List of variants in gene DNAAF2, MGAT2 studied for Primary ciliary dyskinesia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018139.3(DNAAF2):c.*328A>T	rs12160	0.69631
NM_018139.3(DNAAF2):c.2303A>G (p.Asp768Gly)	rs9989177	0.40851
NM_002408.4(MGAT2):c.-234T>C	rs7519	0.39580
NM_018139.3(DNAAF2):c.*126T>A	rs8952	0.26193
NM_002408.4(MGAT2):c.261G>T (p.Leu87=)	rs2228449	0.01763
NM_002408.4(MGAT2):c.-351G>T	rs116136260	0.00168

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.