ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NC_000002.11:g.(?_166847704)_(166930181_?)dup
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu) rs121917945
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr) rs121917915
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met) rs121917922
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760

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