ClinVar Miner

List of variants in gene combination CPT1A, LOC126861244 reported as benign for Carnitine palmitoyl transferase 1A deficiency

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001876.4(CPT1A):c.1251T>C (p.Phe417=)	rs2228502	0.92020
NM_001876.4(CPT1A):c.1251= (p.Phe417=)	rs2228502	0.07980

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