ClinVar Miner

List of variants studied for variable-age onset idiopathic generalized epilepsy syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00068
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471 0.00003
NM_001127644.2(GABRA1):c.80G>A (p.Gly27Glu) rs866861998
NM_018941.4(CLN8):c.98T>C (p.Val33Ala) rs1301388199

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