ClinVar Miner

List of variants reported as uncertain significance for Carnitine palmitoyl transferase 1A deficiency by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001876.4(CPT1A):c.1112C>T (p.Ser371Leu)	rs376430455	0.00003
NM_001876.4(CPT1A):c.421G>A (p.Gly141Ser)	rs1309112630	0.00001
NM_001876.4(CPT1A):c.1528C>T (p.Pro510Ser)	rs1279443212

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