List of variants in gene combination CPT2, LOC129930561 reported as likely pathogenic for Carnitine palmitoyl transferase II deficiency, severe infantile form

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000098.3(CPT2):c.98del (p.Gln33fs)	rs917744011	0.00005
NM_000098.3(CPT2):c.102C>G (p.Tyr34Ter)	rs1317793581	0.00001
NM_000098.3(CPT2):c.75del (p.Ser26fs)	rs1057517493	0.00001
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs)	rs754363068
NM_000098.3(CPT2):c.38_39del (p.Gly13fs)	rs2100254724
NM_000098.3(CPT2):c.38del (p.Gly13fs)	rs786204647
NM_000098.3(CPT2):c.54_72dup (p.Leu25fs)	rs1057517510
NM_000098.3(CPT2):c.72_97del (p.Leu25fs)	rs1553168850
NM_000098.3(CPT2):c.95del (p.Gly32fs)	rs1057517494

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