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

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000182.5(HADHA):c.652G>C (p.Val218Leu)	rs71441018	0.00050
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys)	rs143832445	0.00031
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr)	rs368388214	0.00016
NM_000182.5(HADHA):c.585T>A (p.Pro195=)	rs202034466	0.00004
NM_000182.5(HADHA):c.858G>A (p.Val286=)	rs373864418	0.00004
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr)	rs146667859	0.00002
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)	rs752317877	0.00002
NM_000182.5(HADHA):c.189A>G (p.Thr63=)	rs748187062	0.00001
NM_000182.5(HADHA):c.27C>T (p.Ile9=)	rs1453533016	0.00001
NM_000182.5(HADHA):c.869T>C (p.Val290Ala)	rs759968341	0.00001
NM_000182.4(HADHA):c.-37T>C	rs528818728
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro)	rs150565988
NM_000182.5(HADHA):c.252A>C (p.Gln84His)	rs2147784410
NM_000182.5(HADHA):c.454-13C>T	rs367636661
NM_000182.5(HADHA):c.676+6T>C	rs886055863
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala)	rs886055862

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