List of variants reported as likely benign for CTNND2-related disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_001332.4(CTNND2):c.37+7T>G	rs2305933	0.00263
NM_001332.4(CTNND2):c.2001C>T (p.Cys667=)	rs149766664	0.00057
NM_001332.4(CTNND2):c.3129C>T (p.Ile1043=)	rs371262927	0.00026
NM_001332.4(CTNND2):c.2403G>A (p.Lys801=)	rs377601281	0.00013
NM_001332.4(CTNND2):c.3663C>T (p.Pro1221=)	rs377570490	0.00004
NM_001332.4(CTNND2):c.2931C>T (p.Asn977=)	rs770835265	0.00003
NM_001332.4(CTNND2):c.1545A>G (p.Pro515=)	rs747089324	0.00002
NM_001332.4(CTNND2):c.2142C>T (p.Asn714=)	rs779779196	0.00002
NM_001332.4(CTNND2):c.3212-9T>C	rs1478476134	0.00001
NM_001332.4(CTNND2):c.1444G>A (p.Ala482Thr)	rs61750706
NM_001332.4(CTNND2):c.1480G>A (p.Gly494Ser)	rs34001856
NM_001332.4(CTNND2):c.3343+7G>A
NM_001332.4(CTNND2):c.3343+8C>T	rs751623383
NM_001332.4(CTNND2):c.656CGC[11] (p.Pro224_Pro226dup)	rs557341981
NM_001332.4(CTNND2):c.735CGC[8] (p.Ala250_Ala251dup)	rs578098885

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.