ClinVar Miner

List of variants in gene CPT1A reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln) rs140958507 0.00501
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met) rs61731903 0.00262
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser) rs151271754 0.00205
NM_001876.4(CPT1A):c.2142+8C>T rs147563740 0.00054
NM_001876.4(CPT1A):c.1496C>T (p.Ala499Val) rs753866589 0.00006
NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser) rs552007692 0.00004
NM_001876.4(CPT1A):c.741G>A (p.Pro247=) rs1034760579 0.00003
NM_001876.4(CPT1A):c.136T>C (p.Phe46Leu) rs769222168 0.00001
NM_001876.4(CPT1A):c.167C>T (p.Pro56Leu) rs1249954316 0.00001
NM_001876.4(CPT1A):c.317G>A (p.Ser106Asn) rs766819782 0.00001
NM_001876.4(CPT1A):c.1966C>G (p.His656Asp) rs1405682081
NM_001876.4(CPT1A):c.507A>G (p.Thr169=) rs547886138

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