ClinVar Miner

List of variants studied for Carnitine palmitoyl transferase 1A deficiency by GeneReviews

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738 0.05682
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_001876.4(CPT1A):c.946C>G (p.Arg316Gly) rs80356796 0.00003
NM_001876.4(CPT1A):c.1027T>G (p.Phe343Val) rs80356783 0.00001
NM_001876.4(CPT1A):c.1069C>T (p.Arg357Trp) rs80356777 0.00001
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu) rs80356780 0.00001
NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys) rs80356775 0.00001
NM_001031847.2(CPT1A):c.(?_1744)_2107del (p.Met582Glnfs)
NM_001876.4(CPT1A):c.1079A>G (p.Glu360Gly) rs80356787
NM_001876.4(CPT1A):c.1241C>T (p.Ala414Val) rs80356790
NM_001876.4(CPT1A):c.1361A>G (p.Asp454Gly) rs80356778
NM_001876.4(CPT1A):c.1393G>T (p.Gly465Trp) rs80356784
NM_001876.4(CPT1A):c.1395G>T (p.Gly465=) rs774577615
NM_001876.4(CPT1A):c.1425G>A (p.Trp475Ter) rs80356794
NM_001876.4(CPT1A):c.1451T>C (p.Leu484Pro) rs80356793
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys) rs80356791
NM_001876.4(CPT1A):c.1494T>A (p.Tyr498Ter) rs80356795
NM_001876.4(CPT1A):c.1600del (p.Ser533_Leu534insTer) rs80356801
NM_001876.4(CPT1A):c.1737C>A (p.Tyr579Ter) rs80356785
NM_001876.4(CPT1A):c.2028+3_2028+6del rs80356799
NM_001876.4(CPT1A):c.2126G>A (p.Gly709Glu) rs28936374
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter) rs80356774
NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter) rs80356782
NM_001876.4(CPT1A):c.912C>G (p.Cys304Trp) rs80356789
NM_001876.4(CPT1A):c.941C>T (p.Thr314Ile) rs80356776
NM_001876.4(CPT1A):c.948del (p.Ile317fs) rs80356800
NM_001876.4(CPT1A):c.96T>G (p.Tyr32Ter) rs80356786

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.