ClinVar Miner

List of variants in gene RBFOX3 reported as benign for epilepsy

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001350451.2(RBFOX3):c.622+6A>G rs58352742 0.42513
NM_001350451.2(RBFOX3):c.568+17C>T rs11651975 0.26012
NM_001350451.2(RBFOX3):c.66C>T (p.Tyr22=) rs80198744 0.18638
NM_001350451.2(RBFOX3):c.998+9G>T rs79080598 0.00519
NM_001350451.2(RBFOX3):c.360+16C>T rs550827396 0.00312
NM_001350451.2(RBFOX3):c.321C>T (p.Pro107=) rs150282906 0.00254
NM_001350451.2(RBFOX3):c.623-4G>T rs547643968 0.00164
NM_001350451.2(RBFOX3):c.552G>T (p.Gly184=) rs375171072 0.00060
NM_001350451.2(RBFOX3):c.960C>T (p.Tyr320=) rs539897924 0.00038
NM_001350451.2(RBFOX3):c.10C>A (p.Pro4Thr) rs368372440 0.00002
NM_001350451.2(RBFOX3):c.641C>A (p.Pro214His) rs370372079 0.00001
NM_001350451.2(RBFOX3):c.622+3dup rs1351338220
NM_001350451.2(RBFOX3):c.936+15G>A rs377444179

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