ClinVar Miner

List of variants reported as uncertain significance for Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome by Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS)

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser)	rs141129877	0.00087

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