List of variants in gene STXBP1 reported by Athena Diagnostics Inc

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.846C>T (p.Asp282=)	rs58889246	0.05156
NM_001032221.6(STXBP1):c.38-3T>C	rs138763389	0.01315
NM_001032221.6(STXBP1):c.247-8A>G	rs199827018	0.00325
NM_001032221.6(STXBP1):c.325+8C>T	rs117372398	0.00310
NM_001032221.6(STXBP1):c.627C>T (p.Leu209=)	rs567071026	0.00021
NM_001032221.6(STXBP1):c.1385C>T (p.Pro462Leu)	rs752394761	0.00007
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=)	rs370249358	0.00006
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=)	rs201302013	0.00006
NM_001032221.6(STXBP1):c.281C>T (p.Pro94Leu)	rs200802985	0.00005
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)	rs796053373
NM_001032221.6(STXBP1):c.193A>G (p.Arg65Gly)	rs1564348737

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.