List of variants reported as pathogenic for amelogenesis imperfecta type 1E by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001142.2(AMELX):c.110C>T (p.Thr37Ile)	rs104894733
NM_001142.2(AMELX):c.113del (p.Pro38fs)	rs387906487
NM_001142.2(AMELX):c.11G>C (p.Trp4Ser)	rs104894738
NM_001142.2(AMELX):c.14_22del (p.Ile5_Ala8delinsThr)	rs387906488
NM_001142.2(AMELX):c.166C>A (p.Pro56Thr)	rs104894736
NM_001142.2(AMELX):c.2T>C (p.Met1Thr)	rs104894737
NM_001142.2(AMELX):c.378del (p.Tyr127fs)	rs387906491
NM_001142.2(AMELX):c.431del (p.Pro144fs)	rs387906489
NM_001142.2(AMELX):c.499del (p.Leu167fs)	rs387906490
NM_001142.2(AMELX):c.529G>T (p.Glu177Ter)	rs104894734
NM_001287242.1(ARHGAP6):c.49-45951_49-41228del

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.