ClinVar Miner

List of variants reported as pathogenic for Mitochondrial trifunctional protein deficiency by Mendelics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)	rs137852769	0.00182
NM_000182.5(HADHA):c.1689+2T>G	rs1574602991
NM_000183.3(HADHB):c.1206C>G (p.Tyr402Ter)	rs146538551

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