ClinVar Miner

List of variants studied for Mitochondrial trifunctional protein deficiency by Vockley Lab, University of Pittsburgh

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000183.3(HADHB):c.1165A>G (p.Asn389Asp) rs1023807527 0.00001
NM_000183.3(HADHB):c.693del (p.Ala232fs) rs2147825515

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