List of variants in gene PAX8 reported by CeGaT Center for Human Genetics Tuebingen

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003466.4(PAX8):c.985T>C (p.Phe329Leu)	rs3188996	0.01628
NM_003466.4(PAX8):c.1143C>T (p.Ser381=)	rs145036350	0.00516
NM_003466.4(PAX8):c.1317A>G (p.Ala439=)	rs368201100	0.00299
NM_003466.4(PAX8):c.885C>T (p.Tyr295=)	rs112872760	0.00293
NM_003466.4(PAX8):c.1189+15G>A	rs149585280	0.00262
NM_003466.4(PAX8):c.404A>G (p.Lys135Arg)	rs190431939	0.00146
NM_003466.4(PAX8):c.*2276G>A	rs189067014	0.00135
NM_003466.4(PAX8):c.1226C>G (p.Pro409Arg)	rs369313070	0.00001
NM_003466.4(PAX8):c.97C>T (p.Arg33Cys)	rs776315252	0.00001
NM_003466.4(PAX8):c.136G>A (p.Asp46Asn)

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.