ClinVar Miner

List of variants in gene QARS1 reported as pathogenic for Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_005051.3(QARS1):c.1567C>T (p.Arg523Ter) rs767667312 0.00004
NM_005051.3(QARS1):c.1284_1285del (p.Asp430fs) rs775652214 0.00003
NM_005051.3(QARS1):c.134G>T (p.Gly45Val) rs587777331 0.00003
NM_005051.3(QARS1):c.1255C>T (p.Arg419Ter) rs769378726 0.00002
NM_005051.3(QARS1):c.2080C>T (p.Arg694Ter) rs746293241 0.00002
NM_005051.3(QARS1):c.1081C>T (p.Arg361Ter) rs751537797 0.00001
NM_005051.3(QARS1):c.1207C>T (p.Arg403Trp) rs587777332 0.00001
NM_005051.3(QARS1):c.1387C>T (p.Arg463Ter) rs755674457 0.00001
NM_005051.3(QARS1):c.1451del (p.Tyr484fs) rs1064795119 0.00001
NM_005051.3(QARS1):c.1485dup (p.Lys496Ter) rs2042438780 0.00001
NM_005051.3(QARS1):c.1543C>T (p.Arg515Trp) rs587777334 0.00001
NM_005051.3(QARS1):c.1699C>T (p.Arg567Ter) rs141184565 0.00001
NM_005051.3(QARS1):c.477G>A (p.Trp159Ter) rs776344968 0.00001
NM_005051.3(QARS1):c.1009_1012del (p.Asp337fs) rs1186557939
NM_005051.3(QARS1):c.1021C>T (p.Gln341Ter) rs2471852020
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val) rs752600100
NM_005051.3(QARS1):c.1075del (p.His359fs) rs2042451819
NM_005051.3(QARS1):c.1194del (p.Glu399fs) rs2107102230
NM_005051.3(QARS1):c.1272_1279del (p.His426fs) rs1238347256
NM_005051.3(QARS1):c.1345G>T (p.Glu449Ter) rs957599864
NM_005051.3(QARS1):c.1362_1365del (p.Leu455fs) rs747938605
NM_005051.3(QARS1):c.1391_1401dup (p.Phe468fs) rs2107100555
NM_005051.3(QARS1):c.1401C>A (p.Tyr467Ter) rs1559967310
NM_005051.3(QARS1):c.1612del (p.Arg538fs) rs1553751717
NM_005051.3(QARS1):c.1634_1637del (p.Gln545fs) rs937998415
NM_005051.3(QARS1):c.1690dup (p.Thr564fs) rs2107099019
NM_005051.3(QARS1):c.1691_1692del (p.Thr564fs) rs1559966797
NM_005051.3(QARS1):c.169T>C (p.Tyr57His) rs587777333
NM_005051.3(QARS1):c.184C>T (p.Arg62Ter) rs2042511461
NM_005051.3(QARS1):c.1896G>A (p.Trp632Ter)
NM_005051.3(QARS1):c.1930dup (p.Val644fs) rs2471844538
NM_005051.3(QARS1):c.1978_1979del (p.Leu661fs) rs1217013234
NM_005051.3(QARS1):c.2089C>T (p.Gln697Ter)
NM_005051.3(QARS1):c.256del (p.Gln86fs) rs2042510074
NM_005051.3(QARS1):c.2T>C (p.Met1Thr) rs2042518770
NM_005051.3(QARS1):c.352del (p.Thr118fs) rs2471863066
NM_005051.3(QARS1):c.3G>A (p.Met1Ile) rs2471867217
NM_005051.3(QARS1):c.406del (p.Gln136fs) rs1157267701
NM_005051.3(QARS1):c.425dup (p.Tyr142Ter) rs2042500119
NM_005051.3(QARS1):c.441del (p.Leu148fs) rs2107111718
NM_005051.3(QARS1):c.514C>T (p.Gln172Ter) rs2107111037
NM_005051.3(QARS1):c.561dup (p.Lys188fs) rs2471859404
NM_005051.3(QARS1):c.585del (p.Arg195_Leu196insTer) rs1241706645
NM_005051.3(QARS1):c.679del (p.Glu227fs) rs772343264
NM_005051.3(QARS1):c.786del (p.Gln263fs) rs746028168
NM_005051.3(QARS1):c.972G>A (p.Trp324Ter) rs2471852703

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