ClinVar Miner

List of variants reported as uncertain significance for Aminoglycoside-induced deafness; Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins by Fulgent Genetics, Fulgent Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018006.4(TRMU):c.-147C>A rs190351151 0.00097
NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys) rs186961144 0.00020
NM_018006.5(TRMU):c.40G>A (p.Gly14Ser) rs751248771 0.00006

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