ClinVar Miner

List of variants reported as likely benign for Carnitine palmitoyl transferase 1A deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
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.336C>T (p.Thr112=)	rs61731902	0.00039

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