ClinVar Miner

List of variants reported as uncertain significance for acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins by Baylor Genetics

Included ClinVar conditions (2):

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Aminoglycoside-induced deafness; Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys)	rs773023974	0.00002
NM_018006.5(TRMU):c.497C>A (p.Ala166Glu)	rs756794418	0.00001
NM_018006.5(TRMU):c.289C>T (p.Pro97Ser)	rs886042713

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