ClinVar Miner

List of variants studied for carnitine palmitoyl transferase II deficiency, severe infantile form by Baylor Genetics

Included ClinVar conditions (3):
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Total variants: 10
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HGVS dbSNP
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295
NM_000098.3(CPT2):c.1372A>C (p.Lys458Gln) rs147276580
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) rs74315296
NM_000098.3(CPT2):c.1569_1570del (p.His523fs) rs1572385947
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226
NM_000098.3(CPT2):c.379G>A (p.Val127Ile)
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala) rs141505320
NM_000098.3(CPT2):c.846C>T (p.Pro282=) rs138855128

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