List of variants in gene CHD7 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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: 22

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.1018A>G (p.Met340Val)	rs41305525	0.00505
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val)	rs45521933	0.00176
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=)	rs79203206	0.00160
NM_017780.4(CHD7):c.1419G>C (p.Gly473=)	rs186394299	0.00144
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=)	rs34527521	0.00100
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)	rs61978638	0.00083
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro)	rs754894988	0.00075
NM_017780.4(CHD7):c.2829G>A (p.Glu943=)	rs374877439	0.00051
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=)	rs202020722	0.00048
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser)	rs202039728	0.00029
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser)	rs199614124	0.00026
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=)	rs61743849	0.00021
NM_017780.4(CHD7):c.5607+11G>A	rs369304706	0.00013
NM_017780.4(CHD7):c.8196C>T (p.Ala2732=)	rs375800664	0.00013
NM_017780.4(CHD7):c.8412G>A (p.Ala2804=)	rs200747690	0.00008
NM_017780.4(CHD7):c.8718C>T (p.Ser2906=)	rs372889781	0.00008
NM_017780.4(CHD7):c.4659T>A (p.Ile1553=)	rs748644473	0.00007
NM_017780.4(CHD7):c.6468C>T (p.Val2156=)	rs777858802	0.00003
NM_017780.4(CHD7):c.8594C>T (p.Ser2865Leu)	rs147534616	0.00002
NM_017780.4(CHD7):c.1566C>T (p.Gly522=)	rs759347960	0.00001
NM_017780.4(CHD7):c.176C>G (p.Thr59Ser)	rs548706525	0.00001
NM_017780.4(CHD7):c.7233C>T (p.Ala2411=)	rs771141688	0.00001

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.