ClinVar Miner

List of variants studied for seizures, benign familial neonatal, 1 by NeuroMeGen, Hospital Clinico Santiago de Compostela

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
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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