ClinVar Miner

List of variants studied for Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome by Mendelics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_018122.5(DARS2):c.610C>G (p.Leu204Val) rs1020907363 0.00001
NM_018122.5(DARS2):c.1196del (p.Ile399fs) rs1571995707
NM_018122.5(DARS2):c.127+94ATT[10] rs55949406
NM_018122.5(DARS2):c.228-16C>A rs778731200
NM_018122.5(DARS2):c.228-17C>G rs754752982

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