ClinVar Miner

List of variants in gene HADHA reported as pathogenic for Mitochondrial trifunctional protein deficiency

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000182.5(HADHA):c.180+3A>G rs781222705 0.00005
NM_000182.5(HADHA):c.1025T>C (p.Leu342Pro) rs137852772
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter) rs147103714
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) rs786204607
NM_000182.5(HADHA):c.845T>A (p.Val282Asp) rs137852773
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) rs137852775
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774

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