List of variants reported as benign for Carnitine palmitoyl transferase 1A deficiency by Genome-Nilou Lab

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001876.4(CPT1A):c.556-16C>T	rs3019603	0.94412
NM_001876.4(CPT1A):c.1251T>C (p.Phe417=)	rs2228502	0.92020
NM_001876.4(CPT1A):c.1353-47G>T	rs3019576	0.92001
NM_001876.4(CPT1A):c.2142+93C>T	rs3019598	0.35902
NM_001876.4(CPT1A):c.963G>A (p.Glu321=)	rs2229737	0.08543
NM_001876.4(CPT1A):c.968-8C>T	rs2305507	0.08414
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr)	rs2229738	0.05682
NM_001876.4(CPT1A):c.967+3G>A	rs75677837	0.01623
NM_001876.4(CPT1A):c.556-19T>G	rs117610994	0.00984
NM_001876.4(CPT1A):c.693+35T>A	rs61887064	0.00001
NM_001876.4(CPT1A):c.693+34dup	rs753779449
NM_001876.4(CPT1A):c.693+36T>G	rs61887063
NM_001876.4(CPT1A):c.693+37T>C	rs61887062

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