ClinVar Miner

List of variants reported as uncertain significance for Mitochondrial trifunctional protein deficiency by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000183.3(HADHB):c.491G>A (p.Gly164Asp)	rs1558356679

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