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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_001876.4(CPT1A):c.556-16C>T	rs3019603	0.94412
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.240G>A (p.Ser80=)	rs61731904	0.02145
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.1941C>G (p.Ala647=)	rs115731492	0.00879
NM_001876.4(CPT1A):c.2004T>C (p.Ala668=)	rs2228503	0.00879
NM_001876.4(CPT1A):c.1908G>A (p.Ala636=)	rs111407620	0.00743
NM_001876.4(CPT1A):c.1529C>T (p.Pro510Leu)	rs61731906	0.00724
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln)	rs140958507	0.00501
NM_001876.4(CPT1A):c.556-16_556-15insT	rs539173750	0.00414
NM_001876.4(CPT1A):c.453+9G>A	rs183694834	0.00070
NM_001876.4(CPT1A):c.142-17C>G	rs201203984	0.00056
NM_001876.4(CPT1A):c.2142+8C>T	rs147563740	0.00054
NM_001876.4(CPT1A):c.2100G>A (p.Glu700=)	rs188173541	0.00053
NM_001876.4(CPT1A):c.336C>T (p.Thr112=)	rs61731902	0.00039
NM_001876.4(CPT1A):c.142-16G>A	rs201717907	0.00027
NM_001876.4(CPT1A):c.1083G>A (p.Gln361=)	rs761229343	0.00006
NM_001876.4(CPT1A):c.1055G>A (p.Arg352Gln)	rs374383052	0.00003
NM_001876.4(CPT1A):c.518G>A (p.Arg173His)	rs199589844	0.00003
NM_001876.4(CPT1A):c.1575+8C>T	rs372364901	0.00002
NM_001876.4(CPT1A):c.693+35T>A	rs61887064	0.00001
NM_001876.4(CPT1A):c.282-11T>C
NM_001876.4(CPT1A):c.556-12del	rs113037606
NM_001876.4(CPT1A):c.556-17del
NM_001876.4(CPT1A):c.556-17dup
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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