List of variants in gene CNTNAP2 reported as benign by Ambry Genetics

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=)	rs9648691	0.57506
NM_014141.6(CNTNAP2):c.551-11_551-10insG	rs35167289	0.42413
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=)	rs10240503	0.22240
NM_014141.6(CNTNAP2):c.3248-4A>G	rs3779031	0.18203
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=)	rs34592169	0.17471
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=)	rs2286128	0.03626
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=)	rs61732853	0.01773
NM_014141.6(CNTNAP2):c.1119G>A (p.Thr373=)	rs73471053	0.00970
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val)	rs34456867	0.00548
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu)	rs138517537

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.