ClinVar Miner

List of variants reported as likely pathogenic for Generalized epilepsy with febrile seizures plus, type 2 by Mendelics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.2589+3A>G rs794726775
NM_001165963.4(SCN1A):c.2624C>A (p.Thr875Lys) rs121918623
NM_001165963.4(SCN1A):c.2948T>G (p.Val983Gly) rs121918756
NM_001165963.4(SCN1A):c.323T>A (p.Leu108Gln) rs794726793
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu) rs794729200

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