List of variants reported as pathogenic for amino acid metabolism disease by Genome Diagnostics Laboratory, University Medical Center Utrecht

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	rs145138923	0.00120
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)	rs5030858	0.00092
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)	rs5030857	0.00057
NM_000277.3(PAH):c.734T>C (p.Val245Ala)	rs76212747	0.00049
NM_000277.3(PAH):c.1315+1G>A	rs5030861	0.00040
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_000277.3(PAH):c.688G>A (p.Val230Ile)	rs62516152	0.00029
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)	rs5030860	0.00025
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)	rs62508698	0.00009
NM_000048.4(ASL):c.446+1G>A	rs142637046	0.00008
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)	rs199475575	0.00003
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)	rs62507336	0.00001
NM_000277.3(PAH):c.941C>A (p.Pro314His)	rs62642940	0.00001

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.