ClinVar Miner

List of variants in gene RBFOX1 reported as uncertain significance for EIG

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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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.1089G>C (p.Leu363Phe)
NM_018723.4(RBFOX1):c.125C>G (p.Thr42Arg)
NM_018723.4(RBFOX1):c.130C>T (p.Pro44Ser) rs201490398
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.196T>C (p.Tyr66His)
NM_018723.4(RBFOX1):c.199C>T (p.Pro67Ser) rs143573994
NM_018723.4(RBFOX1):c.233C>G (p.Ala78Gly) rs761205127
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.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.46G>A (p.Ala16Thr) rs779321097
NM_018723.4(RBFOX1):c.52C>G (p.Pro18Ala) rs149974858
NM_018723.4(RBFOX1):c.802C>A (p.Arg268=)
NM_018723.4(RBFOX1):c.829C>T (p.Arg277Cys) rs1189994954
NM_018723.4(RBFOX1):c.871C>G (p.Pro291Ala)
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.979G>A (p.Ala327Thr)

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