ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial trifunctional protein deficiency

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Total variants: 11
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NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) rs749848370
NM_000182.5(HADHA):c.539C>T (p.Pro180Leu) rs1574624062
NM_000183.3(HADHB):c.1375G>A (p.Ala459Thr) rs1376342675
NM_000183.3(HADHB):c.209+1G>A rs113112630
NM_000183.3(HADHB):c.392C>T (p.Ala131Val)
NM_000183.3(HADHB):c.407T>C (p.Met136Thr)
NM_000183.3(HADHB):c.427C>G (p.Gln143Glu)
NM_000183.3(HADHB):c.631-2A>C rs1574663316
NM_000183.3(HADHB):c.901G>C (p.Gly301Arg) rs891954464

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