List of variants in gene TNXB reported as benign for Ehlers-Danlos syndrome due to tenascin-X deficiency

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001365276.2(TNXB):c.7553G>A (p.Gly2518Glu)	rs1009382	0.68787
NM_001365276.2(TNXB):c.7440T>C (p.Tyr2480=)	rs204887	0.63524
NM_001365276.2(TNXB):c.7251A>G (p.Leu2417=)	rs204886	0.53630
NM_001365276.2(TNXB):c.3482A>G (p.His1161Arg)	rs185819	0.51248
NM_001365276.2(TNXB):c.6696C>T (p.Asp2232=)	rs204883	0.37626
NM_001365276.2(TNXB):c.6842-24C>T	rs2239689	0.25409
NM_001365276.2(TNXB):c.6024A>G (p.Thr2008=)	rs61744966	0.01027
NM_001365276.2(TNXB):c.7297G>A (p.Val2433Ile)	rs17207902	0.00594
NM_001365276.2(TNXB):c.2373C>T (p.Ser791=)	rs112581362	0.00587
NM_001365276.2(TNXB):c.1469G>A (p.Arg490Gln)	rs118086587	0.00554
NM_001365276.2(TNXB):c.7704T>C (p.Val2568=)	rs370919547	0.00243
NM_001365276.2(TNXB):c.909C>G (p.Gly303=)	rs111244635	0.00214
NM_001365276.2(TNXB):c.7051G>A (p.Gly2351Arg)	rs201638755	0.00166
NM_001365276.2(TNXB):c.86G>A (p.Arg29Gln)	rs184878358	0.00060
NM_001365276.2(TNXB):c.2516-17_2516-15del	rs199775035

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.