ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
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.803del (p.Ala268fs) rs745338284 0.00001

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