ClinVar Miner

List of variants studied for amelogenesis imperfecta type 1 by Leeds Amelogenesis Imperfecta Research Group, University of Leeds

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter) rs1553275195
NM_000228.3(LAMB3):c.3383-1G>A rs1553275070
NM_031889.3(ENAM):c.92T>G (p.Leu31Arg) rs1060499539
NM_033068.3(ACP4):c.428C>T (p.Thr143Met) rs546603773
NM_033068.3(ACP4):c.746C>T (p.Pro249Leu) rs1085307111

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.