ClinVar Miner

List of variants in gene RBFOX3 reported as uncertain significance for generalized epilepsy

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_001350451.2(RBFOX3):c.19C>T (p.Pro7Ser) rs376060745 0.00038
NM_001350451.2(RBFOX3):c.245C>T (p.Thr82Met) rs748950439 0.00035
NM_001350451.2(RBFOX3):c.22G>A (p.Ala8Thr) rs1299842245 0.00030
NM_001350451.2(RBFOX3):c.347G>A (p.Arg116Gln) rs199891032 0.00024
NM_001350451.2(RBFOX3):c.436G>C (p.Glu146Gln) rs1340183543 0.00018
NM_001350451.2(RBFOX3):c.568+6G>C rs953699995 0.00012
NM_001350451.2(RBFOX3):c.257C>T (p.Pro86Leu) rs377660420 0.00007
NM_001350451.2(RBFOX3):c.61G>A (p.Glu21Lys) rs1055293531 0.00005
NM_001350451.2(RBFOX3):c.1078-3T>C rs990360044 0.00004
NM_001350451.2(RBFOX3):c.232G>A (p.Glu78Lys) rs1032718998 0.00004
NM_001350451.2(RBFOX3):c.62A>C (p.Glu21Ala) rs1167103679 0.00004
NM_001350451.2(RBFOX3):c.89C>T (p.Thr30Met) rs747394355 0.00004
NM_001350451.2(RBFOX3):c.166G>A (p.Glu56Lys) rs748110754 0.00003
NM_001350451.2(RBFOX3):c.92A>G (p.Gln31Arg) rs1332700365 0.00003
NM_001350451.2(RBFOX3):c.556C>T (p.Pro186Ser) rs372072435 0.00002
NM_001350451.2(RBFOX3):c.71C>T (p.Pro24Leu) rs1189505871 0.00002
NM_001350451.2(RBFOX3):c.1028C>T (p.Pro343Leu) rs1208480613 0.00001
NM_001350451.2(RBFOX3):c.1051G>A (p.Ala351Thr) rs1003593947 0.00001
NM_001350451.2(RBFOX3):c.1055C>T (p.Ala352Val) rs1294363374 0.00001
NM_001350451.2(RBFOX3):c.1077+6G>A rs757903881 0.00001
NM_001350451.2(RBFOX3):c.184G>A (p.Ala62Thr) rs2033670420 0.00001
NM_001350451.2(RBFOX3):c.185C>T (p.Ala62Val) rs1289325621 0.00001
NM_001350451.2(RBFOX3):c.236C>T (p.Ala79Val) rs776016743 0.00001
NM_001350451.2(RBFOX3):c.277A>G (p.Thr93Ala) rs1568139609 0.00001
NM_001350451.2(RBFOX3):c.278C>G (p.Thr93Arg) rs1339077239 0.00001
NM_001350451.2(RBFOX3):c.458G>A (p.Arg153Gln) rs566515477 0.00001
NM_001350451.2(RBFOX3):c.646A>G (p.Thr216Ala) rs1456815875 0.00001
NM_001350451.2(RBFOX3):c.647C>T (p.Thr216Ile) rs1671568075 0.00001
NM_001350451.2(RBFOX3):c.665A>T (p.Tyr222Phe) rs1568119836 0.00001
NM_001350451.2(RBFOX3):c.673G>A (p.Ala225Thr) rs1479403018 0.00001
NM_001350451.2(RBFOX3):c.688C>T (p.Arg230Trp) rs1170085775 0.00001
NM_001350451.2(RBFOX3):c.700G>A (p.Val234Met) rs921899416 0.00001
NM_001350451.2(RBFOX3):c.709A>G (p.Thr237Ala) rs551476510 0.00001
NM_001350451.2(RBFOX3):c.718G>A (p.Ala240Thr) rs1381383669 0.00001
NM_001350451.2(RBFOX3):c.80C>T (p.Pro27Leu) rs368393347 0.00001
NM_001350451.2(RBFOX3):c.1004G>T (p.Gly335Val) rs2146211667
NM_001350451.2(RBFOX3):c.1022C>A (p.Ala341Asp)
NM_001350451.2(RBFOX3):c.1028C>G (p.Pro343Arg) rs1208480613
NM_001350451.2(RBFOX3):c.1052C>T (p.Ala351Val)
NM_001350451.2(RBFOX3):c.1058C>T (p.Thr353Ile)
NM_001350451.2(RBFOX3):c.1067T>C (p.Ile356Thr)
NM_001350451.2(RBFOX3):c.1068T>G (p.Ile356Met) rs2074722616
NM_001350451.2(RBFOX3):c.110C>A (p.Thr37Asn)
NM_001350451.2(RBFOX3):c.110C>T (p.Thr37Ile)
NM_001350451.2(RBFOX3):c.118C>T (p.Pro40Ser) rs1298625389
NM_001350451.2(RBFOX3):c.121A>C (p.Thr41Pro)
NM_001350451.2(RBFOX3):c.126G>T (p.Glu42Asp) rs1412372562
NM_001350451.2(RBFOX3):c.128A>G (p.His43Arg)
NM_001350451.2(RBFOX3):c.145A>G (p.Thr49Ala)
NM_001350451.2(RBFOX3):c.164C>G (p.Pro55Arg) rs2146997386
NM_001350451.2(RBFOX3):c.164C>T (p.Pro55Leu)
NM_001350451.2(RBFOX3):c.166G>C (p.Glu56Gln)
NM_001350451.2(RBFOX3):c.181G>A (p.Glu61Lys)
NM_001350451.2(RBFOX3):c.197C>A (p.Pro66His)
NM_001350451.2(RBFOX3):c.202G>A (p.Ala68Thr) rs557599713
NM_001350451.2(RBFOX3):c.205G>C (p.Gly69Arg)
NM_001350451.2(RBFOX3):c.20C>T (p.Pro7Leu) rs2033733857
NM_001350451.2(RBFOX3):c.215C>G (p.Thr72Arg) rs1372121041
NM_001350451.2(RBFOX3):c.217G>A (p.Val73Met)
NM_001350451.2(RBFOX3):c.222+5G>A
NM_001350451.2(RBFOX3):c.222G>A (p.Pro74=) rs1037097785
NM_001350451.2(RBFOX3):c.222G>C (p.Pro74=) rs1037097785
NM_001350451.2(RBFOX3):c.223-9_223-8del
NM_001350451.2(RBFOX3):c.254A>C (p.Gln85Pro) rs2146665255
NM_001350451.2(RBFOX3):c.263A>T (p.His88Leu)
NM_001350451.2(RBFOX3):c.268T>G (p.Ser90Ala)
NM_001350451.2(RBFOX3):c.273C>A (p.Asp91Glu) rs1599450000
NM_001350451.2(RBFOX3):c.307G>A (p.Val103Ile) rs1465377886
NM_001350451.2(RBFOX3):c.326G>A (p.Arg109Gln)
NM_001350451.2(RBFOX3):c.337C>T (p.Pro113Ser)
NM_001350451.2(RBFOX3):c.34C>G (p.Pro12Ala)
NM_001350451.2(RBFOX3):c.35C>T (p.Pro12Leu) rs1403085500
NM_001350451.2(RBFOX3):c.35dup (p.Pro13fs)
NM_001350451.2(RBFOX3):c.361-8_361-3del
NM_001350451.2(RBFOX3):c.378A>C (p.Leu126Phe)
NM_001350451.2(RBFOX3):c.38C>G (p.Pro13Arg) rs1226535060
NM_001350451.2(RBFOX3):c.38C>T (p.Pro13Leu) rs1226535060
NM_001350451.2(RBFOX3):c.404G>A (p.Arg135Gln) rs2076940658
NM_001350451.2(RBFOX3):c.414G>C (p.Lys138Asn) rs1568134061
NM_001350451.2(RBFOX3):c.457C>G (p.Arg153Gly)
NM_001350451.2(RBFOX3):c.476A>G (p.Asn159Ser)
NM_001350451.2(RBFOX3):c.49G>A (p.Gly17Ser)
NM_001350451.2(RBFOX3):c.542AGA[1] (p.Lys182del) rs1568129070
NM_001350451.2(RBFOX3):c.54C>G (p.Ile18Met) rs2033713868
NM_001350451.2(RBFOX3):c.556C>A (p.Pro186Thr) rs372072435
NM_001350451.2(RBFOX3):c.562A>G (p.Thr188Ala)
NM_001350451.2(RBFOX3):c.568+3A>G
NM_001350451.2(RBFOX3):c.568+5G>C
NM_001350451.2(RBFOX3):c.568+6G>A
NM_001350451.2(RBFOX3):c.593G>A (p.Gly198Asp)
NM_001350451.2(RBFOX3):c.602A>G (p.Tyr201Cys)
NM_001350451.2(RBFOX3):c.604G>A (p.Gly202Arg) rs775017222
NM_001350451.2(RBFOX3):c.617A>G (p.Tyr206Cys)
NM_001350451.2(RBFOX3):c.623-17G>A
NM_001350451.2(RBFOX3):c.632T>A (p.Phe211Tyr)
NM_001350451.2(RBFOX3):c.638A>G (p.Tyr213Cys)
NM_001350451.2(RBFOX3):c.661G>C (p.Ala221Pro) rs2146313081
NM_001350451.2(RBFOX3):c.668G>C (p.Arg223Pro)
NM_001350451.2(RBFOX3):c.676C>A (p.His226Asn) rs2146312862
NM_001350451.2(RBFOX3):c.679C>A (p.Leu227Ile) rs565220696
NM_001350451.2(RBFOX3):c.679C>G (p.Leu227Val)
NM_001350451.2(RBFOX3):c.686GCCGGG[1] (p.229GR[1])
NM_001350451.2(RBFOX3):c.686GCCGGG[3] (p.Arg232_Ala233insGlyArg)
NM_001350451.2(RBFOX3):c.68C>T (p.Ala23Val) rs878854171
NM_001350451.2(RBFOX3):c.698C>A (p.Ala233Asp)
NM_001350451.2(RBFOX3):c.700G>T (p.Val234Leu)
NM_001350451.2(RBFOX3):c.714T>G (p.Phe238Leu) rs1599396290
NM_001350451.2(RBFOX3):c.733C>T (p.Pro245Ser) rs1204664048
NM_001350451.2(RBFOX3):c.73C>T (p.Pro25Ser) rs2146999516
NM_001350451.2(RBFOX3):c.743_750dup (p.Gly251fs)
NM_001350451.2(RBFOX3):c.749dup (p.Tyr250Ter)
NM_001350451.2(RBFOX3):c.755C>A (p.Ala252Glu)
NM_001350451.2(RBFOX3):c.8A>G (p.Gln3Arg)
NM_001350451.2(RBFOX3):c.901G>C (p.Val301Leu)
NM_001350451.2(RBFOX3):c.901G>T (p.Val301Leu)
NM_001350451.2(RBFOX3):c.928G>A (p.Glu310Lys) rs2075332971
NM_001350451.2(RBFOX3):c.936+2del rs2146289066
NM_001350451.2(RBFOX3):c.946G>C (p.Ala316Pro) rs1440844625
NM_001350451.2(RBFOX3):c.949G>A (p.Ala317Thr) rs2146254444
NM_001350451.2(RBFOX3):c.956G>C (p.Arg319Thr) rs2146254285
NM_001350451.2(RBFOX3):c.961G>A (p.Ala321Thr)
NM_001350451.2(RBFOX3):c.977C>T (p.Ala326Val)
NM_001350451.2(RBFOX3):c.980C>T (p.Ala327Val)
NM_001350451.2(RBFOX3):c.999-9C>G rs1311373046

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