List of variants in gene combination CHD7, LOC126860403 reported as pathogenic by GeneDx

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.1714C>T (p.Gln572Ter)	rs886039527
NM_017780.4(CHD7):c.1797del (p.Lys601fs)	rs1085307830
NM_017780.4(CHD7):c.1803_1806del (p.Lys602fs)	rs1554588671
NM_017780.4(CHD7):c.1882G>T (p.Glu628Ter)
NM_017780.4(CHD7):c.1925dup (p.Lys643fs)
NM_017780.4(CHD7):c.1953dup (p.Asp652fs)	rs2150669843
NM_017780.4(CHD7):c.2052del (p.Ala685fs)	rs1064794040
NM_017780.4(CHD7):c.2086A>T (p.Lys696Ter)	rs1554588769
NM_017780.4(CHD7):c.2095A>G (p.Ser699Gly)	rs2487541533

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.