ClinVar Miner

List of variants studied for Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_018006.5(TRMU):c.1141G>A (p.Gly381Arg) rs766403441 0.00001

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