ClinVar Miner

List of variants in gene ODAPH reported as pathogenic for amelogenesis imperfecta type 2

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_178497.3(C4orf26):c.318G>A rs146645381 0.00003
NM_178497.5(ODAPH):c.229C>T (p.Arg77Ter) rs866941536 0.00001
NM_178497.5(ODAPH):c.129C>A (p.Cys43Ter) rs1560562738
NM_178497.5(ODAPH):c.51_56delinsATGCTGGTTACTGGTA (p.Val18fs) rs1560558455
NM_178497.5(ODAPH):c.68-2A>T rs1560562630

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.