ClinVar Miner

List of variants reported as uncertain significance for Bilateral tonic-clonic seizure 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_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=)	rs147132904	0.00175
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His)	rs148321416	0.00015
NM_001330260.2(SCN8A):c.5558A>C (p.Lys1853Thr)	rs1410900258

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