ClinVar Miner

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

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_018122.5(DARS2):c.492+2T>C rs142433332 0.00034
NM_018122.5(DARS2):c.455G>T (p.Cys152Phe) rs121918208 0.00011
NM_018122.5(DARS2):c.396+2T>G rs759123043 0.00006
NM_018122.5(DARS2):c.536G>A (p.Arg179His) rs121918210 0.00004
NM_018122.5(DARS2):c.172C>G (p.Arg58Gly) rs375700548 0.00003
NM_018122.5(DARS2):c.788G>A (p.Arg263Gln) rs121918207 0.00002
NM_018122.5(DARS2):c.1825C>T (p.Arg609Trp) rs200670286 0.00001
NM_018122.5(DARS2):c.1837C>T (p.Leu613Phe) rs121918212 0.00001
NM_018122.5(DARS2):c.1877T>A (p.Leu626Gln) rs121918213 0.00001
NM_018122.5(DARS2):c.562C>T (p.Arg188Ter) rs751929342 0.00001
NM_018122.5(DARS2):c.109del (p.Ser37fs)
NM_018122.5(DARS2):c.1196del (p.Ile399fs) rs1571995707
NM_018122.5(DARS2):c.119_120dup (p.Ile41fs)
NM_018122.5(DARS2):c.1273G>T (p.Glu425Ter) rs121918211
NM_018122.5(DARS2):c.133A>G (p.Ser45Gly) rs121918209
NM_018122.5(DARS2):c.161dup (p.Cys54fs)
NM_018122.5(DARS2):c.1675-1256_*115delinsGCAACATTTCGGCAACATTCCAACC
NM_018122.5(DARS2):c.1876C>G (p.Leu626Val) rs121918205
NM_018122.5(DARS2):c.20T>A (p.Leu7Ter) rs1553200766
NM_018122.5(DARS2):c.228-16C>A rs778731200
NM_018122.5(DARS2):c.228-21_228-20delinsC rs1553201258
NM_018122.5(DARS2):c.228-22T>A rs1557853625
NM_018122.5(DARS2):c.742C>T (p.Gln248Ter) rs772489337
NM_018122.5(DARS2):c.787C>T (p.Arg263Ter) rs121918206
NM_018122.5(DARS2):c.796C>T (p.Arg266Ter)
NM_018122.5(DARS2):c.[228-10C>A];[492+2T>C]

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