ClinVar Miner

List of variants in gene EARS2 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.1317G>A (p.Ser439=) rs74014932 0.00173
NM_001083614.2(EARS2):c.813C>T (p.Phe271=) rs149664520 0.00162
NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser) rs141129877 0.00087
NM_001083614.1(EARS2):c.-34C>G rs371224231 0.00058
NM_001083614.2(EARS2):c.280A>G (p.Met94Val) rs200139797 0.00019
NM_001083614.2(EARS2):c.246C>T (p.Arg82=) rs531061994 0.00007

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