ClinVar Miner

List of variants reported as likely benign for Mitochondrial trifunctional protein deficiency by Illumina Laboratory Services, Illumina

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000183.2(HADHB):c.-214C>T rs72809668 0.17558
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00450
NM_000182.5(HADHA):c.-1G>T rs72809666 0.00211
NM_000183.3(HADHB):c.64+11T>C rs57709136 0.00141
NM_000183.2(HADHB):c.-185G>C rs367712851 0.00137
NM_000183.3(HADHB):c.246A>G (p.Ala82=) rs151302743 0.00070
NM_000182.5(HADHA):c.1690-14C>T rs142401180 0.00013
NM_000183.3(HADHB):c.135G>A (p.Thr45=) rs574464531 0.00003
NM_000183.3(HADHB):c.*500G>A rs538337605
NM_000183.3(HADHB):c.1371G>A (p.Ala457=) rs72851542

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