ClinVar Miner

List of variants studied for genetic generalized epilepsy by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu) rs2105868295
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001365536.1(SCN9A):c.1844A>G (p.Asn615Ser) rs780995899
NM_004366.6(CLCN2):c.1550C>T (p.Thr517Met) rs1458831101
NM_021072.4(HCN1):c.1460T>C (p.Met487Thr)

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