ClinVar Miner

List of variants in gene DARS1 studied for Hypomyelination with brain stem and spinal cord involvement and leg spasticity

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001349.4(DARS1):c.505-13T>C rs371309040 0.19073
NM_001349.4(DARS1):c.403G>A (p.Val135Ile) rs140573664 0.00045
NM_001349.4(DARS1):c.125-18C>T rs777497235 0.00006
NM_001349.4(DARS1):c.242G>A (p.Arg81His) rs532864330 0.00005
NM_001349.4(DARS1):c.1493G>A (p.Arg498Gln) rs773488177 0.00003
NM_001349.4(DARS1):c.1480C>G (p.Arg494Gly) rs147077598 0.00002
NM_001349.4(DARS1):c.1277T>C (p.Leu426Ser) rs377510027 0.00001
NM_001349.4(DARS1):c.1288C>T (p.Gln430Ter) rs1680894122 0.00001
NM_001349.4(DARS1):c.1459C>T (p.Arg487Cys) rs587776984 0.00001
NM_001349.4(DARS1):c.644T>C (p.Phe215Ser) rs751774677 0.00001
NM_001349.4(DARS1):c.839A>T (p.His280Leu) rs527236040 0.00001
NM_001349.4(DARS1):c.1099G>T (p.Asp367Tyr) rs370064817
NM_001349.4(DARS1):c.1231-455A>G rs2104793090
NM_001349.4(DARS1):c.1298A>G (p.His433Arg) rs2104792676
NM_001349.4(DARS1):c.1379G>A (p.Arg460His) rs587776985
NM_001349.4(DARS1):c.1481G>A (p.Arg494His) rs967111310
NM_001349.4(DARS1):c.484C>T (p.Pro162Ser) rs149170955
NM_001349.4(DARS1):c.505-3del rs34744196
NM_001349.4(DARS1):c.564+2264G>A rs1291568630
NM_001349.4(DARS1):c.735C>G (p.Tyr245Ter)
NM_001349.4(DARS1):c.766A>C (p.Met256Leu) rs886037635
NM_001349.4(DARS1):c.821C>T (p.Ala274Val) rs369152939
NM_001349.4(DARS1):c.845A>C (p.His282Pro) rs1681092568

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