List of variants in gene CPT2 reported as benign for carnitine palmitoyl transferase II deficiency, severe infantile form

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000098.3(CPT2):c.1102G>A (p.Val368Ile)	rs1799821	0.46024
NM_000098.3(CPT2):c.341-155T>C	rs12737375	0.25426
NM_000098.3(CPT2):c.1939A>G (p.Met647Val)	rs1799822	0.15237
NM_000098.3(CPT2):c.511C>T (p.Leu171=)	rs2229292	0.02118
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)	rs2229291	0.01469
NM_000098.3(CPT2):c.1767G>A (p.Thr589=)	rs77565483	0.01032
NM_000098.3(CPT2):c.302C>T (p.Ala101Val)	rs75939866	0.00675
NM_000098.3(CPT2):c.1578T>C (p.Gly526=)	rs113493395	0.00455
NM_000098.3(CPT2):c.588T>C (p.Pro196=)	rs140853350	0.00035
NM_000098.3(CPT2):c.1851T>C (p.His617=)	rs540322467	0.00001

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