ClinVar Miner

List of variants reported as pathogenic for Carnitine palmitoyl transferase II deficiency, severe infantile form by Myriad Genetics, Inc.

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)	rs74315294	0.00134
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)	rs201065226	0.00001
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)	rs397509431

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