ClinVar Miner

List of variants reported as likely pathogenic for idiopathic generalized epilepsy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004366.6(CLCN2):c.898+1G>A rs141074059 0.00009
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter) rs201330912 0.00002
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs) rs756385625

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