ClinVar Miner

List of variants reported as likely 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)	rs2229291	0.01469
NM_000098.2(CPT2):c.-477C>T	rs7545725	0.00978
NM_017887.3(CZIB):c.*457C>A	rs14829	0.00852
NM_000098.3(CPT2):c.1578T>C (p.Gly526=)	rs113493395	0.00455
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala)	rs17848485	0.00067
NM_000098.3(CPT2):c.588T>C (p.Pro196=)	rs140853350	0.00035
NM_000098.2(CPT2):c.-242G>A	rs548768045

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