ClinVar Miner

List of variants reported as pathogenic for Dravet syndrome by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_003165.4(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_006920.6(SCN1A):c.2556+3A>T rs794726775
NM_006920.6(SCN1A):c.3604C>T (p.Arg1202Ter) rs794726710
NM_006920.6(SCN1A):c.3671del (p.Leu1224fs) rs869312670

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