ClinVar Miner

List of variants reported as uncertain significance for carnitine palmitoyl transferase II deficiency, severe infantile form by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100
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.1679G>A (p.Arg560Gln) rs199996641
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln) rs144760921

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