ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as likely pathogenic by NeuroMeGen,Hospital Clinico Santiago de Compostela

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Total variants: 5
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HGVS dbSNP
NC_000002.11:g.(?_166847704)_(166930181_?)dup
NM_006920.6(SCN1A):c.4319C>T (p.Pro1440Leu) rs121917945
NM_006920.6(SCN1A):c.4789G>T (p.Asp1597Tyr) rs121917915
NM_006920.6(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922
NM_006920.6(SCN1A):c.4964C>T (p.Ser1655Phe) rs794726760

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