ClinVar Miner

List of variants reported as benign for seizures, benign familial neonatal, 1 by Genome-Nilou Lab

Included ClinVar conditions (2):

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr)	rs1801475	0.59301
NM_172107.4(KCNQ2):c.388-26G>T	rs6062939	0.21189
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=)	rs1801471	0.07011

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