ClinVar Miner

List of variants in gene ITGB6 reported as pathogenic for dental enamel hypoplasia

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000888.5(ITGB6):c.427G>A (p.Ala143Thr) rs140015315 0.00010
NM_000888.5(ITGB6):c.1846C>T (p.Arg616Ter) rs730880297 0.00002
NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr) rs730880298
NM_000888.5(ITGB6):c.625G>T (p.Gly209Ter) rs561588576
NM_000888.5(ITGB6):c.825T>A (p.His275Gln) rs730882118

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.