ClinVar Miner

List of variants in gene CHD2 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.1652_1653dup (p.Phe552fs) rs886041628
NM_001271.4(CHD2):c.231_234dup (p.Leu79fs) rs2053019508
NM_001271.4(CHD2):c.2666G>A (p.Trp889Ter) rs2053935397
NM_001271.4(CHD2):c.3571C>T (p.Gln1191Ter) rs2054139802
NM_001271.4(CHD2):c.4985_4986dup (p.His1663fs) rs2054514812
NM_001271.4(CHD2):c.982C>T (p.Gln328Ter) rs1085307766

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.