ClinVar Miner

List of variants in gene STXBP1 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.1607G>A (p.Arg536His) rs749244650 0.00001
NM_001032221.6(STXBP1):c.1763C>T (p.Thr588Ile) rs1346726468 0.00001
NM_001032221.6(STXBP1):c.257C>G (p.Ser86Cys) rs1182223011 0.00001
NM_001032221.6(STXBP1):c.298C>T (p.Arg100Trp) rs764758291 0.00001
NM_001032221.6(STXBP1):c.511C>T (p.Arg171Cys) rs201772971 0.00001
NM_001032221.6(STXBP1):c.1391G>A (p.Arg464Gln) rs1381421236
NM_001032221.6(STXBP1):c.1420C>G (p.Gln474Glu)
NM_001032221.6(STXBP1):c.1453A>G (p.Ile485Val)
NM_001032221.6(STXBP1):c.145G>C (p.Asp49His) rs1244732832
NM_001032221.6(STXBP1):c.1480C>T (p.Leu494Phe) rs1554778810
NM_001032221.6(STXBP1):c.1484A>G (p.Asp495Gly)
NM_001032221.6(STXBP1):c.1672C>A (p.Gln558Lys)
NM_001032221.6(STXBP1):c.268G>C (p.Asp90His) rs1840970680
NM_001032221.6(STXBP1):c.284C>T (p.Pro95Leu)
NM_001032221.6(STXBP1):c.311T>A (p.Val104Asp) rs1840975456
NM_001032221.6(STXBP1):c.429G>A (p.Gln143=) rs1841030849
NM_001032221.6(STXBP1):c.496A>G (p.Asn166Asp)
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001032221.6(STXBP1):c.635A>G (p.Tyr212Cys) rs1554777372
NM_001032221.6(STXBP1):c.679C>T (p.Arg227Cys)
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly) rs796053359
NM_001032221.6(STXBP1):c.887T>A (p.Ile296Asn)
NM_001032221.6(STXBP1):c.930T>G (p.Phe310Leu) rs1841466284
NM_001032221.6(STXBP1):c.963G>C (p.Lys321Asn) rs1554777932
NM_001032221.6(STXBP1):c.970A>G (p.Met324Val)

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.