ClinVar Miner

List of variants studied for epilepsy by Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015267.4(CUX2):c.2834C>T (p.Thr945Met) rs1351590882 0.00001
NM_016023.5(OTUD6B):c.479A>G (p.Tyr160Cys)
NM_016023.5(OTUD6B):c.83-1del
NM_139137.4(KCNC2):c.1213A>G (p.Arg405Gly) rs2136944093

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