List of variants reported as uncertain significance for inborn disorder of amino acid metabolism by Undiagnosed Diseases Network, NIH

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala)	rs139373929	0.00024
NM_000360.4(TH):c.604C>T (p.Arg202Cys)	rs1021029193	0.00001
NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr)	rs760851100	0.00001
NM_000161.3(GCH1):c.704G>A (p.Arg235Gln)	rs1555358380
NM_000360.4(TH):c.487+118G>A
NM_004408.4(DNM1):c.1493+5G>A	rs752004261
NM_058004.4(PI4KA):c.1852C>T (p.Arg618Ter)	rs201395198
NM_058004.4(PI4KA):c.4990G>A (p.Asp1664Asn)
Single allele

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.