List of variants in gene RBFOX1 reported as likely benign for idiopathic generalized epilepsy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 165

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HGVS	dbSNP	gnomAD frequency
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_145893.3(RBFOX1):c.11C>G (p.Ser4Cys)	rs147306562	0.00029
NM_018723.4(RBFOX1):c.969T>G (p.Pro323=)	rs1416883490	0.00024
NM_018723.4(RBFOX1):c.867G>T (p.Pro289=)	rs745729142	0.00016
NM_145893.3(RBFOX1):c.51T>C (p.Ile17=)	rs781023213	0.00013
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.753T>C (p.Ser251=)	rs372725346	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.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_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_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.931-9G>C	rs200198767	0.00002
NM_018723.4(RBFOX1):c.995+9C>T	rs749403774	0.00002
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.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_018723.4(RBFOX1):c.105C>T (p.Asn35=)
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.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.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.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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