ClinVar Miner

List of variants in gene QARS1 reported by GeneDx

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 197
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HGVS dbSNP gnomAD frequency
NM_005051.3(QARS1):c.977-13C>A rs4521268 0.65945
NM_005051.3(QARS1):c.517-61C>T rs4513485 0.63811
NM_005051.3(QARS1):c.399C>T (p.His133=) rs5030795 0.07620
NM_005051.3(QARS1):c.632-74C>T rs35673421 0.07613
NM_005051.3(QARS1):c.854A>G (p.Asn285Ser) rs11539148 0.04122
NM_005051.3(QARS1):c.516+215T>A rs79707780 0.01956
NM_005051.3(QARS1):c.265+43C>T rs76331936 0.01445
NM_005051.3(QARS1):c.1957-19C>G rs112579679 0.00826
NM_005051.3(QARS1):c.789+63C>T rs116738354 0.00724
NM_005051.3(QARS1):c.1635A>G (p.Gln545=) rs113144521 0.00666
NM_005051.3(QARS1):c.1615-17C>G rs138271247 0.00663
NM_005051.3(QARS1):c.1671G>T (p.Val557=) rs115671018 0.00334
NM_005051.3(QARS1):c.1014T>C (p.Tyr338=) rs138685078 0.00318
NM_005051.3(QARS1):c.516+30C>A rs140058252 0.00301
NM_005051.3(QARS1):c.2278-40G>A rs143986230 0.00299
NM_005051.3(QARS1):c.1295+13T>C rs149070379 0.00279
NM_005051.3(QARS1):c.673C>T (p.Arg225Trp) rs142517070 0.00192
NM_005051.3(QARS1):c.163C>T (p.Leu55=) rs58012546 0.00181
NM_005051.3(QARS1):c.1426G>A (p.Val476Ile) rs144092780 0.00162
NM_005051.3(QARS1):c.517-214C>T rs535245518 0.00117
NM_005051.3(QARS1):c.877-17T>C rs374002070 0.00108
NM_005051.3(QARS1):c.2084+22G>T rs114149286 0.00102
NM_005051.3(QARS1):c.2123C>T (p.Pro708Leu) rs142327602 0.00099
NM_005051.3(QARS1):c.1055+10G>C rs372899947 0.00098
NM_005051.3(QARS1):c.2064G>A (p.Glu688=) rs144316335 0.00072
NM_005051.3(QARS1):c.1760C>T (p.Ser587Phe) rs144563810 0.00055
NM_005051.3(QARS1):c.1295+20G>C rs377586991 0.00048
NM_005051.3(QARS1):c.1051C>T (p.Arg351Cys) rs763901654 0.00037
NM_005051.3(QARS1):c.316G>A (p.Asp106Asn) rs141983717 0.00034
NM_005051.3(QARS1):c.1615-9T>C rs199903047 0.00029
NM_005051.3(QARS1):c.1525C>T (p.Arg509Trp) rs553194272 0.00028
NM_005051.3(QARS1):c.1568G>A (p.Arg523Gln) rs201013732 0.00025
NM_005051.3(QARS1):c.632-20C>T rs367637023 0.00025
NM_005051.3(QARS1):c.1246G>A (p.Val416Ile) rs147076980 0.00024
NM_005051.3(QARS1):c.1388+7G>A rs201234869 0.00023
NM_005051.3(QARS1):c.2261A>G (p.Asp754Gly) rs142480574 0.00022
NM_005051.3(QARS1):c.1527-18C>T rs374752377 0.00021
NM_005051.3(QARS1):c.451+19G>A rs369141824 0.00021
NM_005051.3(QARS1):c.1956+25A>G rs532793779 0.00018
NM_005051.3(QARS1):c.400C>T (p.Arg134Trp) rs142831772 0.00018
NM_005051.3(QARS1):c.143T>C (p.Ile48Thr) rs201397059 0.00016
NM_005051.3(QARS1):c.1195G>A (p.Glu399Lys) rs143072084 0.00015
NM_005051.3(QARS1):c.1758+17_1758+18del rs372006503 0.00015
NM_005051.3(QARS1):c.1864-15A>G rs374530633 0.00015
NM_005051.3(QARS1):c.877-15G>A rs368949211 0.00015
NM_005051.3(QARS1):c.1712T>C (p.Val571Ala) rs755259427 0.00014
NM_005051.3(QARS1):c.451+4A>C rs370688039 0.00013
NM_005051.3(QARS1):c.1200C>G (p.Ala400=) rs374202707 0.00012
NM_005051.3(QARS1):c.2085-12C>G rs549153964 0.00012
NM_005051.3(QARS1):c.118-5C>T rs778689182 0.00011
NM_005051.3(QARS1):c.337G>A (p.Val113Met) rs767616063 0.00011
NM_005051.3(QARS1):c.461G>A (p.Arg154Gln) rs201032950 0.00010
NM_005051.3(QARS1):c.1585C>T (p.Pro529Ser) rs373719958 0.00009
NM_005051.3(QARS1):c.703+17A>T rs60002662 0.00009
NM_005051.3(QARS1):c.1870G>C (p.Glu624Gln) rs544950843 0.00008
NM_005051.3(QARS1):c.2172T>C (p.Asp724=) rs200663794 0.00008
NM_005051.3(QARS1):c.395G>C (p.Arg132Thr) rs530494890 0.00008
NM_005051.3(QARS1):c.1863+18A>C rs375666402 0.00007
NM_005051.3(QARS1):c.2152-11C>G rs373696203 0.00007
NM_005051.3(QARS1):c.451+18C>T rs202145473 0.00007
NM_005051.3(QARS1):c.1559C>T (p.Thr520Met) rs764216449 0.00006
NM_005051.3(QARS1):c.1759-13T>A rs375454834 0.00006
NM_005051.3(QARS1):c.297G>C (p.Leu99Phe) rs147794116 0.00006
NM_005051.3(QARS1):c.601C>T (p.Arg201Trp) rs200703354 0.00006
NM_005051.3(QARS1):c.-20T>C rs368345855 0.00005
NM_005051.3(QARS1):c.1158C>T (p.Leu386=) rs1085307775 0.00005
NM_005051.3(QARS1):c.1613G>A (p.Arg538Gln) rs778807845 0.00005
NM_005051.3(QARS1):c.2069G>A (p.Arg690His) rs201781920 0.00005
NM_005051.3(QARS1):c.901C>T (p.Arg301Cys) rs1370265763 0.00005
NM_005051.3(QARS1):c.-21T>C rs372058541 0.00004
NM_005051.3(QARS1):c.1122C>T (p.Pro374=) rs572025824 0.00004
NM_005051.3(QARS1):c.1279C>T (p.Arg427Cys) rs746114521 0.00004
NM_005051.3(QARS1):c.1304A>G (p.Tyr435Cys) rs143462532 0.00004
NM_005051.3(QARS1):c.1542A>G (p.Pro514=) rs370232570 0.00004
NM_005051.3(QARS1):c.1827A>C (p.Ala609=) rs781219702 0.00004
NM_005051.3(QARS1):c.2210C>T (p.Pro737Leu) rs772699618 0.00004
NM_005051.3(QARS1):c.118-20C>T rs770321868 0.00003
NM_005051.3(QARS1):c.1284_1285del (p.Asp430fs) rs775652214 0.00003
NM_005051.3(QARS1):c.1292A>C (p.Lys431Thr) rs778340693 0.00003
NM_005051.3(QARS1):c.134G>T (p.Gly45Val) rs587777331 0.00003
NM_005051.3(QARS1):c.2215G>A (p.Asp739Asn) rs749055007 0.00003
NM_005051.3(QARS1):c.452-10A>G rs754207465 0.00003
NM_005051.3(QARS1):c.495C>T (p.Ile165=) rs375725197 0.00003
NM_005051.3(QARS1):c.602G>A (p.Arg201Gln) rs192040640 0.00003
NM_005051.3(QARS1):c.693C>T (p.Phe231=) rs760938297 0.00003
NM_005051.3(QARS1):c.697A>C (p.Lys233Gln) rs1248234116 0.00003
NM_005051.3(QARS1):c.704-5G>T rs775662720 0.00003
NM_005051.3(QARS1):c.741A>G (p.Pro247=) rs779428867 0.00003
NM_005051.3(QARS1):c.780T>C (p.Thr260=) rs367793549 0.00003
NM_005051.3(QARS1):c.1032G>A (p.Ala344=) rs565068821 0.00002
NM_005051.3(QARS1):c.1189G>C (p.Glu397Gln) rs758759632 0.00002
NM_005051.3(QARS1):c.1255C>T (p.Arg419Ter) rs769378726 0.00002
NM_005051.3(QARS1):c.1614+3A>G rs1485211824 0.00002
NM_005051.3(QARS1):c.1650A>G (p.Pro550=) rs762120492 0.00002
NM_005051.3(QARS1):c.2075A>G (p.Tyr692Cys) rs557972227 0.00002
NM_005051.3(QARS1):c.262A>C (p.Ser88Arg) rs751342771 0.00002
NM_005051.3(QARS1):c.609G>A (p.Thr203=) rs764009927 0.00002
NM_005051.3(QARS1):c.930G>A (p.Glu310=) rs377081629 0.00002
NM_005051.3(QARS1):c.9T>C (p.Ala3=) rs776233744 0.00002
NM_005051.3(QARS1):c.1047C>T (p.Leu349=) rs200795712 0.00001
NM_005051.3(QARS1):c.1056-13C>T rs369771745 0.00001
NM_005051.3(QARS1):c.1060C>G (p.Leu354Val) rs1370961350 0.00001
NM_005051.3(QARS1):c.1085G>T (p.Gly362Val) rs763512186 0.00001
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) rs185476065 0.00001
NM_005051.3(QARS1):c.1164+1G>C rs1262558494 0.00001
NM_005051.3(QARS1):c.1170G>A (p.Met390Ile) rs1559967769 0.00001
NM_005051.3(QARS1):c.1231G>A (p.Gly411Ser) rs765950058 0.00001
NM_005051.3(QARS1):c.1280G>A (p.Arg427His) rs148004466 0.00001
NM_005051.3(QARS1):c.128C>G (p.Thr43Ser) rs550717519 0.00001
NM_005051.3(QARS1):c.1315G>A (p.Asp439Asn) rs764347049 0.00001
NM_005051.3(QARS1):c.1385C>T (p.Ala462Val) rs373289986 0.00001
NM_005051.3(QARS1):c.1398C>G (p.Ser466=) rs370978363 0.00001
NM_005051.3(QARS1):c.1451del (p.Tyr484fs) rs1064795119 0.00001
NM_005051.3(QARS1):c.1468C>T (p.His490Tyr) rs765374604 0.00001
NM_005051.3(QARS1):c.1527-6C>G rs1454109423 0.00001
NM_005051.3(QARS1):c.1543C>T (p.Arg515Trp) rs587777334 0.00001
NM_005051.3(QARS1):c.1672C>T (p.Arg558Cys) rs150328993 0.00001
NM_005051.3(QARS1):c.1774G>C (p.Val592Leu) rs751191501 0.00001
NM_005051.3(QARS1):c.1863+14G>A rs1057521351 0.00001
NM_005051.3(QARS1):c.1923A>G (p.Thr641=) rs764054134 0.00001
NM_005051.3(QARS1):c.1957-14C>T rs751375938 0.00001
NM_005051.3(QARS1):c.2151+11G>T rs774818694 0.00001
NM_005051.3(QARS1):c.2151+13G>C rs1465310490 0.00001
NM_005051.3(QARS1):c.2234G>A (p.Arg745His) rs770019480 0.00001
NM_005051.3(QARS1):c.2304G>A (p.Leu768=) rs767099836 0.00001
NM_005051.3(QARS1):c.2317G>A (p.Gly773Arg) rs762570876 0.00001
NM_005051.3(QARS1):c.266-15G>A rs761737038 0.00001
NM_005051.3(QARS1):c.266-17G>A rs1057523447 0.00001
NM_005051.3(QARS1):c.295T>C (p.Leu99=) rs754138545 0.00001
NM_005051.3(QARS1):c.346A>G (p.Ile116Val) rs1404146549 0.00001
NM_005051.3(QARS1):c.419A>G (p.Glu140Gly) rs750778308 0.00001
NM_005051.3(QARS1):c.487A>G (p.Lys163Glu) rs1398173228 0.00001
NM_005051.3(QARS1):c.516+13C>A rs754227489 0.00001
NM_005051.3(QARS1):c.557A>G (p.Glu186Gly) rs1346246672 0.00001
NM_005051.3(QARS1):c.570+16G>T rs1479784080 0.00001
NM_005051.3(QARS1):c.632-13T>C rs532499007 0.00001
NM_005051.3(QARS1):c.687T>G (p.Leu229=) rs1479459378 0.00001
NM_005051.3(QARS1):c.789+3G>A rs536602071 0.00001
NM_005051.3(QARS1):c.799C>T (p.Arg267Trp) rs749551140 0.00001
NM_005051.3(QARS1):c.869A>G (p.Tyr290Cys) rs1243944923 0.00001
NM_005051.3(QARS1):c.960C>T (p.Asp320=) rs780978358 0.00001
NM_005051.3(QARS1):c.969C>T (p.Ala323=) rs373752424 0.00001
NM_005051.2(QARS1):c.-32C>A rs376348627
NM_005051.3(QARS1):c.1012T>A (p.Tyr338Asn)
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val) rs752600100
NM_005051.3(QARS1):c.118-12C>T rs1057521517
NM_005051.3(QARS1):c.1199C>T (p.Ala400Val) rs1386524025
NM_005051.3(QARS1):c.127A>G (p.Thr43Ala)
NM_005051.3(QARS1):c.1288G>T (p.Asp430Tyr)
NM_005051.3(QARS1):c.1314C>G (p.Tyr438Ter) rs1294643628
NM_005051.3(QARS1):c.1362_1365del (p.Leu455fs) rs747938605
NM_005051.3(QARS1):c.1388+17C>T rs1553751829
NM_005051.3(QARS1):c.1418C>T (p.Ala473Val) rs1064797070
NM_005051.3(QARS1):c.149A>G (p.Lys50Arg) rs1559970922
NM_005051.3(QARS1):c.151G>C (p.Ala51Pro) rs755697141
NM_005051.3(QARS1):c.1526+13G>C rs775939776
NM_005051.3(QARS1):c.1596C>G (p.Ile532Met)
NM_005051.3(QARS1):c.1658T>A (p.Leu553Gln) rs1559966841
NM_005051.3(QARS1):c.1664C>G (p.Ala555Gly) rs1294758889
NM_005051.3(QARS1):c.1700G>A (p.Arg567Gln) rs1468382416
NM_005051.3(QARS1):c.1739_1741del (p.Thr580del) rs2471846483
NM_005051.3(QARS1):c.1746T>G (p.Phe582Leu) rs762223639
NM_005051.3(QARS1):c.1756A>C (p.Lys586Gln) rs2107098757
NM_005051.3(QARS1):c.1759-13_1759-7del rs781635166
NM_005051.3(QARS1):c.1832T>C (p.Ile611Thr) rs757743183
NM_005051.3(QARS1):c.1856T>G (p.Phe619Cys)
NM_005051.3(QARS1):c.1863+10G>C rs749903302
NM_005051.3(QARS1):c.1863+14G>T rs1057521351
NM_005051.3(QARS1):c.1957-10C>A rs367835872
NM_005051.3(QARS1):c.1957-22_1957-20del rs753102798
NM_005051.3(QARS1):c.1957-48G>C rs13064784
NM_005051.3(QARS1):c.1957-9C>T rs367776807
NM_005051.3(QARS1):c.2071C>G (p.Leu691Val) rs778797651
NM_005051.3(QARS1):c.2137A>C (p.Ser713Arg)
NM_005051.3(QARS1):c.2152-9T>C rs1057524221
NM_005051.3(QARS1):c.2206A>G (p.Lys736Glu)
NM_005051.3(QARS1):c.2254G>T (p.Asp752Tyr)
NM_005051.3(QARS1):c.243C>T (p.Ile81=) rs754974684
NM_005051.3(QARS1):c.250delinsAAGA (p.Glu84delinsLysLys) rs2107113849
NM_005051.3(QARS1):c.313G>A (p.Val105Met)
NM_005051.3(QARS1):c.322G>T (p.Glu108Ter) rs1028746179
NM_005051.3(QARS1):c.326G>A (p.Arg109Gln)
NM_005051.3(QARS1):c.533G>T (p.Gly178Val) rs2107109028
NM_005051.3(QARS1):c.549T>C (p.Ala183=) rs150572774
NM_005051.3(QARS1):c.553C>A (p.Leu185Met) rs934517078
NM_005051.3(QARS1):c.571-17C>T rs773560133
NM_005051.3(QARS1):c.630T>A (p.Asn210Lys)
NM_005051.3(QARS1):c.632-10dup rs775642346
NM_005051.3(QARS1):c.793C>T (p.Arg265Cys) rs1559968699
NM_005051.3(QARS1):c.818A>C (p.Asn273Thr) rs200736711
NM_005051.3(QARS1):c.837A>T (p.Gly279=) rs1057523072
NM_005051.3(QARS1):c.851T>G (p.Ile284Ser) rs2471855189
NM_005051.3(QARS1):c.858C>A (p.Phe286Leu) rs1307590384
NM_005051.3(QARS1):c.884A>C (p.Asn295Thr) rs540036773
NM_005051.3(QARS1):c.895T>C (p.Phe299Leu) rs762054345
NM_005051.3(QARS1):c.946A>C (p.Thr316Pro)
NM_005051.3(QARS1):c.988T>A (p.Tyr330Asn) rs2107103622

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