ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A studied for Hypertelorism; Megalencephaly; Sudden death; Seizures; Febrile seizures; Gliosis; Frontal bossing; Polymicrogyria; Abnormality of neuronal migration; Death in childhood; Hemimegalencephaly

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 1
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NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs) rs1559193213

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