List of variants in gene PAX2 reported as benign for idiopathic disease

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001304569.2(PAX2):c.25+31A>G	rs4919486	0.79471
NM_000278.5(PAX2):c.909A>C (p.Pro303=)	rs1800898	0.40586
NM_000278.5(PAX2):c.43+43C>A	rs4405241	0.37380
NM_000278.5(PAX2):c.798C>T (p.Asn266=)	rs1800897	0.12916
NM_000278.5(PAX2):c.792+9G>A	rs79552202	0.00974
NM_000278.5(PAX2):c.360C>T (p.Ala120=)	rs41291450	0.00270
NM_000278.5(PAX2):c.213-8C>T	rs369615430	0.00101
NM_000278.5(PAX2):c.819G>C (p.Leu273=)	rs144433354	0.00090
NM_000278.5(PAX2):c.212+12G>A	rs546505132	0.00048
NM_000278.5(PAX2):c.963C>T (p.His321=)	rs138750534	0.00024
NM_000278.5(PAX2):c.213-5C>T	rs767757944	0.00007
NM_000278.5(PAX2):c.1021+193G>A	rs145911423	0.00006
NM_000278.5(PAX2):c.920-12G>A	rs775815946	0.00006
NM_000278.5(PAX2):c.43+13G>T	rs763464165	0.00003
NM_000278.5(PAX2):c.1021+141C>A	rs530216201	0.00001
NM_000278.5(PAX2):c.1140_1142= (p.Arg380_Gly381=)
NM_000278.5(PAX2):c.43+10G>C	rs4472867
NM_000278.5(PAX2):c.846G>A (p.Ser282=)

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.