ClinVar Miner

List of variants in gene combination CPT2, LOC129930561 reported as likely pathogenic for encephalopathy, acute, infection-induced, susceptibility to, 4

Included ClinVar conditions (2):

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
Encephalopathy, acute, infection-induced, susceptibility to, 4

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000098.3(CPT2):c.75del (p.Ser26fs)	rs1057517493	0.00001
NM_000098.3(CPT2):c.106dup (p.Gln36fs)
NM_000098.3(CPT2):c.29G>A (p.Trp10Ter)

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