ClinVar Miner

List of variants studied for genetic generalized epilepsy by Department of Neurology, Hunan Children's Hospital

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_021072.4(HCN1):c.1138A>T (p.Ile380Phe) rs2112040738
NM_021072.4(HCN1):c.1169T>C (p.Val390Ala) rs2112040676
NM_021072.4(HCN1):c.1171G>A (p.Gly391Ser) rs1561139569
NM_021072.4(HCN1):c.1184C>G (p.Ala395Gly) rs2112040633
NM_021072.4(HCN1):c.1214G>A (p.Arg405Gln) rs1351333514
NM_021072.4(HCN1):c.2128_2129dup (p.Ser710fs) rs2111839421
NM_021072.4(HCN1):c.719A>G (p.Glu240Gly) rs2112031908
NM_021072.4(HCN1):c.808C>T (p.Arg270Ter) rs541911994

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