ClinVar Miner

List of variants in gene FGF12 studied for developmental and epileptic encephalopathy

Included ClinVar conditions (219):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_004113.6(FGF12):c.125-21C>T rs4571187 0.40463
NM_004113.6(FGF12):c.229-7C>T rs79608878 0.04458
NM_004113.6(FGF12):c.88A>G (p.Thr30Ala) rs142373936 0.00006
NM_004113.6(FGF12):c.125-3C>G rs371917110 0.00001
NM_004113.6(FGF12):c.118G>C (p.Asp40His)
NM_004113.6(FGF12):c.125-3181A>G rs1577367655
NM_004113.6(FGF12):c.14-47562G>A
NM_004113.6(FGF12):c.14-47649A>G rs2108776132
NM_004113.6(FGF12):c.142C>T (p.Pro48Ser)
NM_004113.6(FGF12):c.145G>C (p.Val49Leu) rs199832838
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) rs1553798675
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004113.6(FGF12):c.229-8dup rs34265167
NM_004113.6(FGF12):c.341G>A (p.Gly114Glu)
NM_004113.6(FGF12):c.457G>A (p.Glu153Lys)
NM_004113.6(FGF12):c.491G>A (p.Ser164Asn) rs2108576388
NM_004113.6(FGF12):c.83A>T (p.Asp28Val)

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