ClinVar Miner

List of variants in gene STXBP1 reported as likely pathogenic for Dravet syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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NM_001032221.6(STXBP1):c.122T>A (p.Leu41Gln)
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu)
NM_001032221.6(STXBP1):c.303_305del (p.Ala102del)
NM_001032221.6(STXBP1):c.308A>C (p.His103Pro)
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg)
NM_003165.3(STXBP1):c.325+2_325+3del rs1554776853
NM_003165.4(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_003165.4(STXBP1):c.1651C>A (p.Arg551Ser) rs796053373
NM_003165.4(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_003165.4(STXBP1):c.433T>C (p.Tyr145His) rs587784455
NM_003165.4(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_003165.4(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_003165.4(STXBP1):c.791A>G (p.Tyr264Cys) rs1316686443

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