ClinVar Miner

List of variants in gene DARS2 reported by OMIM

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Total variants: 13
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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.536G>A (p.Arg179His) rs121918210 0.00004
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.1273G>T (p.Glu425Ter) rs121918211
NM_018122.5(DARS2):c.133A>G (p.Ser45Gly) rs121918209
NM_018122.5(DARS2):c.1876C>G (p.Leu626Val) rs121918205
NM_018122.5(DARS2):c.228-21_228-20delinsC rs1553201258
NM_018122.5(DARS2):c.228-22T>A rs1557853625
NM_018122.5(DARS2):c.787C>T (p.Arg263Ter) rs121918206

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