ClinVar Miner

List of variants reported as likely pathogenic for seizures, benign familial neonatal, 1 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219

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