ClinVar Miner

List of variants in gene combination CPT2, LOC129930561 reported as not provided for Carnitine palmitoyltransferase II deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000098.3(CPT2):c.149C>A (p.Pro50His)	rs28936375	0.00022

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