ClinVar Miner

List of variants in gene STXBP1 reported as uncertain significance for obsolete Dravet syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_001032221.6(STXBP1):c.423A>T (p.Glu141Asp) rs1588309392
NM_003165.4(STXBP1):c.1680C>T (p.Asn560=) rs201809337
NM_003165.4(STXBP1):c.1756G>A (p.Asp586Asn) rs746172968
NM_003165.4(STXBP1):c.533C>T (p.Thr178Ile) rs1564350546
NM_003165.4(STXBP1):c.714C>A (p.Asp238Glu) rs587784456
NM_003165.6(STXBP1):c.430G>T (p.Val144Phe)

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