List of variants in gene WDR72 reported as benign for amelogenesis imperfecta hypomaturation type 2A3

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

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_182758.4(WDR72):c.298A>G (p.Met100Val)	rs690346	0.95957
NM_182758.4(WDR72):c.955-43C>A	rs690235	0.95246
NM_182758.4(WDR72):c.339+9A>G	rs690337	0.73805
NM_182758.4(WDR72):c.1407T>C (p.Tyr469=)	rs6416452	0.59102
NM_182758.4(WDR72):c.917C>T (p.Pro306Leu)	rs551225	0.37615
NM_182758.4(WDR72):c.2455C>T (p.Leu819Phe)	rs17730281	0.21505
NM_182758.4(WDR72):c.1195A>C (p.Lys399Gln)	rs35258188	0.01531
NM_182758.4(WDR72):c.*2081C>T	rs74015391	0.01510
NM_182758.4(WDR72):c.*3225T>G	rs137867992	0.00044
NM_182758.4(WDR72):c.*3423A>C	rs74015386
NM_182758.4(WDR72):c.261-8del	rs34828731
NM_182758.4(WDR72):c.2872+42del	rs34829468

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.