List of variants in gene PUS1 reported as benign for not specified

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_025215.6(PUS1):c.*16C>T	rs116003934	0.01667
NM_025215.6(PUS1):c.999G>C (p.Leu333=)	rs150359622	0.00323
NM_025215.6(PUS1):c.621G>A (p.Thr207=)	rs142044204	0.00320
NM_025215.6(PUS1):c.22C>T (p.Leu8=)	rs139227671	0.00222
NM_025215.6(PUS1):c.1197C>T (p.Phe399=)	rs35461276	0.00193
NM_025215.6(PUS1):c.1140C>T (p.Thr380=)	rs138198591	0.00098
NM_025215.6(PUS1):c.456C>G (p.Ala152=)	rs369170782	0.00044
NM_025215.6(PUS1):c.984G>A (p.Ala328=)	rs143660941	0.00005
NM_025215.6(PUS1):c.1221T>G (p.Gly407=)	rs587781134

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.