ClinVar Miner

List of variants studied for acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525 0.00478
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.835G>A (p.Val279Met) rs387907022 0.00011
NM_018006.5(TRMU):c.40G>A (p.Gly14Ser) rs751248771 0.00006
NM_018006.5(TRMU):c.249-2A>G rs768299416 0.00002
NM_018006.5(TRMU):c.803del (p.Ala268fs) rs745338284 0.00001
NM_018006.5(TRMU):c.1019-1G>A rs773484808
NM_018006.5(TRMU):c.27C>T (p.Cys9=) rs1297282365
NM_018006.5(TRMU):c.333dup (p.His112fs) rs756600903
NM_018006.5(TRMU):c.356-2_356-1del rs2147053913
NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter) rs769668643

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