List of variants in gene CHD7 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 8q12.2(chr8:61750227-61750394)x3
NM_017780.4(CHD7):c.3226A>G (p.Lys1076Glu)	rs1804153455
NM_017780.4(CHD7):c.3383del (p.His1128fs)	rs2150761067
NM_017780.4(CHD7):c.5436C>A (p.Asp1812Glu)	rs1586440484
NM_017780.4(CHD7):c.7814_7815del (p.Met2605fs)	rs1805949598
NM_017780.4(CHD7):c.8580_8581insT (p.Thr2861fs)

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.