ClinVar Miner

List of variants in gene CPT1A reported as pathogenic for carnitine palmitoyl transferase 1A deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr) rs189174414 0.00020
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_001876.4(CPT1A):c.1163+1G>A rs148059333 0.00005
NM_001876.4(CPT1A):c.1386del (p.Phe462fs) rs753776604 0.00002
NM_001876.4(CPT1A):c.1792C>T (p.Arg598Ter) rs773153659 0.00001
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu) rs80356780 0.00001
NM_001876.4(CPT1A):c.281+1G>A rs191107774 0.00001
NM_001876.4(CPT1A):c.589G>T (p.Glu197Ter) rs1211665230 0.00001
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter) rs779893091 0.00001
NC_000011.9:g.(?_68525112)_(68582942_?)del
NC_000011.9:g.(?_68527017)_(68527826_?)del
NC_000011.9:g.(?_68548098)_(68548223_?)del
NC_000011.9:g.(?_68560773)_(68562389_?)del
NC_000011.9:g.(?_68564314)_(68564411_?)del
NC_000011.9:g.(?_68571458)_(68582952_?)del
NM_001031847.2(CPT1A):c.(?_1744)_2107del (p.Met582Glnfs)
NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro) rs398123653
NM_001876.4(CPT1A):c.1015C>T (p.Arg339Ter) rs1435045544
NM_001876.4(CPT1A):c.1039dup (p.Leu347fs)
NM_001876.4(CPT1A):c.1079A>G (p.Glu360Gly) rs80356787
NM_001876.4(CPT1A):c.1093dup (p.Arg365fs)
NM_001876.4(CPT1A):c.1163+2T>C rs1555229059
NM_001876.4(CPT1A):c.122del (p.Lys41fs) rs1856354768
NM_001876.4(CPT1A):c.1361A>G (p.Asp454Gly) rs80356778
NM_001876.4(CPT1A):c.1367C>A (p.Ser456Ter) rs1478167106
NM_001876.4(CPT1A):c.1435_1441del (p.Pro479fs)
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys) rs80356791
NM_001876.4(CPT1A):c.1493del (p.Tyr498fs)
NM_001876.4(CPT1A):c.151dup (p.Ile51fs)
NM_001876.4(CPT1A):c.1520_1529dup (p.Asn511fs)
NM_001876.4(CPT1A):c.1573dup (p.Glu525fs) rs1855113733
NM_001876.4(CPT1A):c.1575+533_1575+534del rs1169875761
NM_001876.4(CPT1A):c.1618del (p.Leu540fs)
NM_001876.4(CPT1A):c.165C>A (p.Tyr55Ter)
NM_001876.4(CPT1A):c.1662del (p.Phe554fs)
NM_001876.4(CPT1A):c.1670dup (p.Ile558fs)
NM_001876.4(CPT1A):c.1709_1710del (p.Val570fs) rs2153996775
NM_001876.4(CPT1A):c.1762_1766dup (p.Tyr589Ter) rs2153995212
NM_001876.4(CPT1A):c.1767C>A (p.Tyr589Ter)
NM_001876.4(CPT1A):c.1767C>G (p.Tyr589Ter)
NM_001876.4(CPT1A):c.1796_1797del (p.Glu599fs)
NM_001876.4(CPT1A):c.1839C>A (p.Cys613Ter)
NM_001876.4(CPT1A):c.1855del (p.Met619fs)
NM_001876.4(CPT1A):c.1876-1G>A rs80356798
NM_001876.4(CPT1A):c.1879G>T (p.Glu627Ter)
NM_001876.4(CPT1A):c.1882_1885del (p.Gln628fs)
NM_001876.4(CPT1A):c.1895T>A (p.Leu632Ter) rs2153995016
NM_001876.4(CPT1A):c.1925del (p.His642fs)
NM_001876.4(CPT1A):c.1984dup (p.Val662fs) rs2153994995
NM_001876.4(CPT1A):c.1997_1998insAAAA (p.Tyr666Ter) rs1057516800
NM_001876.4(CPT1A):c.2018_2022del (p.Pro672_Phe673insTer) rs1163935346
NM_001876.4(CPT1A):c.2050_2051del (p.Leu684fs)
NM_001876.4(CPT1A):c.2062C>T (p.Gln688Ter)
NM_001876.4(CPT1A):c.2071C>T (p.Gln691Ter) rs765161206
NM_001876.4(CPT1A):c.2126G>A (p.Gly709Glu) rs28936374
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter) rs398123654
NM_001876.4(CPT1A):c.222C>G (p.Tyr74Ter)
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter) rs80356774
NM_001876.4(CPT1A):c.2T>G (p.Met1Arg)
NM_001876.4(CPT1A):c.405G>A (p.Trp135Ter)
NM_001876.4(CPT1A):c.465del (p.Ile156fs) rs1855979917
NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter) rs80356782
NM_001876.4(CPT1A):c.530del (p.Pro177fs) rs2154000550
NM_001876.4(CPT1A):c.539_540del (p.Lys180fs) rs1319341024
NM_001876.4(CPT1A):c.544_545del (p.Thr182fs) rs2154000546
NM_001876.4(CPT1A):c.562C>T (p.Gln188Ter)
NM_001876.4(CPT1A):c.657G>A (p.Trp219Ter)
NM_001876.4(CPT1A):c.668T>G (p.Leu223Ter) rs2154000188
NM_001876.4(CPT1A):c.704G>A (p.Trp235Ter)
NM_001876.4(CPT1A):c.717C>G (p.Tyr239Ter)
NM_001876.4(CPT1A):c.733C>T (p.Arg245Ter) rs767241290
NM_001876.4(CPT1A):c.740C>T (p.Pro247Leu)
NM_001876.4(CPT1A):c.742del (p.Leu248fs) rs2154000018
NM_001876.4(CPT1A):c.76G>T (p.Glu26Ter) rs2154001364
NM_001876.4(CPT1A):c.924G>A (p.Trp308Ter) rs2153999602
NM_001876.4(CPT1A):c.948del (p.Ile317fs) rs80356800
NM_001876.4(CPT1A):c.99_102del (p.Ser34fs)

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.