List of variants in gene combination CPT2, LOC129930561 reported as uncertain significance for 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

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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.65G>A (p.Ser22Asn)	rs1057287341	0.00004
NM_000098.3(CPT2):c.85T>G (p.Ser29Ala)	rs1342928062	0.00001
NM_000098.3(CPT2):c.37_39del (p.Gly13del)	rs1553168847
NM_000098.3(CPT2):c.56G>C (p.Gly19Ala)
NM_000098.3(CPT2):c.67C>T (p.Arg23Trp)

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