ClinVar Miner

List of variants reported as pathogenic for Dravet syndrome by Baylor Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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GRCh37/hg19 9q33.3(chr9:129414011-129460757)
GRCh37/hg19 9q34.11(chr9:130335766-130517907)
NM_003165.4(STXBP1):c.170-2A>G rs1554776674
NM_003165.4(STXBP1):c.578+1G>A rs796053357
NM_003165.4(STXBP1):c.79G>T (p.Glu27Ter) rs1564346538
NM_006920.6(SCN1A):c.4514C>A (p.Ser1505Ter) rs139300715

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