ClinVar Miner

List of variants reported as likely benign for Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome by Illumina Laboratory Services, Illumina

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Total variants: 11
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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.1317G>A (p.Ser439=) rs74014932 0.00173
NM_001083614.2(EARS2):c.813C>T (p.Phe271=) rs149664520 0.00162
NM_001083614.2(EARS2):c.*91C>T rs141499212 0.00148
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
NM_001083614.2(EARS2):c.*2105C>G rs550393372 0.00001
NM_001083614.2(EARS2):c.*15G>C rs200936622

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