ClinVar Miner

List of variants in gene CLPB reported as pathogenic for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NC_000011.9:g.(?_72004391)_(72145538_?)del
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile) rs786205137
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460
NM_001258392.3(CLPB):c.1167+5G>T rs1565424666
NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro)
NM_001258392.3(CLPB):c.1366T>C (p.Cys456Arg) rs886041118
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys) rs748915609
NM_001258392.3(CLPB):c.1595del (p.Ile532fs) rs876657402
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val) rs748010262
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys) rs786205138
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959
NM_001258392.3(CLPB):c.1825G>A (p.Glu609Lys) rs375934856
NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val) rs759500860
NM_001258392.3(CLPB):c.1847dup (p.Cys617fs) rs886041119
NM_001258392.3(CLPB):c.1955T>A (p.Ile652Asn) rs886041120
NM_001258392.3(CLPB):c.646+7323G>T
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter) rs777202372
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855
NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr) rs886041117
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys) rs777313457
NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter) rs786205139

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.