ClinVar Miner

List of variants in gene DARS2 reported as likely benign for Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_018122.5(DARS2):c.663+8T>C rs73037062 0.02691
NM_018122.5(DARS2):c.228-21_228-20insC rs367543010 0.00491
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met) rs149660059 0.00412
NM_018122.5(DARS2):c.*642C>A rs140743566 0.00370
NM_018122.5(DARS2):c.128-4A>T rs769597479 0.00300
NM_018122.5(DARS2):c.128-5T>A rs200078808 0.00084
NM_018122.5(DARS2):c.580G>A (p.Val194Ile) rs186723843 0.00040
NM_018122.5(DARS2):c.1345-16C>T rs200214952 0.00023
NM_018122.5(DARS2):c.1497G>A (p.Ser499=) rs201884983 0.00005
NM_018122.5(DARS2):c.303C>T (p.Ala101=) rs781148189 0.00001
NM_018122.5(DARS2):c.939T>G (p.Val313=) rs777837584 0.00001
NM_018122.5(DARS2):c.228-10dup rs374122386
NM_018122.5(DARS2):c.664-17_664-14del rs563212168

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