ClinVar Miner

List of variants in gene combination CPT1A, LOC126861244 reported as uncertain significance for Carnitine palmitoyl transferase 1A deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln) rs757593086 0.00010
NM_001876.4(CPT1A):c.1352+6G>A rs541440067 0.00002
NM_001876.4(CPT1A):c.1199G>C (p.Gly400Ala) rs889632692 0.00001
NM_001876.4(CPT1A):c.1244C>T (p.Ala415Val) rs528019785 0.00001
NM_001876.4(CPT1A):c.1268C>T (p.Thr423Ile) rs1198520664 0.00001
NM_001876.4(CPT1A):c.1348G>A (p.Asp450Asn) rs745680805 0.00001
NM_001876.4(CPT1A):c.1165G>A (p.Val389Ile)
NM_001876.4(CPT1A):c.1183C>T (p.Arg395Cys) rs1451283997
NM_001876.4(CPT1A):c.1192T>C (p.Tyr398His) rs2153997934
NM_001876.4(CPT1A):c.1201C>T (p.Arg401Cys)
NM_001876.4(CPT1A):c.1252G>A (p.Val418Met)
NM_001876.4(CPT1A):c.1271AAG[1] (p.Glu425del) rs747376723
NM_001876.4(CPT1A):c.1301C>T (p.Thr434Met)
NM_001876.4(CPT1A):c.1325C>A (p.Ser442Tyr) rs2153997915

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.