List of variants studied for disorder of tyrosine metabolism by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000137.4(FAH):c.82-13G>A	rs1370275	0.45099
NM_000137.4(FAH):c.267G>C (p.Leu89=)	rs33929922	0.07529
NM_000360.4(TH):c.684G>A (p.Glu228=)	rs11564716	0.00706
NM_000360.4(TH):c.16G>A (p.Ala6Thr)	rs74555599	0.00462
NM_000360.4(TH):c.267G>A (p.Arg89=)	rs76240471	0.00359
NM_000137.4(FAH):c.1259G>A (p.Ter420=)	rs61747586	0.00241

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.