ClinVar Miner

List of variants studied for Epilepsy by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.1234T>C (p.Phe412Leu)
NM_001165963.4(SCN1A):c.1294G>C (p.Ala432Pro) rs1697892980
NM_001165963.4(SCN1A):c.4216G>A (p.Ala1406Thr) rs1559127505
NM_001165963.4(SCN1A):c.5547_5548insGC (p.Ile1850fs)

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