ClinVar Miner

List of variants in gene LARS1 studied for acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Included ClinVar conditions (2):

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Aminoglycoside-induced deafness; Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_020117.11(LARS1):c.2770-2A>G	rs139456270	0.00009
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter)	rs369437593	0.00006
NM_020117.11(LARS1):c.1755G>A (p.Trp585Ter)
NM_020117.11(LARS1):c.661C>T (p.Gln221Ter)

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