List of variants in gene CHD7 reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)	rs587783429
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter)	rs1563625351
NM_017780.4(CHD7):c.2587C>T (p.Gln863Ter)	rs2150739058
NM_017780.4(CHD7):c.2609dup (p.Glu871fs)	rs1803756402
NM_017780.4(CHD7):c.2957+2T>C	rs2150749475
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter)	rs886040991
NM_017780.4(CHD7):c.5238C>G (p.Tyr1746Ter)	rs1554603151
NM_017780.4(CHD7):c.5405-7G>A	rs398124321
NM_017780.4(CHD7):c.6521_6525del (p.Lys2174fs)
NM_017780.4(CHD7):c.8081_8082dup (p.Val2695fs)	rs1806173661
NM_017780.4(CHD7):c.8606_8607del (p.Ser2869fs)

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.