ClinVar Miner

List of variants reported as uncertain significance for Global developmental delay; Recurrent infections; Anemia; Liver failure; Hyperinsulinemic hypoglycemia; Acute kidney injury; Cholestatic liver disease by Center for Human Genetics, University Hospitals Cleveland Medical Center

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_003680.4(YARS1):c.611A>C (p.Tyr204Ser) rs1217293329

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