ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004519.4(KCNQ3):c.2454C>T (p.Phe818=) rs375379466 0.00006
NM_172107.4(KCNQ2):c.2030G>C (p.Arg677Pro) rs1326189284
NM_172107.4(KCNQ2):c.773A>T (p.Asn258Ile)

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