ClinVar Miner

List of variants studied for idiopathic generalized epilepsy by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000815.5(GABRD):c.1049C>T (p.Pro350Leu)
NM_004366.6(CLCN2):c.335T>C (p.Ile112Thr)
NM_021098.3(CACNA1H):c.3804C>G (p.Ser1268Arg) rs750607074

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