ClinVar Miner

List of variants studied for Lennox-Gastaut syndrome by Cavalleri Lab, Royal College of Surgeons in Ireland

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp) rs1596443241
NM_001271.4(CHD2):c.4921C>T (p.Gln1641Ter) rs864309548
NM_001271.4(CHD2):c.948C>A (p.Tyr316Ter) rs1423903266

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