ClinVar Miner

List of variants studied for Mitochondrial trifunctional protein deficiency by The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000183.3(HADHB):c.392C>T (p.Ala131Val) rs1672558537
NM_000183.3(HADHB):c.407T>C (p.Met136Thr) rs750956714
NM_000183.3(HADHB):c.427C>G (p.Gln143Glu) rs200718690

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