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

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

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000098.3(CPT2):c.149C>A (p.Pro50His)	rs28936375	0.00022
NM_000098.3(CPT2):c.98del (p.Gln33fs)	rs917744011	0.00005
NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter)	rs1374482155	0.00001
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs)	rs754363068
NM_000098.3(CPT2):c.63dup (p.Ser22fs)

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