ClinVar Miner

List of variants studied for Severe myoclonic epilepsy in infancy by School of Medicine NGS Core Facility, Fu Jen Catholic University

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.1134_1136del (p.Met379del) rs2105867004
NM_001165963.4(SCN1A):c.181del (p.Leu61fs) rs2105982815
NM_001165963.4(SCN1A):c.4378del (p.Tyr1460fs) rs2105476550
NM_001165963.4(SCN1A):c.5540_5543dup (p.Gln1848fs) rs2105426446

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