ClinVar Miner

List of variants in gene combination LOC126862278, RBFOX1 reported as uncertain significance for hereditary generalized epilepsy

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_018723.4(RBFOX1):c.320C>T (p.Ser107Phe) rs201282652 0.00025
NM_018723.4(RBFOX1):c.290C>T (p.Pro97Leu) rs139251660 0.00022
NM_018723.4(RBFOX1):c.329C>T (p.Thr110Met) rs200502098 0.00008
NM_018723.4(RBFOX1):c.293C>T (p.Thr98Met) rs373077021 0.00004
NM_018723.4(RBFOX1):c.292A>G (p.Thr98Ala) rs769491451 0.00002
NM_018723.4(RBFOX1):c.322G>C (p.Glu108Gln) rs771438834 0.00002
NM_018723.4(RBFOX1):c.305C>T (p.Pro102Leu) rs765974335 0.00001
NC_000016.9:g.(?_7560981)_(7680705_?)dup
NM_018723.4(RBFOX1):c.289C>G (p.Pro97Ala)
NM_018723.4(RBFOX1):c.290C>A (p.Pro97Gln)
NM_018723.4(RBFOX1):c.295G>A (p.Asp99Asn)
NM_018723.4(RBFOX1):c.311C>G (p.Thr104Arg)
NM_018723.4(RBFOX1):c.334A>G (p.Asn112Asp)
NM_018723.4(RBFOX1):c.338A>G (p.Lys113Arg)
NM_018723.4(RBFOX1):c.339G>C (p.Lys113Asn)
NM_018723.4(RBFOX1):c.347C>T (p.Pro116Leu) rs905562885
NM_018723.4(RBFOX1):c.353G>A (p.Arg118Gln) rs1057521725
NM_018723.4(RBFOX1):c.386G>A (p.Arg129Gln)
NM_018723.4(RBFOX1):c.396C>A (p.Asp132Glu) rs1242620682
NM_018723.4(RBFOX1):c.400A>T (p.Arg134Ter)
NM_018723.4(RBFOX1):c.413G>C (p.Gly138Ala) rs747242541
NM_018723.4(RBFOX1):c.413G>T (p.Gly138Val)
NM_018723.4(RBFOX1):c.414+5G>A rs2152836590

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