ClinVar Miner

List of variants reported as uncertain significance for acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins by Counsyl

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.40G>A (p.Gly14Ser) rs751248771 0.00006
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330

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