List of variants reported as likely pathogenic for amino acid metabolism disease by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000187.4(HGD):c.536T>G (p.Ile179Ser)	rs1031569954	0.00001
NM_000187.4(HGD):c.1114G>A (p.Gly372Arg)	rs1940645842
NM_000187.4(HGD):c.127C>G (p.Gln43Glu)	rs1243059404
NM_000187.4(HGD):c.131T>C (p.Leu44Pro)	rs1708095030
NM_000187.4(HGD):c.413G>A (p.Cys138Tyr)	rs1941316527
NM_000187.4(HGD):c.665C>A (p.Ala222Asp)	rs1576294110
NM_000187.4(HGD):c.753C>T (p.Gly251=)	rs1357020990
NM_000282.4(PCCA):c.1643+1_1643+2dup	rs1555425626
NM_000282.4(PCCA):c.1899+2_1899+3insCT	rs2081058900
NM_000532.5(PCCB):c.1091-8_1091-3del	rs1249235758
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser)	rs1553778909
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)	rs1599294284
NM_001330260.2(SCN8A):c.2668G>C (p.Ala890Pro)	rs879255702
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val)	rs1601071099

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.