ClinVar Miner

List of variants studied for Carnitine palmitoyl transferase 1A deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys) rs80356775 0.00001
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter) rs779893091 0.00001
NM_001876.4(CPT1A):c.1241C>T (p.Ala414Val) rs80356790
NM_001876.4(CPT1A):c.1741-1G>A

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