ClinVar Miner

List of variants studied for Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_001083614.2(EARS2):c.1A>G (p.Met1Val)
NM_001083614.2(EARS2):c.428C>G (p.Ser143Ter)

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