451.2(RBFOX3):c.240A>G (p.Ala80=) rs1272481386 0.00002
NM_001350451.2(RBFOX3):c.306C>T (p.His102=) rs575797622 0.00002
NM_001350451.2(RBFOX3):c.414+9C>T rs911641608 0.00002
NM_001350451.2(RBFOX3):c.568+15C>G rs749459956 0.00002
NM_001350451.2(RBFOX3):c.569-14T>G rs769052612 0.00002
NM_001350451.2(RBFOX3):c.60C>T (p.Ala20=) rs1048996078 0.00002
NM_001350451.2(RBFOX3):c.657C>T (p.Ala219=) rs925521413 0.00002
NM_001350451.2(RBFOX3):c.937-8C>T rs887758601 0.00002
NM_001350451.2(RBFOX3):c.998+13G>A rs765108817 0.00002
NM_018723.4(RBFOX1):c.1056C>T (p.Tyr352=) rs372365163 0.00002
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.291G>A (p.Pro97=) rs770163669 0.00002
NM_018723.4(RBFOX1):c.387G>C (p.Arg129=) rs148594771 0.00002
NM_018723.4(RBFOX1):c.393G>A (p.Pro131=) rs772109063 0.00002
NM_018723.4(RBFOX1):c.414+20C>A rs762873223 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.931-9G>C rs200198767 0.00002
NM_018723.4(RBFOX1):c.995+9C>T rs749403774 0.00002
NM_000726.5(CACNB4):c.1021-9T>C rs1291994687 0.00001
NM_000726.5(CACNB4):c.1272A>G (p.Ser424=) rs767662214 0.00001
NM_000726.5(CACNB4):c.1500C>T (p.Tyr500=) rs749277227 0.00001
NM_000726.5(CACNB4):c.1536T>C (p.Tyr512=) rs779464772 0.00001
NM_000726.5(CACNB4):c.1554T>C (p.His518=) rs766933826 0.00001
NM_000726.5(CACNB4):c.156G>A (p.Ala52=) rs764332480 0.00001
NM_000726.5(CACNB4):c.288C>T (p.Ala96=) rs558998873 0.00001
NM_000726.5(CACNB4):c.869-5T>G rs796052289 0.00001
NM_000726.5(CACNB4):c.930T>C (p.Val310=) rs748444028 0.00001
NM_000726.5(CACNB4):c.984A>G (p.Ala328=) rs532162701 0.00001
NM_000815.5(GABRD):c.1032G>A (p.Lys344=) rs773238325 0.00001
NM_000815.5(GABRD):c.1161G>A (p.Leu387=) rs757988403 0.00001
NM_000815.5(GABRD):c.1229G>T (p.Gly410Val) rs200605909 0.00001
NM_000815.5(GABRD):c.1269C>T (p.Asp423=) rs958420807 0.00001
NM_000815.5(GABRD):c.1284C>T (p.Asp428=) rs749606562 0.00001
NM_000815.5(GABRD):c.1323C>T (p.Ala441=) rs140601233 0.00001
NM_000815.5(GABRD):c.1338C>T (p.Tyr446=) rs1274279096 0.00001
NM_000815.5(GABRD):c.15C>T (p.Ala5=) rs1453164730 0.00001
NM_000815.5(GABRD):c.222C>T (p.Ser74=) rs778846634 0.00001
NM_000815.5(GABRD):c.249+8C>G rs769197624 0.00001
NM_000815.5(GABRD):c.249+8C>T rs769197624 0.00001
NM_000815.5(GABRD):c.470+7G>A rs533453337 0.00001
NM_000815.5(GABRD):c.553+10T>C rs769597473 0.00001
NM_000815.5(GABRD):c.596G>A (p.Ser199Asn) rs779793371 0.00001
NM_000815.5(GABRD):c.612C>T (p.His204=) rs375272573 0.00001
NM_000815.5(GABRD):c.72G>A (p.Ala24=) rs772327427 0.00001
NM_000815.5(GABRD):c.786C>T (p.Val262=) rs1217829506 0.00001
NM_000815.5(GABRD):c.828G>A (p.Val276=) rs1012449006 0.00001
NM_000815.5(GABRD):c.84C>T (p.Ile28=) rs769857211 0.00001
NM_000815.5(GABRD):c.933C>T (p.Asp311=) rs200124298 0.00001
NM_000815.5(GABRD):c.960C>T (p.Phe320=) rs201101812 0.00001
NM_000815.5(GABRD):c.99C>T (p.Gly33=) rs761436257 0.00001
NM_001350451.2(RBFOX3):c.180C>T (p.Ser60=) rs1226722084 0.00001
NM_001350451.2(RBFOX3):c.222+11C>T rs2033658024 0.00001
NM_001350451.2(RBFOX3):c.339C>T (p.Pro113=) rs758551578 0.00001
NM_001350451.2(RBFOX3):c.357C>T (p.Phe119=) rs1207044826 0.00001
NM_001350451.2(RBFOX3):c.415-4A>G rs878854169 0.00001
NM_001350451.2(RBFOX3):c.415-9T>C rs878854170 0.00001
NM_001350451.2(RBFOX3):c.568+7G>A rs771129435 0.00001
NM_001350451.2(RBFOX3):c.623-11G>C rs1170040285 0.00001
NM_001350451.2(RBFOX3):c.741C>T (p.Ile247=) rs866943064 0.00001
NM_001350451.2(RBFOX3):c.750C>T (p.Tyr250=) rs1015038952 0.00001
NM_001350451.2(RBFOX3):c.912T>C (p.Asp304=) rs1474903517 0.00001
NM_001350451.2(RBFOX3):c.942C>T (p.Gly314=) rs746156238 0.00001
NM_001350451.2(RBFOX3):c.984A>T (p.Ala328=) rs1201055787 0.00001
NM_018723.4(RBFOX1):c.138C>T (p.Pro46=) rs1315127050 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.243C>T (p.Ser81=) rs1268768787 0.00001
NM_018723.4(RBFOX1):c.271-4T>G rs749852826 0.00001
NM_018723.4(RBFOX1):c.294G>C (p.Thr98=) rs372977736 0.00001
NM_018723.4(RBFOX1):c.303G>A (p.Gln101=) rs750342737 0.00001
NM_018723.4(RBFOX1):c.360T>C (p.His120=) rs767190235 0.00001
NM_018723.4(RBFOX1):c.415-12A>G rs751611395 0.00001
NM_018723.4(RBFOX1):c.469-13C>T rs1378738998 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.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.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.995+19G>C rs200394869 0.00001
NM_145893.3(RBFOX1):c.25C>T (p.Leu9=) rs1347157111 0.00001
NM_145893.3(RBFOX1):c.39C>T (p.Gly13=) rs757066841 0.00001
NM_000726.5(CACNB4):c.1021-7C>T rs2151353341
NM_000726.5(CACNB4):c.1033T>C (p.Leu345=) rs529832815
NM_000726.5(CACNB4):c.1146T>C (p.Asn382=) rs927678994
NM_000726.5(CACNB4):c.1191G>A (p.Ala397=) rs369276166
NM_000726.5(CACNB4):c.1509T>C (p.His503=) rs1060503173
NM_000726.5(CACNB4):c.391-9G>A rs1342246691
NM_000726.5(CACNB4):c.45G>A (p.Pro15=) rs536646578
NM_000726.5(CACNB4):c.465C>T (p.Leu155=) rs2151429916
NM_000726.5(CACNB4):c.582A>T (p.Ala194=) rs776968687
NM_000726.5(CACNB4):c.598+9T>G rs1578558910
NM_000726.5(CACNB4):c.780A>C (p.Thr260=) rs2151376464
NM_000815.5(GABRD):c.1005C>G (p.Ala335=)
NM_000815.5(GABRD):c.1029C>G (p.Ala343=)
NM_000815.5(GABRD):c.1050G>A (p.Pro350=)
NM_000815.5(GABRD):c.1059+17G>A
NM_000815.5(GABRD):c.1074C>T (p.Asn358=)
NM_000815.5(GABRD):c.1107C>T (p.Gly369=)
NM_000815.5(GABRD):c.1125C>T (p.Ala375=)
NM_000815.5(GABRD):c.1136G>A (p.Arg379Gln) rs369490217
NM_000815.5(GABRD):c.1146C>A (p.Arg382=) rs374718450
NM_000815.5(GABRD):c.1146C>T (p.Arg382=) rs374718450
NM_000815.5(GABRD):c.1149C>G (p.Val383=)
NM_000815.5(GABRD):c.1170C>T (p.Ser390=)
NM_000815.5(GABRD):c.1194A>C (p.Thr398=)
NM_000815.5(GABRD):c.1218A>G (p.Ala406=) rs1395046821
NM_000815.5(GABRD):c.1239G>A (p.Gly413=)
NM_000815.5(GABRD):c.1245C>T (p.Ile415=)
NM_000815.5(GABRD):c.1290C>T (p.Tyr430=)
NM_000815.5(GABRD):c.181+10G>C rs774122718
NM_000815.5(GABRD):c.181+13C>A
NM_000815.5(GABRD):c.182-12C>A
NM_000815.5(GABRD):c.182-8C>T rs2102147456
NM_000815.5(GABRD):c.183C>T (p.Gly61=)
NM_000815.5(GABRD):c.186C>A (p.Pro62=)
NM_000815.5(GABRD):c.189C>A (p.Pro63=) rs771923214
NM_000815.5(GABRD):c.189C>T (p.Pro63=)
NM_000815.5(GABRD):c.201C>G (p.Ala67=)
NM_000815.5(GABRD):c.21G>T (p.Leu7=)
NM_000815.5(GABRD):c.225C>T (p.Ile75=)
NM_000815.5(GABRD):c.250-14T>G rs1456692553
NM_000815.5(GABRD):c.250-16T>C
NM_000815.5(GABRD):c.273G>A (p.Leu91=)
NM_000815.5(GABRD):c.282C>T (p.Ser94=) rs1310692550
NM_000815.5(GABRD):c.294C>T (p.Ser98=)
NM_000815.5(GABRD):c.30G>A (p.Pro10=)
NM_000815.5(GABRD):c.345C>T (p.Phe115=)
NM_000815.5(GABRD):c.366C>T (p.Pro122=)
NM_000815.5(GABRD):c.372C>G (p.Thr124=)
NM_000815.5(GABRD):c.387C>A (p.Ala129=) rs1277746264
NM_000815.5(GABRD):c.444C>G (p.Pro148=)
NM_000815.5(GABRD):c.450C>T (p.Gly150=)
NM_000815.5(GABRD):c.457C>T (p.Leu153=)
NM_000815.5(GABRD):c.459G>A (p.Leu153=) rs1217947626
NM_000815.5(GABRD):c.470+10C>G rs760581006
NM_000815.5(GABRD):c.470+19C>T
NM_000815.5(GABRD):c.477C>T (p.Thr159=)
NM_000815.5(GABRD):c.483T>C (p.Thr161=)
NM_000815.5(GABRD):c.543C>T (p.Asp181=)
NM_000815.5(GABRD):c.553+16A>G
NM_000815.5(GABRD):c.553+9G>T
NM_000815.5(GABRD):c.554-7C>T rs773941254
NM_000815.5(GABRD):c.564A>G (p.Ser188=) rs554663245
NM_000815.5(GABRD):c.567G>A (p.Ser189=)
NM_000815.5(GABRD):c.60C>G (p.Arg20=) rs1337443605
NM_000815.5(GABRD):c.60C>T (p.Arg20=)
NM_000815.5(GABRD):c.627G>C (p.Leu209=)
NM_000815.5(GABRD):c.636G>A (p.Ala212=)
NM_000815.5(GABRD):c.669G>A (p.Thr223=) rs763261978
NM_000815.5(GABRD):c.66C>G (p.Thr22=)
NM_000815.5(GABRD):c.68+20G>A
NM_000815.5(GABRD):c.68+7G>T
NM_000815.5(GABRD):c.69-20C>T
NM_000815.5(GABRD):c.69-7T>C rs2102146941
NM_000815.5(GABRD):c.691+13C>T rs544531983
NM_000815.5(GABRD):c.691+14_691+57dup rs1252094812
NM_000815.5(GABRD):c.691+19C>A
NM_000815.5(GABRD):c.691+27_691+28insGCGCGCCCGCCGCCCCTTCCGC rs2102151165
NM_000815.5(GABRD):c.691+27_691+28insGCGCGCCCGCCGCCCCTTCCGCGCGCGCCCGCCGCCCCTTCCGC rs2102151165
NM_000815.5(GABRD):c.691+28_691+49del
NM_000815.5(GABRD):c.691+28_691+49dup rs769061415
NM_000815.5(GABRD):c.691+57_691+58insGCCGCCCCTTCCGCGCGCGCCCGCCGCCCCTTCCGCATGTGCCCGCCGCCCCTTCCGCGCGCGCCC
NM_000815.5(GABRD):c.720C>T (p.His240=)
NM_000815.5(GABRD):c.744C>G (p.Gly248=) rs760689938
NM_000815.5(GABRD):c.747G>A (p.Val249=) rs199993714
NM_000815.5(GABRD):c.81C>T (p.Asp27=)
NM_000815.5(GABRD):c.825G>A (p.Ala275=)
NM_000815.5(GABRD):c.847+15C>T
NM_000815.5(GABRD):c.847+16G>A
NM_000815.5(GABRD):c.847+7G>C rs1452430582
NM_000815.5(GABRD):c.848-17C>T
NM_000815.5(GABRD):c.848-19C>T
NM_000815.5(GABRD):c.858G>A (p.Thr286=) rs372178849
NM_000815.5(GABRD):c.858G>C (p.Thr286=) rs372178849
NM_000815.5(GABRD):c.867G>A (p.Thr289=) rs150619024
NM_000815.5(GABRD):c.876G>A (p.Thr292=)
NM_000815.5(GABRD):c.909G>A (p.Arg303=) rs2102152967
NM_000815.5(GABRD):c.909G>T (p.Arg303=)
NM_000815.5(GABRD):c.928C>T (p.Leu310=) rs745961044
NM_000815.5(GABRD):c.939C>T (p.Tyr313=)
NM_001350451.2(RBFOX3):c.1062C>T (p.Tyr354=)
NM_001350451.2(RBFOX3):c.1077+13G>A
NM_001350451.2(RBFOX3):c.1077+16C>T rs2146209619
NM_001350451.2(RBFOX3):c.1077+9C>A rs1451910541
NM_001350451.2(RBFOX3):c.1078-12T>A
NM_001350451.2(RBFOX3):c.139C>T (p.Leu47=) rs2033680072
NM_001350451.2(RBFOX3):c.201C>T (p.Ile67=) rs2146996449
NM_001350451.2(RBFOX3):c.21C>A (p.Pro7=) rs751793355
NM_001350451.2(RBFOX3):c.21C>G (p.Pro7=) rs751793355
NM_001350451.2(RBFOX3):c.21C>T (p.Pro7=) rs751793355
NM_001350451.2(RBFOX3):c.222+13A>G
NM_001350451.2(RBFOX3):c.223-17C>T rs761056905
NM_001350451.2(RBFOX3):c.223-9del
NM_001350451.2(RBFOX3):c.255G>A (p.Gln85=) rs1213853848
NM_001350451.2(RBFOX3):c.258G>A (p.Pro86=)
NM_001350451.2(RBFOX3):c.30C>T (p.Tyr10=) rs1555694660
NM_001350451.2(RBFOX3):c.33C>G (p.Pro11=) rs530721444
NM_001350451.2(RBFOX3):c.342C>T (p.Asp114=) rs2146662664
NM_001350451.2(RBFOX3):c.360+13G>A
NM_001350451.2(RBFOX3):c.361-10del rs2146564382
NM_001350451.2(RBFOX3):c.361-18_361-17del rs2076947605
NM_001350451.2(RBFOX3):c.361-20C>G
NM_001350451.2(RBFOX3):c.381C>T (p.Asp127=)
NM_001350451.2(RBFOX3):c.399C>T (p.Asn133=)
NM_001350451.2(RBFOX3):c.414+12A>C
NM_001350451.2(RBFOX3):c.414+14G>A
NM_001350451.2(RBFOX3):c.414+17G>A
NM_001350451.2(RBFOX3):c.435T>C (p.Phe145=) rs754135050
NM_001350451.2(RBFOX3):c.453T>A (p.Ala151=) rs2146531567
NM_001350451.2(RBFOX3):c.465G>A (p.Arg155=)
NM_001350451.2(RBFOX3):c.552G>A (p.Gly184=)
NM_001350451.2(RBFOX3):c.568+16C>A
NM_001350451.2(RBFOX3):c.568+16_568+17insT
NM_001350451.2(RBFOX3):c.568+18C>T
NM_001350451.2(RBFOX3):c.568+8G>T rs2076444289
NM_001350451.2(RBFOX3):c.622+14C>A rs1028999714
NM_001350451.2(RBFOX3):c.622+18G>A
NM_001350451.2(RBFOX3):c.623-13C>T
NM_001350451.2(RBFOX3):c.623-6C>T
NM_001350451.2(RBFOX3):c.623-7C>T rs2075546067
NM_001350451.2(RBFOX3):c.645C>T (p.Thr215=) rs1201014995
NM_001350451.2(RBFOX3):c.648C>G (p.Thr216=) rs1222831726
NM_001350451.2(RBFOX3):c.648C>T (p.Thr216=)
NM_001350451.2(RBFOX3):c.657C>A (p.Ala219=) rs925521413
NM_001350451.2(RBFOX3):c.687C>T (p.Gly229=) rs1227562251
NM_001350451.2(RBFOX3):c.696G>C (p.Arg232=) rs1444545956
NM_001350451.2(RBFOX3):c.699C>G (p.Ala233=) rs758656116
NM_001350451.2(RBFOX3):c.72G>T (p.Pro24=) rs776796401
NM_001350451.2(RBFOX3):c.738C>A (p.Pro246=)
NM_001350451.2(RBFOX3):c.755+14C>T rs2075511936
NM_001350451.2(RBFOX3):c.755+9C>T
NM_001350451.2(RBFOX3):c.87C>T (p.Pro29=)
NM_001350451.2(RBFOX3):c.90G>A (p.Thr30=) rs955676022
NM_001350451.2(RBFOX3):c.90G>T (p.Thr30=) rs955676022
NM_001350451.2(RBFOX3):c.936+14C>A rs1459023595
NM_001350451.2(RBFOX3):c.936+15G>C
NM_001350451.2(RBFOX3):c.936+17C>T
NM_001350451.2(RBFOX3):c.936+18G>A
NM_001350451.2(RBFOX3):c.936+18G>T rs1196792536
NM_001350451.2(RBFOX3):c.937-10T>C rs1599386357
NM_001350451.2(RBFOX3):c.937-17_937-15del
NM_001350451.2(RBFOX3):c.937-19C>T rs2146255373
NM_001350451.2(RBFOX3):c.978G>A (p.Ala326=) rs780865169
NM_001350451.2(RBFOX3):c.981G>A (p.Ala327=) rs754425963
NM_001350451.2(RBFOX3):c.993C>T (p.Ser331=) rs551189632
NM_001350451.2(RBFOX3):c.998+8C>G rs985551378
NM_001350451.2(RBFOX3):c.998+8C>T rs985551378
NM_001350451.2(RBFOX3):c.998+9G>A rs79080598
NM_001350451.2(RBFOX3):c.999-19C>G
NM_001350451.2(RBFOX3):c.999-20C>G
NM_001350451.2(RBFOX3):c.999-24_999-13dup rs2146212338
NM_001350451.2(RBFOX3):c.999-39_999-15del
NM_018723.4(RBFOX1):c.105C>T (p.Asn35=)
NM_018723.4(RBFOX1):c.1062T>C (p.Val354=)
NM_018723.4(RBFOX1):c.1071+11G>A rs191016584
NM_018723.4(RBFOX1):c.1071+11G>C rs191016584
NM_018723.4(RBFOX1):c.1071+17C>G
NM_018723.4(RBFOX1):c.1071+18C>G rs751549203
NM_018723.4(RBFOX1):c.1089G>A (p.Leu363=)
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.1194A>G (p.Ter398=) rs2148629483
NM_018723.4(RBFOX1):c.132T>A (p.Pro44=) rs1263847911
NM_018723.4(RBFOX1):c.171G>A (p.Thr57=)
NM_018723.4(RBFOX1):c.201T>A (p.Pro67=) rs757485949
NM_018723.4(RBFOX1):c.204C>T (p.Pro68=)
NM_018723.4(RBFOX1):c.210G>A (p.Gln70=) rs2076811567
NM_018723.4(RBFOX1):c.219C>A (p.Ser73=)
NM_018723.4(RBFOX1):c.234G>A (p.Ala78=)
NM_018723.4(RBFOX1):c.240G>A (p.Thr80=)
NM_018723.4(RBFOX1):c.252C>A (p.Thr84=) rs752506752
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+8G>A
NM_018723.4(RBFOX1):c.271-100_271-11del
NM_018723.4(RBFOX1):c.271-13C>T
NM_018723.4(RBFOX1):c.28-10G>T
NM_018723.4(RBFOX1):c.28-185041C>A
NM_018723.4(RBFOX1):c.28-185043T>C
NM_018723.4(RBFOX1):c.28-185043_28-185040del rs767678711
NM_018723.4(RBFOX1):c.28-185051A>T
NM_018723.4(RBFOX1):c.28-20G>T
NM_018723.4(RBFOX1):c.285A>G (p.Ala95=) rs754737409
NM_018723.4(RBFOX1):c.294G>A (p.Thr98=)
NM_018723.4(RBFOX1):c.297T>C (p.Asp99=)
NM_018723.4(RBFOX1):c.327C>T (p.Asn109=)
NM_018723.4(RBFOX1):c.339G>A (p.Lys113=) rs760846272
NM_018723.4(RBFOX1):c.357G>C (p.Leu119=) rs751076623
NM_018723.4(RBFOX1):c.414+16C>A
NM_018723.4(RBFOX1):c.414+20C>G
NM_018723.4(RBFOX1):c.415-14C>A rs766827645
NM_018723.4(RBFOX1):c.415-14C>T rs766827645
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.456G>A (p.Glu152=) rs1478825837
NM_018723.4(RBFOX1):c.45C>T (p.Ala15=) rs1351528483
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.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.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.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.585A>T (p.Val195=) rs368983711
NM_018723.4(RBFOX1):c.618A>G (p.Thr206=)
NM_018723.4(RBFOX1):c.622+11A>T
NM_018723.4(RBFOX1):c.623-16G>T
NM_018723.4(RBFOX1):c.639A>G (p.Pro213=) rs1389267525
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.687G>A (p.Leu229=) rs2060799020
NM_018723.4(RBFOX1):c.72T>A (p.Pro24=) rs1555542676
NM_018723.4(RBFOX1):c.757+14C>G
NM_018723.4(RBFOX1):c.757+19C>G
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.758-5C>G
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.786C>G (p.Thr262=) rs755253534
NM_018723.4(RBFOX1):c.786C>T (p.Thr262=)
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.855C>T (p.Ala285=)
NM_018723.4(RBFOX1):c.858G>A (p.Ala286=) rs1060504700
NM_018723.4(RBFOX1):c.870C>T (p.Pro290=)
NM_018723.4(RBFOX1):c.876C>T (p.Ile292=)
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.931-12C>T
NM_018723.4(RBFOX1):c.931-18T>C
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.931-5221A>G
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.978C>A (p.Ala326=) rs146803665
NM_018723.4(RBFOX1):c.978C>T (p.Ala326=) rs146803665
NM_018723.4(RBFOX1):c.984C>T (p.Ala328=) rs1312874997
NM_018723.4(RBFOX1):c.995+16C>T
NM_018723.4(RBFOX1):c.996-13A>G
NM_018723.4(RBFOX1):c.996-14T>G
NM_018723.4(RBFOX1):c.996-15C>G
NM_018723.4(RBFOX1):c.996-18C>T
NM_018723.4(RBFOX1):c.99G>A (p.Pro33=)
NM_145893.3(RBFOX1):c.18A>T (p.Gly6=)
NM_145893.3(RBFOX1):c.24C>T (p.Leu8=) rs1159971428
NM_145893.3(RBFOX1):c.54A>G (p.Val18=) rs770264923
NM_145893.3(RBFOX1):c.69C>T (p.Tyr23=) rs1378405539
NM_145893.3(RBFOX1):c.75T>C (p.Pro25=) rs2144461588
NM_145893.3(RBFOX1):c.957G>A (p.Val319=)

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