ClinVar Miner

List of variants reported as uncertain significance for CHARGE association by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_017780.4(CHD7):c.*1644A>G rs886063053
NM_017780.4(CHD7):c.*1663_*1664AG[1] rs761460675
NM_017780.4(CHD7):c.*338del rs886063045
NM_017780.4(CHD7):c.-465_-463GCG[8] rs71245513
NM_017780.4(CHD7):c.-466_-461del rs886063025
NM_017780.4(CHD7):c.-466delinsGGCGGCAGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCAGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-467_-466insGGCAGC rs1554568913
NM_017780.4(CHD7):c.-490_-488GGC[10] rs886063023
NM_017780.4(CHD7):c.-490_-488GGC[9] rs886063023
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=) rs199675568
NM_017780.4(CHD7):c.4811G>C (p.Ser1604Thr) rs367722051
NM_017780.4(CHD7):c.6321C>T (p.His2107=) rs778800676
NM_017780.4(CHD7):c.892A>G (p.Thr298Ala) rs886063033
NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del) rs771806027

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.