ClinVar Miner

List of variants reported for CHARGE association by Institute of Human Genetics, University of Goettingen

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.1552C>T (p.Gln518Ter) rs1057519423
NM_017780.4(CHD7):c.2910_2925del (p.Glu970_Tyr971insTer) rs1554597507
NM_017780.4(CHD7):c.3522+1G>A rs1804369859
NM_017780.4(CHD7):c.4985del (p.Ser1662fs) rs1060499937
NM_017780.4(CHD7):c.4989C>A (p.Phe1663Leu) rs2150793254
NM_017780.4(CHD7):c.6292del (p.Arg2098fs) rs1060499560

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.