ClinVar Miner

List of variants studied for Mitochondrial trifunctional protein deficiency by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049 0.00001
NM_000182.5(HADHA):c.2131C>T (p.Pro711Ser) rs138966725
NM_000183.3(HADHB):c.694G>A (p.Ala232Thr) rs987203346
NM_000183.3(HADHB):c.901G>C (p.Gly301Arg) rs891954464

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