ClinVar Miner

List of variants studied for Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018122.5(DARS2):c.492+2T>C rs142433332 0.00034
NM_018122.5(DARS2):c.788G>A (p.Arg263Gln) rs121918207 0.00002
NM_018122.5(DARS2):c.259G>A (p.Asp87Asn) rs1209550754 0.00001

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