List of variants reported as pathogenic for Carnitine palmitoyl transferase 1A deficiency by Baylor Genetics

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Total variants: 10

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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.1163+1G>A	rs148059333	0.00005
NM_001876.4(CPT1A):c.281+1G>A	rs191107774	0.00001
NM_001876.4(CPT1A):c.1015C>T (p.Arg339Ter)	rs1435045544
NM_001876.4(CPT1A):c.1339C>T (p.Arg447Ter)	rs397515543
NM_001876.4(CPT1A):c.1762_1766dup (p.Tyr589Ter)	rs2153995212
NM_001876.4(CPT1A):c.1876-1G>A	rs80356798
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter)	rs398123654
NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter)	rs80356782
NM_001876.4(CPT1A):c.733C>T (p.Arg245Ter)	rs767241290

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