ClinVar Miner

List of variants studied for Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001083614.2(EARS2):c.320G>A (p.Arg107His) rs1021330566 0.00001
NM_001083614.2(EARS2):c.1488+61del
NM_001083614.2(EARS2):c.212del (p.Phe71fs) rs778413603
NM_001083614.2(EARS2):c.296G>C (p.Gly99Ala)

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