ClinVar Miner

List of variants in gene CPT1A reported by Ambry Genetics

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001876.4(CPT1A):c.1876G>C (p.Val626Leu) rs41302429 0.00029
NM_001876.4(CPT1A):c.1702G>T (p.Ala568Ser) rs1046804 0.00020
NM_001876.4(CPT1A):c.1813G>A (p.Val605Met) rs747835344 0.00002
NM_001876.4(CPT1A):c.634G>A (p.Gly212Ser) rs141191480 0.00002
NM_001876.4(CPT1A):c.893G>T (p.Gly298Val) rs1310052561 0.00002
NM_001876.4(CPT1A):c.1449C>A (p.His483Gln) rs1165511243 0.00001
NM_001876.4(CPT1A):c.1792C>T (p.Arg598Ter) rs773153659 0.00001
NM_001876.4(CPT1A):c.263A>G (p.Asn88Ser) rs781040444 0.00001
NM_001876.4(CPT1A):c.440C>T (p.Thr147Ile) rs760683406 0.00001
NM_001876.4(CPT1A):c.56T>C (p.Ile19Thr) rs1306340710 0.00001
NM_001876.4(CPT1A):c.160G>T (p.Val54Leu) rs147389938
NM_001876.4(CPT1A):c.175C>T (p.Pro59Ser)
NM_001876.4(CPT1A):c.1784G>A (p.Arg595Gln)
NM_001876.4(CPT1A):c.1793G>T (p.Arg598Leu)
NM_001876.4(CPT1A):c.1847T>C (p.Val616Ala)
NM_001876.4(CPT1A):c.1966C>G (p.His656Asp) rs1405682081
NM_001876.4(CPT1A):c.2029-3T>C
NM_001876.4(CPT1A):c.223G>A (p.Ala75Thr)
NM_001876.4(CPT1A):c.2306C>G (p.Ser769Cys)
NM_001876.4(CPT1A):c.239C>T (p.Ser80Leu)
NM_001876.4(CPT1A):c.454G>A (p.Gly152Ser)
NM_001876.4(CPT1A):c.457A>G (p.Met153Val)
NM_001876.4(CPT1A):c.535G>A (p.Val179Ile) rs542856213
NM_001876.4(CPT1A):c.635G>T (p.Gly212Val)
NM_001876.4(CPT1A):c.728G>A (p.Arg243Gln)
NM_001876.4(CPT1A):c.95A>C (p.Tyr32Ser)
NM_001876.4(CPT1A):c.970A>T (p.Thr324Ser)

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