ClinVar Miner

List of variants in gene GARS1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_002047.4(GARS1):c.570-151C>A rs2709809 0.81338
NM_002047.4(GARS1):c.1031+77G>A rs1986756 0.78867
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402 0.70073
NM_002047.4(GARS1):c.659-43C>A rs1558064 0.49314
NM_002047.4(GARS1):c.1613+159G>A rs10249885 0.48563
NM_002047.2(GARS1):c.-534T>C rs2270025 0.48489
NM_002047.4(GARS1):c.2095-6C>T rs2240401 0.48477
NM_002047.4(GARS1):c.1359+299A>G rs6970807 0.48094
NC_000007.14:g.30634164A>G rs2214837 0.48022
NM_002047.4(GARS1):c.1360-71A>C rs10951271 0.36177
NM_002047.4(GARS1):c.428-320G>T rs2709806 0.19520
NM_002047.4(GARS1):c.569+173T>C rs10280491 0.12486
NM_002047.4(GARS1):c.1195-80G>A rs78284531 0.11572
NM_002047.4(GARS1):c.223-120G>A rs77213416 0.09798
NM_002047.4(GARS1):c.1699+285G>A rs77121610 0.09754
NM_002047.4(GARS1):c.1032-23A>T rs2527878 0.09645
NM_002047.4(GARS1):c.1468-285T>C rs2527880 0.09612
NM_002047.4(GARS1):c.222+5C>T rs2072236 0.09556
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438 0.09548
NM_002047.4(GARS1):c.324+259T>G rs722423 0.08267
NM_002047.4(GARS1):c.2145A>G (p.Thr715=) rs4593 0.08113
NM_002047.4(GARS1):c.427+176C>G rs2074779 0.06711
NM_002047.4(GARS1):c.1031+229C>T rs10229836 0.05002
NM_002047.4(GARS1):c.1613+96C>T rs17159291 0.04921
NM_002047.4(GARS1):c.1467+330A>C rs17159289 0.04918
NM_002047.4(GARS1):c.1613+9T>C rs75855065 0.04917
NM_002047.4(GARS1):c.1833T>C (p.Val611=) rs14270 0.04182
NM_002047.4(GARS1):c.1062T>C (p.Phe354=) rs11553502 0.04180
NM_002047.4(GARS1):c.223-304G>A rs113551895 0.04104
NM_002047.4(GARS1):c.1032-149A>T rs17159280 0.03786
NM_002047.2(GARS1):c.-205C>T rs17159262 0.03007
NM_002047.2(GARS1):c.-217A>G rs2970504 0.02929
NM_002047.4(GARS1):c.428-139G>A rs2952804 0.02919
NM_002047.4(GARS1):c.1614-271A>G rs118095447 0.02712
NM_002047.4(GARS1):c.1700-45T>C rs118002895 0.02313
NM_002047.4(GARS1):c.881+290T>C rs140249264 0.01756
NM_002047.4(GARS1):c.2094+277G>A rs183763845 0.01755
NM_002047.4(GARS1):c.2094+276_2094+277insC rs151154671 0.01754
NM_002047.4(GARS1):c.1194+212C>G rs79036537 0.01732
NM_002047.2(GARS1):c.-317G>A rs116125961 0.01714
NM_002047.4(GARS1):c.2094+129G>A rs79295938 0.01693
NM_002047.4(GARS1):c.1360-335T>C rs113343841 0.01602
NM_002047.4(GARS1):c.747T>C (p.Tyr249=) rs7808770 0.01578
NM_002047.4(GARS1):c.1761G>A (p.Thr587=) rs3886641 0.01523
NM_002047.4(GARS1):c.1359+97A>G rs2709772 0.01406
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_002047.4(GARS1):c.223-132G>A rs117505203 0.01238
NC_000007.14:g.30634188C>T rs117407393 0.01138
NM_002047.4(GARS1):c.223-166G>A rs2240501 0.01088
NM_002047.4(GARS1):c.881+70T>C rs114018913 0.01039
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
NM_002047.4(GARS1):c.881+240A>G rs112431911 0.00714
NM_002047.2(GARS1):c.-225G>A rs148593022 0.00641
NM_002047.4(GARS1):c.1467+113G>A rs57305857 0.00598
NM_002047.4(GARS1):c.*67C>G rs142498676 0.00506
NM_002047.4(GARS1):c.1810-107T>G rs115985185 0.00438
NM_002047.2(GARS1):c.-177T>C rs78980639 0.00437
NM_002047.4(GARS1):c.2190G>A (p.Glu730=) rs190132116 0.00437
NC_000007.14:g.30594476T>C rs145875816 0.00416
NM_002047.4(GARS1):c.1195-47T>C rs145902909 0.00412
NM_002047.4(GARS1):c.1700-85G>A rs575217668 0.00383
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_002047.2(GARS1):c.-85C>A rs777045330 0.00243
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280 0.00210
NM_002047.4(GARS1):c.1810-199G>A rs117100393 0.00163
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627 0.00120
NM_002047.4(GARS1):c.699C>T (p.Val233=) rs187937286 0.00063
NM_002047.4(GARS1):c.428-17C>T rs370452042 0.00040
NM_002047.4(GARS1):c.1032-15C>T rs201868189 0.00037
NM_002047.4(GARS1):c.1904-18T>C rs41275991 0.00036
NM_002047.4(GARS1):c.675G>A (p.Leu225=) rs369203473 0.00033
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu) rs200294578 0.00029
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850 0.00024
NM_002047.4(GARS1):c.51G>A (p.Leu17=) rs202117737 0.00023
NM_002047.4(GARS1):c.302G>A (p.Arg101His) rs200887429 0.00022
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483 0.00021
NM_002047.4(GARS1):c.428-13T>A rs373782750 0.00013
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln) rs369466037 0.00011
NM_002047.4(GARS1):c.1809+14T>C rs367739730 0.00010
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799 0.00009
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239 0.00008
NM_002047.4(GARS1):c.882-15T>G rs199741850 0.00008
NM_002047.4(GARS1):c.1149C>T (p.Ser383=) rs369389062 0.00007
NM_002047.4(GARS1):c.562G>A (p.Val188Ile) rs376772628 0.00007
NM_002047.4(GARS1):c.100C>T (p.Arg34Trp) rs928410877 0.00006
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731 0.00006
NM_002047.4(GARS1):c.764C>T (p.Ala255Val) rs765478968 0.00006
NM_002047.2(GARS1):c.-45C>T rs903029869 0.00005
NM_002047.4(GARS1):c.1904-19del rs745958570 0.00005
NM_002047.4(GARS1):c.325-9C>G rs770645408 0.00005
NM_002047.4(GARS1):c.-31C>A rs549993976 0.00004
NM_002047.4(GARS1):c.1158C>T (p.Ser386=) rs373576697 0.00004
NM_002047.4(GARS1):c.1754T>C (p.Met585Thr) rs374378925 0.00004
NM_002047.4(GARS1):c.1828G>A (p.Val610Ile) rs201432170 0.00004
NM_002047.4(GARS1):c.59T>C (p.Leu20Pro) rs756664556 0.00004
NM_002047.4(GARS1):c.787G>A (p.Val263Ile) rs77518956 0.00004
NM_002047.4(GARS1):c.163A>G (p.Met55Val) rs900324585 0.00003
NM_002047.4(GARS1):c.1923T>C (p.His641=) rs182542046 0.00003
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu) rs201728920 0.00003
NM_002047.4(GARS1):c.305A>G (p.Lys102Arg) rs369224847 0.00003
NM_002047.4(GARS1):c.69G>A (p.Arg23=) rs762624758 0.00003
NM_002047.4(GARS1):c.-6A>G rs747409671 0.00002
NM_002047.4(GARS1):c.112G>A (p.Ala38Thr) rs759499740 0.00002
NM_002047.4(GARS1):c.1159G>A (p.Ala387Thr) rs776528885 0.00002
NM_002047.4(GARS1):c.1553A>G (p.Tyr518Cys) rs753947676 0.00002
NM_002047.4(GARS1):c.271G>A (p.Val91Ile) rs374616031 0.00002
NM_002047.4(GARS1):c.637C>T (p.Arg213Cys) rs769780656 0.00002
NM_002047.4(GARS1):c.-1C>A rs1257498883 0.00001
NM_002047.4(GARS1):c.1031+9del rs746178135 0.00001
NM_002047.4(GARS1):c.1234C>T (p.Arg412Cys) rs770924455 0.00001
NM_002047.4(GARS1):c.1359+1G>A rs868796615 0.00001
NM_002047.4(GARS1):c.1399T>A (p.Tyr467Asn) rs368388267 0.00001
NM_002047.4(GARS1):c.1700-17T>C rs775676664 0.00001
NM_002047.4(GARS1):c.1729C>A (p.Pro577Thr) rs754547488 0.00001
NM_002047.4(GARS1):c.1751T>A (p.Ile584Asn) rs864622616 0.00001
NM_002047.4(GARS1):c.1784T>C (p.Val595Ala) rs373694973 0.00001
NM_002047.4(GARS1):c.1859C>T (p.Pro620Leu) rs892958904 0.00001
NM_002047.4(GARS1):c.186G>C (p.Glu62Asp) rs1554336540 0.00001
NM_002047.4(GARS1):c.2064C>T (p.Asp688=) rs528105619 0.00001
NM_002047.4(GARS1):c.227A>G (p.Asp76Gly) rs780858299 0.00001
NM_002047.4(GARS1):c.471G>C (p.Leu157Phe) rs367915362 0.00001
NM_002047.4(GARS1):c.492C>G (p.Thr164=) rs368297381 0.00001
NM_002047.4(GARS1):c.531G>A (p.Glu177=) rs759865366 0.00001
NM_002047.4(GARS1):c.662A>G (p.His221Arg) rs1279978899 0.00001
NM_002047.4(GARS1):c.733C>A (p.Gln245Lys) rs756629704 0.00001
NM_002047.4(GARS1):c.980G>C (p.Gly327Ala) rs774283805 0.00001
NM_002047.2(GARS1):c.-418T>A rs115725201
NM_002047.4(GARS1):c.*50_*51del rs70983380
NM_002047.4(GARS1):c.*51del rs70983380
NM_002047.4(GARS1):c.*51dup rs70983380
NM_002047.4(GARS1):c.-38G>A rs1054637945
NM_002047.4(GARS1):c.-40C>A rs775425723
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1007C>G (p.Pro336Arg) rs2128134025
NM_002047.4(GARS1):c.1015G>A (p.Gly339Arg) rs2128134030
NM_002047.4(GARS1):c.1095C>G (p.Phe365Leu)
NM_002047.4(GARS1):c.1170G>A (p.Met390Ile) rs1436808636
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
NM_002047.4(GARS1):c.1208A>G (p.Asn403Ser) rs1000458033
NM_002047.4(GARS1):c.1360-322del rs749336250
NM_002047.4(GARS1):c.1360-339_1360-336del rs199878197
NM_002047.4(GARS1):c.1379G>C (p.Gly460Ala) rs924595179
NM_002047.4(GARS1):c.1465C>T (p.Pro489Ser)
NM_002047.4(GARS1):c.1468-1C>G rs2128135187
NM_002047.4(GARS1):c.1474G>A (p.Val492Ile)
NM_002047.4(GARS1):c.1495C>T (p.Pro499Ser) rs1428449193
NM_002047.4(GARS1):c.1578C>T (p.Tyr526=) rs371268919
NM_002047.4(GARS1):c.1613+199del rs74274581
NM_002047.4(GARS1):c.1614-4G>A rs376324026
NM_002047.4(GARS1):c.1614-4G>C rs376324026
NM_002047.4(GARS1):c.1643C>G (p.Thr548Arg) rs541222096
NM_002047.4(GARS1):c.1700-13A>T rs762966640
NM_002047.4(GARS1):c.1708G>A (p.Val570Ile) rs1783172399
NM_002047.4(GARS1):c.1945G>C (p.Asp649His)
NM_002047.4(GARS1):c.2096T>A (p.Ile699Asn) rs2128136441
NM_002047.4(GARS1):c.235C>T (p.Arg79Ter) rs1479788149
NM_002047.4(GARS1):c.313C>G (p.Leu105Val) rs1791317535
NM_002047.4(GARS1):c.325-292G>T rs147169899
NM_002047.4(GARS1):c.366A>G (p.Ala122=) rs1057521413
NM_002047.4(GARS1):c.3G>A (p.Met1Ile) rs781520666
NM_002047.4(GARS1):c.427G>A (p.Gly143Ser) rs1584022929
NM_002047.4(GARS1):c.428-171del rs144012888
NM_002047.4(GARS1):c.46C>G (p.Leu16Val) rs2128131920
NM_002047.4(GARS1):c.47TGC[7] (p.Leu19_Leu20dup) rs150213018
NM_002047.4(GARS1):c.481A>G (p.Ile161Val) rs1202467613
NM_002047.4(GARS1):c.553C>G (p.Pro185Ala)
NM_002047.4(GARS1):c.557_558delinsGC (p.Glu186Gly) rs2128132725
NM_002047.4(GARS1):c.569+8C>A rs1554337181
NM_002047.4(GARS1):c.570-68_570-64del rs141443294
NM_002047.4(GARS1):c.638G>A (p.Arg213His) rs780116880
NM_002047.4(GARS1):c.658+14T>C rs1210407173
NM_002047.4(GARS1):c.875T>C (p.Met292Thr) rs1064795123
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002047.4(GARS1):c.93G>A (p.Leu31=) rs2529438
NM_002047.4(GARS1):c.998A>C (p.Glu333Ala) rs863224873

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