ClinVar Miner

List of variants studied for genetic generalized epilepsy by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys) rs140268343 0.00021
NM_001037.5(SCN1B):c.85G>A (p.Glu29Lys) rs767384862 0.00001

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