ClinVar Miner

List of variants in gene RBFOX1 reported as likely benign

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Gene type:
ClinVar version:
Total variants: 188
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HGVS dbSNP gnomAD frequency
NM_018723.4(RBFOX1):c.-229C>G rs144510926 0.00395
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_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.219C>T (p.Ser73=) rs777211248 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.890+9G>A rs1277579126 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
GRCh37/hg19 16p13.3(chr16:6294808-6394422)x1
GRCh37/hg19 16p13.3(chr16:6316828-6388648)x3
GRCh37/hg19 16p13.3(chr16:6750079-7123433)x3
GRCh37/hg19 16p13.3(chr16:6910132-7211575)x1
GRCh37/hg19 16p13.3(chr16:7038142-7126757)x1
GRCh37/hg19 16p13.3(chr16:7303708-7357294)
GRCh37/hg19 16p13.3(chr16:7729780-7751855)x1
GRCh38/hg38 16p13.3(chr16:6338660-6374221)x1
GRCh38/hg38 16p13.3(chr16:6470239-6489245)x1
GRCh38/hg38 16p13.3(chr16:6610794-6635820)x3
GRCh38/hg38 16p13.3(chr16:6826836-6901129)x1
GRCh38/hg38 16p13.3(chr16:6839301-6901129)x1
GRCh38/hg38 16p13.3(chr16:6941377-6967574)x1
GRCh38/hg38 16p13.3(chr16:7054994-7076815)x1
NM_018723.4(RBFOX1):c.-126-6C>T
NM_018723.4(RBFOX1):c.-22C>T
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.171G>T (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.676+8G>A rs1420024348
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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