ClinVar Miner

List of variants studied for Dravet syndrome by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_003165.3(STXBP1):c.325+2_325+3del rs1554776853
NM_006920.6(SCN1A):c.2382+2T>C

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