ClinVar Miner

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

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Total variants: 82
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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)_(68530249_?)del
NC_000011.9:g.(?_68525112)_(68549447_?)del
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.(?_68571448)_(68575126_?)del
NC_000011.9:g.(?_68571458)_(68582952_?)del
NC_000011.9:g.(?_68579885)_(68582942_?)del
NC_000011.9:g.(?_68582782)_(68582942_?)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)

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