ClinVar Miner

List of variants studied for Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins by Counsyl

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Total variants: 5

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HGVS	dbSNP
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)	rs753112330
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)	rs11090865
NM_018006.5(TRMU):c.40G>A (p.Gly14Ser)	rs751248771
NM_018006.5(TRMU):c.835G>A (p.Val279Met)	rs387907022
NM_018006.5(TRMU):c.880del (p.Arg294fs)	rs1490906786

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