ClinVar Miner

List of variants reported for Bilateral tonic-clonic seizure by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 4
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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_001184880.2(PCDH19):c.490dup (p.Gln164fs) rs1569315842
NM_001330260.2(SCN8A):c.5558A>C (p.Lys1853Thr) rs1410900258

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