ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as pathogenic by Neurogenetics Laboratory - MEYER,AOU Meyer

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Total variants: 3
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NM_006920.6(SCN1A):c.3657dup (p.Ser1220Ter) rs1057519534
NM_006920.6(SCN1A):c.4787_4788del (p.Ile1595_Phe1596insTer) rs796053083
NM_006920.6(SCN1A):c.4901G>A (p.Arg1634Gln) rs121917976

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