ClinVar Miner

List of variants in gene RBFOX1 studied for EIG

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP
NC_000016.9:g.(?_7560981)_(7680705_?)dup
NM_018723.4(RBFOX1):c.1006G>C (p.Val336Leu) rs766496349
NM_018723.4(RBFOX1):c.1033G>A (p.Ala345Thr) rs150941982
NM_018723.4(RBFOX1):c.1033G>C (p.Ala345Pro) rs150941982
NM_018723.4(RBFOX1):c.1040C>T (p.Ala347Val) rs1555812114
NM_018723.4(RBFOX1):c.1042C>G (p.Pro348Ala)
NM_018723.4(RBFOX1):c.1057G>A (p.Gly353Ser) rs145873257
NM_018723.4(RBFOX1):c.1071+3G>A rs79369633
NM_018723.4(RBFOX1):c.1089G>C (p.Leu363Phe)
NM_018723.4(RBFOX1):c.114C>A (p.Pro38=) rs376877653
NM_018723.4(RBFOX1):c.125C>G (p.Thr42Arg)
NM_018723.4(RBFOX1):c.126G>A (p.Thr42=) rs17143930
NM_018723.4(RBFOX1):c.130C>T (p.Pro44Ser) rs201490398
NM_018723.4(RBFOX1):c.137C>A (p.Pro46His) rs113298071
NM_018723.4(RBFOX1):c.142C>T (p.Pro48Ser) rs151214012
NM_018723.4(RBFOX1):c.144C>T (p.Pro48=) rs61742359
NM_018723.4(RBFOX1):c.151G>A (p.Glu51Lys)
NM_018723.4(RBFOX1):c.158C>G (p.Thr53Arg)
NM_018723.4(RBFOX1):c.163C>G (p.Gln55Glu) rs1567632409
NM_018723.4(RBFOX1):c.175C>T (p.Pro59Ser) rs137880529
NM_018723.4(RBFOX1):c.196T>C (p.Tyr66His)
NM_018723.4(RBFOX1):c.199C>T (p.Pro67Ser) rs143573994
NM_018723.4(RBFOX1):c.220G>C (p.Glu74Gln) rs748804086
NM_018723.4(RBFOX1):c.233C>G (p.Ala78Gly) rs761205127
NM_018723.4(RBFOX1):c.270+10C>G rs113881725
NM_018723.4(RBFOX1):c.28-185063T>C rs147525462
NM_018723.4(RBFOX1):c.28-185090C>T
NM_018723.4(RBFOX1):c.28-185100A>G rs779418628
NM_018723.4(RBFOX1):c.28-185111A>T
NM_018723.4(RBFOX1):c.282C>T (p.Asp94=) rs145861898
NM_018723.4(RBFOX1):c.290C>T (p.Pro97Leu)
NM_018723.4(RBFOX1):c.293C>T (p.Thr98Met) rs373077021
NM_018723.4(RBFOX1):c.322G>C (p.Glu108Gln)
NM_018723.4(RBFOX1):c.333A>G (p.Glu111=) rs140174146
NM_018723.4(RBFOX1):c.354G>A (p.Arg118=) rs200053144
NM_018723.4(RBFOX1):c.387G>C (p.Arg129=) rs148594771
NM_018723.4(RBFOX1):c.46G>A (p.Ala16Thr) rs779321097
NM_018723.4(RBFOX1):c.52C>G (p.Pro18Ala) rs149974858
NM_018723.4(RBFOX1):c.562-9T>C rs1555648980
NM_018723.4(RBFOX1):c.677-4G>A rs759738790
NM_018723.4(RBFOX1):c.677-5C>T rs147023054
NM_018723.4(RBFOX1):c.708G>A (p.Glu236=) rs368113568
NM_018723.4(RBFOX1):c.72T>A (p.Pro24=) rs1555542676
NM_018723.4(RBFOX1):c.747T>C (p.Tyr249=) rs779034823
NM_018723.4(RBFOX1):c.758-4G>T rs112339093
NM_018723.4(RBFOX1):c.758-5_758-4delinsTT rs1060504699
NM_018723.4(RBFOX1):c.795C>T (p.Ala265=) rs376576588
NM_018723.4(RBFOX1):c.802C>A (p.Arg268=)
NM_018723.4(RBFOX1):c.829C>T (p.Arg277Cys) rs1189994954
NM_018723.4(RBFOX1):c.858G>A (p.Ala286=) rs1060504700
NM_018723.4(RBFOX1):c.871C>G (p.Pro291Ala)
NM_018723.4(RBFOX1):c.873G>A (p.Pro291=) rs761510301
NM_018723.4(RBFOX1):c.931-3T>C
NM_018723.4(RBFOX1):c.931-5191G>T
NM_018723.4(RBFOX1):c.931-5226T>A rs768777551
NM_018723.4(RBFOX1):c.94C>G (p.Pro32Ala) rs1567630819
NM_018723.4(RBFOX1):c.955G>T (p.Ala319Ser) rs199644500
NM_018723.4(RBFOX1):c.96C>G (p.Pro32=) rs143695164
NM_018723.4(RBFOX1):c.979G>A (p.Ala327Thr)
NM_018723.4(RBFOX1):c.984C>T (p.Ala328=) rs1312874997

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