ClinVar Miner

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

Included ClinVar conditions (3):
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Total variants: 12
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HGVS dbSNP
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) rs756931329
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) rs754386565
NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg) rs201508063
NM_000098.3(CPT2):c.1448T>C (p.Val483Ala) rs1324631593
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr) rs61731996
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375
NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln) rs199996641
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln) rs144760921

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