ClinVar Miner

List of variants reported as pathogenic for Dravet syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_001032221.3(STXBP1):c.754_755del (p.Met252Glufs) rs587784454
NM_001032221.3(STXBP1):c.87+2T>C rs1554775960
NM_003165.3(STXBP1):c.1029+1G>C rs727504173
NM_003165.3(STXBP1):c.704G>A (p.Arg235Gln) rs794727970

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