ClinVar Miner

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000182.5(HADHA):c.180+1G>A	rs786205088
NM_000182.5(HADHA):c.539C>T (p.Pro180Leu)	rs1574624062

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