ClinVar Miner

List of variants in gene combination GAREM2, HADHA reported as pathogenic for Mitochondrial trifunctional protein deficiency 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)	rs137852771	0.00002
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)	rs200438844	0.00001

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