ClinVar Miner

List of variants reported as uncertain significance for Seizures, benign familial infantile, 3 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn)	rs756493732	0.00001
NM_001040142.2(SCN2A):c.2636G>T (p.Gly879Val)	rs1559376694
NM_001040142.2(SCN2A):c.4579T>G (p.Phe1527Val)	rs2468149374

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