ClinVar Miner

List of variants studied for benign neonatal seizures by NeuroMeGen, Hospital Clinico Santiago de Compostela

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004519.4(KCNQ3):c.899T>C (p.Phe300Ser) rs1554627439
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.2127del (p.Val710fs) rs118192244
NM_172107.4(KCNQ2):c.319C>T (p.Leu107Phe) rs864321712
NM_172107.4(KCNQ2):c.775G>T (p.Asp259Tyr) rs777257591

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