ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as pathogenic by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3704del (p.Leu1235fs) rs869312670
NM_001165963.4(SCN1A):c.4002+2451G>C rs869312684

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