ClinVar Miner

List of variants reported as likely benign for Dravet syndrome by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_003165.3(STXBP1):c.1548C>T (p.Ser516=) rs145304925
NM_003165.3(STXBP1):c.1702+10C>T rs147607230
NM_003165.3(STXBP1):c.247-8A>G rs199827018
NM_003165.3(STXBP1):c.325+8C>T rs117372398
NM_003165.3(STXBP1):c.902+10C>T rs760108945

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