ClinVar Miner

List of variants in gene RBFOX3 reported as likely benign for idiopathic generalized epilepsy

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_001350451.2(RBFOX3):c.63G>A (p.Glu21=) rs565537117 0.00122
NM_001350451.2(RBFOX3):c.39G>A (p.Pro13=) rs940680437 0.00091
NM_001350451.2(RBFOX3):c.103G>A (p.Gly35Ser) rs375309858 0.00054
NM_001350451.2(RBFOX3):c.223-18C>T rs181329485 0.00049
NM_001350451.2(RBFOX3):c.222+14C>T rs373727615 0.00040
NM_001350451.2(RBFOX3):c.19C>T (p.Pro7Ser) rs376060745 0.00038
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_001350451.2(RBFOX3):c.548C>T (p.Thr183Met) rs542684395 0.00029
NM_001350451.2(RBFOX3):c.594C>T (p.Gly198=) rs371067982 0.00029
NM_001350451.2(RBFOX3):c.1077+17C>T rs752716524 0.00025
NM_001350451.2(RBFOX3):c.347G>A (p.Arg116Gln) rs199891032 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_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_001350451.2(RBFOX3):c.999-12G>A rs918641407 0.00015
NM_001350451.2(RBFOX3):c.970G>A (p.Ala324Thr) rs112978510 0.00014
NM_001350451.2(RBFOX3):c.1029G>A (p.Pro343=) rs373093807 0.00013
NM_001350451.2(RBFOX3):c.755+18G>A rs755771324 0.00011
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_001350451.2(RBFOX3):c.343T>C (p.Leu115=) rs779066017 0.00009
NM_001350451.2(RBFOX3):c.945C>T (p.Tyr315=) rs992186015 0.00009
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_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_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_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_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_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_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_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

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