ClinVar Miner

List of variants studied for Mitochondrial trifunctional protein deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala) rs371159065 0.00006
NM_000183.3(HADHB):c.182G>A (p.Arg61His) rs121913132 0.00005
NM_000183.3(HADHB):c.254+1G>A rs776172237 0.00001

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