ClinVar Miner

List of variants reported as likely pathogenic for Dravet syndrome by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_003165.4(STXBP1):c.1651C>A (p.Arg551Ser) rs796053373

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