ClinVar Miner

List of variants studied for epilepsy by Pediatrics, West China Second University Hospital, Sichuan University

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_172107.4(KCNQ2):c.2312C>T (p.Thr771Ile) rs759258191 0.00002
NM_172107.4(KCNQ2):c.652T>A (p.Trp218Arg) rs892572733
NM_172107.4(KCNQ2):c.873G>C (p.Arg291Ser) rs1057519535
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212

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