List of variants in gene HADHB reported as uncertain significance for Mitochondrial trifunctional protein deficiency 2

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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)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000183.3(HADHB):c.584G>A (p.Arg195Gln)	rs764507324	0.00007
NM_000183.3(HADHB):c.493G>A (p.Val165Ile)	rs766573917	0.00001
NM_000183.3(HADHB):c.1252A>G (p.Asn418Asp)
NM_000183.3(HADHB):c.1390-515_1390-499del
NM_000183.3(HADHB):c.1399A>C (p.Met467Leu)

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