ClinVar Miner

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

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Total variants: 50
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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.1027T>G (p.Phe343Val) rs80356783 0.00001
NM_001876.4(CPT1A):c.1069C>T (p.Arg357Trp) rs80356777 0.00001
NM_001876.4(CPT1A):c.1792C>T (p.Arg598Ter) rs773153659 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
NM_001876.4(CPT1A):c.1011C>A (p.Tyr337Ter)
NM_001876.4(CPT1A):c.1015C>T (p.Arg339Ter) rs1435045544
NM_001876.4(CPT1A):c.1018G>T (p.Gly340Ter)
NM_001876.4(CPT1A):c.1037G>A (p.Trp346Ter)
NM_001876.4(CPT1A):c.1163+2T>C rs1555229059
NM_001876.4(CPT1A):c.1213A>T (p.Lys405Ter)
NM_001876.4(CPT1A):c.1328dup (p.Leu444fs) rs2153997913
NM_001876.4(CPT1A):c.1339C>T (p.Arg447Ter) rs397515543
NM_001876.4(CPT1A):c.1347C>G (p.Tyr449Ter)
NM_001876.4(CPT1A):c.1459-1G>A rs1057517046
NM_001876.4(CPT1A):c.1489_1490dup (p.Tyr498fs)
NM_001876.4(CPT1A):c.1573G>T (p.Glu525Ter)
NM_001876.4(CPT1A):c.1575+1G>T
NM_001876.4(CPT1A):c.16C>T (p.Gln6Ter)
NM_001876.4(CPT1A):c.1740+1G>T
NM_001876.4(CPT1A):c.1762_1766dup (p.Tyr589Ter) rs2153995212
NM_001876.4(CPT1A):c.1835C>G (p.Ser612Ter)
NM_001876.4(CPT1A):c.1876-1G>A rs80356798
NM_001876.4(CPT1A):c.1879G>T (p.Glu627Ter)
NM_001876.4(CPT1A):c.1977C>A (p.Cys659Ter)
NM_001876.4(CPT1A):c.2015del (p.Pro672fs)
NM_001876.4(CPT1A):c.2018_2022del (p.Pro672_Phe673insTer) rs1163935346
NM_001876.4(CPT1A):c.2028+2T>G rs1555226417
NM_001876.4(CPT1A):c.2029-1G>C
NM_001876.4(CPT1A):c.2047A>T (p.Arg683Ter)
NM_001876.4(CPT1A):c.2136del (p.Phe712fs)
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter) rs398123654
NM_001876.4(CPT1A):c.281+1G>T
NM_001876.4(CPT1A):c.449G>A (p.Trp150Ter)
NM_001876.4(CPT1A):c.453+1G>T
NM_001876.4(CPT1A):c.453+2T>A
NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter) rs80356782
NM_001876.4(CPT1A):c.619C>T (p.Gln207Ter)
NM_001876.4(CPT1A):c.693+1G>A rs1055176086
NM_001876.4(CPT1A):c.694-2A>G rs1555230518
NM_001876.4(CPT1A):c.702del (p.Trp235fs)
NM_001876.4(CPT1A):c.733C>T (p.Arg245Ter) rs767241290
NM_001876.4(CPT1A):c.771+1G>C rs1555230494
NM_001876.4(CPT1A):c.941C>T (p.Thr314Ile) rs80356776
NM_001876.4(CPT1A):c.967+1G>A rs112498048

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