ClinVar Miner

List of variants in gene QARS1 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
Download table as spreadsheet
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.1387C>T (p.Arg463Ter) rs755674457 0.00001
NM_005051.3(QARS1):c.1451del (p.Tyr484fs) rs1064795119 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)
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)
NM_005051.3(QARS1):c.1485dup (p.Lys496Ter) rs2042438780
NM_005051.3(QARS1):c.1612del (p.Arg538fs) rs1553751717
NM_005051.3(QARS1):c.1634_1637del (p.Gln545fs)
NM_005051.3(QARS1):c.1690dup (p.Thr564fs) rs2107099019
NM_005051.3(QARS1):c.1691_1692del (p.Thr564fs) rs1559966797
NM_005051.3(QARS1):c.184C>T (p.Arg62Ter) rs2042511461
NM_005051.3(QARS1):c.1930dup (p.Val644fs)
NM_005051.3(QARS1):c.1978_1979del (p.Leu661fs) rs1217013234
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)
NM_005051.3(QARS1):c.3G>A (p.Met1Ile)
NM_005051.3(QARS1):c.406del (p.Gln136fs)
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.585del (p.Arg195_Leu196insTer) rs1241706645
NM_005051.3(QARS1):c.679del (p.Glu227fs) rs772343264
NM_005051.3(QARS1):c.786del (p.Gln263fs)
NM_005051.3(QARS1):c.972G>A (p.Trp324Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.