ClinVar Miner

List of variants in gene CPT1A reported as benign for not specified

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001876.4(CPT1A):c.556-16C>T rs3019603 0.94412
NM_001876.4(CPT1A):c.963G>A (p.Glu321=) rs2229737 0.08543
NM_001876.4(CPT1A):c.968-8C>T rs2305507 0.08414
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738 0.05682
NM_001876.4(CPT1A):c.240G>A (p.Ser80=) rs61731904 0.02145
NM_001876.4(CPT1A):c.967+3G>A rs75677837 0.01623
NM_001876.4(CPT1A):c.556-19T>G rs117610994 0.00984
NM_001876.4(CPT1A):c.1941C>G (p.Ala647=) rs115731492 0.00879
NM_001876.4(CPT1A):c.2004T>C (p.Ala668=) rs2228503 0.00879
NM_001876.4(CPT1A):c.1908G>A (p.Ala636=) rs111407620 0.00743
NM_001876.4(CPT1A):c.1529C>T (p.Pro510Leu) rs61731906 0.00724
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln) rs140958507 0.00501
NM_001876.4(CPT1A):c.1055G>A (p.Arg352Gln) rs374383052 0.00003
NM_001876.4(CPT1A):c.518G>A (p.Arg173His) rs199589844 0.00003
NM_001876.4(CPT1A):c.556-12del rs113037606

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