List of variants in gene STX11 reported as benign for hereditary hemophagocytic lymphohistiocytosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003764.4(STX11):c.*1793A>C	rs4896705	0.28310
NM_003764.4(STX11):c.*2298C>T	rs3734227	0.27040
NM_003764.4(STX11):c.*4373T>A	rs6935462	0.11781
NM_003764.4(STX11):c.*882T>C	rs17073503	0.11734
NM_003764.4(STX11):c.*70G>A	rs3734228	0.11488
NM_003764.4(STX11):c.*1525A>G	rs7772146	0.10958
NM_003764.4(STX11):c.*4361C>T	rs6912580	0.08817
NM_003764.4(STX11):c.829A>G (p.Thr277Ala)	rs9496891	0.03773
NM_003764.4(STX11):c.*606C>G	rs111644678	0.01630
NM_003764.4(STX11):c.*2786T>C	rs60634096	0.01029
NM_003764.4(STX11):c.*3345T>C	rs75873182	0.01026
NM_003764.4(STX11):c.*4141G>A	rs57069580	0.00937
NM_003764.4(STX11):c.146G>A (p.Arg49Gln)	rs17073498	0.00814
NM_003764.4(STX11):c.*1150A>G	rs183348903	0.00708
NM_003764.4(STX11):c.*3780C>T	rs17073509	0.00562
NM_003764.4(STX11):c.799G>A (p.Val267Met)	rs45574234	0.00545
NM_003764.4(STX11):c.*1335G>A	rs148458308	0.00479
NM_003764.4(STX11):c.*3749T>C	rs17073506	0.00384
NM_003764.4(STX11):c.*3855A>G	rs78595542	0.00325
NM_003764.4(STX11):c.546G>A (p.Glu182=)	rs146949718	0.00274
NM_003764.4(STX11):c.839G>A (p.Cys280Tyr)	rs34282765	0.00215
NM_003764.4(STX11):c.*3599A>G	rs117017297	0.00187
NM_003764.4(STX11):c.681C>T (p.Leu227=)	rs145774130	0.00073
NM_003764.4(STX11):c.*1221dup	rs397725572
NM_003764.4(STX11):c.*3214C>G	rs11963744
NM_003764.4(STX11):c.*4054dup	rs397795966

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.