ClinVar Miner

List of variants studied for variable-age onset idiopathic generalized epilepsy syndrome by Mendelics

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn) rs796052488
NM_001127644.2(GABRA1):c.559T>G (p.Tyr187Asp) rs2113389254
NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg) rs1581220163

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