ClinVar Miner

List of variants in gene combination EARS2, GGA2 reported as likely benign for Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001083614.2(EARS2):c.*1327A>G rs72776116 0.01372
NM_001083614.2(EARS2):c.*555G>A rs190982783 0.00465
NM_001083614.2(EARS2):c.*458C>T rs145856944 0.00379
NM_001083614.2(EARS2):c.*91C>T rs141499212 0.00148
NM_001083614.2(EARS2):c.*2105C>G rs550393372 0.00001
NM_001083614.2(EARS2):c.*15G>C rs200936622

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