ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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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.169G>T (p.Ala57Ser)
NM_018006.5(TRMU):c.319T>C (p.Phe107Leu)
NM_018006.5(TRMU):c.711dup (p.Gln238fs)

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