ClinVar Miner

List of variants reported as benign for carnitine palmitoyltransferase II deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (7):

Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, neonatal form
Carnitine palmitoyl transferase II deficiency, severe infantile form
Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form
Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4
Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, neonatal form
Carnitine palmitoyltransferase II deficiency

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000098.3(CPT2):c.1102G>A (p.Val368Ile)	rs1799821	0.46024
NM_017887.3(CZIB):c.*453A>G	rs1056438	0.25402
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.1767G>A (p.Thr589=)	rs77565483	0.01032
NM_000098.3(CPT2):c.302C>T (p.Ala101Val)	rs75939866	0.00675

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