ClinVar Miner

List of variants in gene RELT studied for amelogenesis imperfecta

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152222.2(RELT):c.1264C>T (p.Arg422Trp) rs139368769 0.00108
NM_152222.2(RELT):c.1169_1170del (p.Pro390fs) rs772929908 0.00004
NM_152222.2(RELT):c.121-2A>G rs1565222166
NM_152222.2(RELT):c.1265G>C (p.Arg422Pro) rs762816338
NM_152222.2(RELT):c.164C>T (p.Thr55Ile) rs1866200282
NM_152222.2(RELT):c.260A>T (p.Asp87Val)
NM_152222.2(RELT):c.521T>G (p.Leu174Arg)

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.