ClinVar Miner

List of variants studied for Mitochondrial trifunctional protein deficiency 2 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000183.3(HADHB):c.966G>A (p.Ala322=) rs7572240 0.02064
NM_000183.3(HADHB):c.830A>G (p.Lys277Arg) rs57969630 0.00662
NM_000183.3(HADHB):c.780C>T (p.Leu260=) rs7607527 0.00660
NM_000183.3(HADHB):c.891C>T (p.Ile297=) rs56902571 0.00660
NM_000183.3(HADHB):c.110-2353C>T
NM_000183.3(HADHB):c.812-5A>T rs72851534

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