ClinVar Miner

List of variants reported as likely pathogenic for Seizures, benign familial neonatal, 1 by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met)	rs794727134	0.00001
NM_172107.4(KCNQ2):c.1658G>C (p.Arg553Pro)	rs118192234
NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn)	rs777257591

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