List of variants in gene CNTNAP2 reported as likely benign by Genetic Services Laboratory, University of Chicago

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_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=)	rs9648691	0.57506
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=)	rs10240503	0.22240
NM_014141.6(CNTNAP2):c.1777+10A>G	rs2286127	0.20355
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.2256-6A>T	rs10240482	0.10641
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=)	rs61732853	0.01773
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=)	rs61732849	0.01075
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val)	rs34456867	0.00548
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=)	rs56356283	0.00340
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser)	rs143877693	0.00253
NM_014141.6(CNTNAP2):c.681C>T (p.His227=)	rs142984073	0.00236
NM_014141.6(CNTNAP2):c.3305T>C (p.Val1102Ala)	rs111599875	0.00235
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)	rs138481453	0.00096
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=)	rs149185385	0.00072
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=)	rs141078449	0.00054
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=)	rs141439475	0.00035
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=)	rs74354654	0.00029
NM_014141.6(CNTNAP2):c.755-5C>T	rs369675346	0.00010
NM_014141.6(CNTNAP2):c.939+8T>A	rs199994339	0.00008
NM_014141.6(CNTNAP2):c.3180G>A (p.Ala1060=)	rs372645983	0.00005
NM_014141.6(CNTNAP2):c.3783G>A (p.Ser1261=)	rs778395783	0.00003
NM_014141.6(CNTNAP2):c.1848T>C (p.Pro616=)	rs750082302	0.00002
NM_014141.6(CNTNAP2):c.3918C>T (p.Ser1306=)	rs774029348	0.00002
NM_014141.6(CNTNAP2):c.3678C>G (p.Ser1226=)	rs201219937
NM_014141.6(CNTNAP2):c.927C>T (p.Asp309=)	rs1268578810

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.