ClinVar Miner

List of variants studied for Mitochondrial trifunctional protein deficiency 2 by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000183.3(HADHB):c.182G>A (p.Arg61His) rs121913132 0.00005
NM_000183.3(HADHB):c.740G>A (p.Arg247His) rs121913133 0.00001
NM_000183.3(HADHB):c.1331G>A (p.Arg444Lys) rs121913134
NM_000183.3(HADHB):c.357dup (p.Ala120fs) rs886037844
NM_000183.3(HADHB):c.776_777insT (p.Leu260fs)
NM_000183.3(HADHB):c.788A>G (p.Asp263Gly) rs121913131

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