ClinVar Miner

List of variants reported as pathogenic for Severe myoclonic epilepsy in infancy by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 4
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NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.4002+2451G>C rs869312684
NM_006920.6(SCN1A):c.2556+3A>T rs794726775
NM_006920.6(SCN1A):c.3671del (p.Leu1224fs) rs869312670

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