ClinVar Miner

List of variants in gene RBFOX1 reported as benign for EIG

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_018723.4(RBFOX1):c.1071+3G>A rs79369633
NM_018723.4(RBFOX1):c.126G>A (p.Thr42=) rs17143930
NM_018723.4(RBFOX1):c.137C>A (p.Pro46His) rs113298071
NM_018723.4(RBFOX1):c.144C>T (p.Pro48=) rs61742359
NM_018723.4(RBFOX1):c.270+10C>G rs113881725
NM_018723.4(RBFOX1):c.282C>T (p.Asp94=) rs145861898
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.708G>A (p.Glu236=) rs368113568
NM_018723.4(RBFOX1):c.758-4G>T rs112339093
NM_018723.4(RBFOX1):c.96C>G (p.Pro32=) rs143695164

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