List of variants reported as benign for Wilson disease by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)	rs1801249	0.57256
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)	rs732774	0.56484
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)	rs1061472	0.54674
NM_000053.4(ATP7B):c.3903+6C>T	rs2282057	0.53754
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu)	rs1801244	0.41941
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)	rs1801243	0.41549
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)	rs7334118	0.02828

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.