ClinVar Miner

List of variants reported as pathogenic for amino acid or protein metabolism disease with epilepsy by GeneReviews

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.1691G>T (p.Ser564Ile) rs121964974
NM_000170.2(GLDC):c.2284G>A (p.Gly762Arg) rs386833550
NM_000277.3(PAH):c.1066-11G>A rs5030855
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858
NM_000277.3(PAH):c.1315+1G>A rs5030861
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000481.3(AMT):c.878-1G>A rs181134220
NM_000481.4(AMT):c.125A>G (p.His42Arg) rs121964983
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985
NM_001024845.3(SLC6A9):c.1000A>G (p.Ser334Gly) rs1057519313
NM_001024845.3(SLC6A9):c.1498C>T (p.Gln500Ter) rs1057519314
NM_001024845.3(SLC6A9):c.709_713del (p.Lys237fs) rs1057519315
NM_001032386.2(SUOX):c.1200C>G (p.Tyr400Ter) rs747461754
NM_001032386.2(SUOX):c.1280_1281delinsAC (p.Ser427Tyr) rs1565799723
NM_001032386.2(SUOX):c.1589G>A (p.Gly530Asp) rs121908009
NM_001032386.2(SUOX):c.520del (p.Asp174fs) rs1565798380
NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln) rs121908007
NM_001032386.2(SUOX):c.794C>A (p.Ala265Asp) rs121908008

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.