ClinVar Miner

List of variants in gene GARS1 reported as likely benign for Charcot-Marie-Tooth disease type 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 255
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HGVS dbSNP gnomAD frequency
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.669G>A (p.Gln223=) rs1051323034 0.00024
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.1543G>A (p.Val515Met) rs367589841 0.00015
NM_002047.4(GARS1):c.1743G>C (p.Leu581=) rs370844461 0.00014
NM_002047.4(GARS1):c.301C>T (p.Arg101Cys) rs746056671 0.00014
NM_002047.4(GARS1):c.428-13T>A rs373782750 0.00013
NM_002047.4(GARS1):c.1809+14T>C rs367739730 0.00010
NM_002047.4(GARS1):c.765G>A (p.Ala255=) rs201447520 0.00010
NM_002047.4(GARS1):c.19G>T (p.Val7Leu) rs201132307 0.00009
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799 0.00009
NM_002047.4(GARS1):c.700G>A (p.Glu234Lys) rs373326652 0.00009
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.1478A>G (p.Asn493Ser) rs538571144 0.00006
NM_002047.4(GARS1):c.1857C>T (p.Leu619=) rs183573304 0.00006
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) rs181251337 0.00006
NM_002047.4(GARS1):c.764C>T (p.Ala255Val) rs765478968 0.00006
NM_002047.4(GARS1):c.1663A>G (p.Met555Val) rs1023871853 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.333G>A (p.Ala111=) rs762212188 0.00005
NM_002047.4(GARS1):c.816A>G (p.Leu272=) rs777128525 0.00005
NM_002047.4(GARS1):c.1032-14G>A rs766263055 0.00004
NM_002047.4(GARS1):c.1158C>T (p.Ser386=) rs373576697 0.00004
NM_002047.4(GARS1):c.1440T>C (p.Leu480=) rs560809761 0.00004
NM_002047.4(GARS1):c.1534G>A (p.Ala512Thr) rs750971084 0.00004
NM_002047.4(GARS1):c.1737C>T (p.Phe579=) rs752464405 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.1921C>T (p.His641Tyr) rs191270471 0.00004
NM_002047.4(GARS1):c.264A>G (p.Gln88=) rs776884508 0.00004
NM_002047.4(GARS1):c.282A>G (p.Ala94=) rs571004464 0.00004
NM_002047.4(GARS1):c.44C>T (p.Ala15Val) rs758037738 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.1341A>G (p.Ala447=) rs765984852 0.00003
NM_002047.4(GARS1):c.144C>T (p.Ala48=) rs754360926 0.00003
NM_002047.4(GARS1):c.1700-13A>G rs762966640 0.00003
NM_002047.4(GARS1):c.174G>A (p.Ala58=) rs747227947 0.00003
NM_002047.4(GARS1):c.1923T>C (p.His641=) rs182542046 0.00003
NM_002047.4(GARS1):c.1929A>G (p.Val643=) rs376451704 0.00003
NM_002047.4(GARS1):c.69G>A (p.Arg23=) rs762624758 0.00003
NM_002047.4(GARS1):c.882-4A>G rs778219649 0.00003
NM_002047.4(GARS1):c.90C>T (p.Leu30=) rs1057519166 0.00003
NM_002047.4(GARS1):c.108C>T (p.Leu36=) rs1166263515 0.00002
NM_002047.4(GARS1):c.1140C>G (p.Ala380=) rs374980030 0.00002
NM_002047.4(GARS1):c.12G>A (p.Pro4=) rs775650014 0.00002
NM_002047.4(GARS1):c.1533T>C (p.Asp511=) rs1388554818 0.00002
NM_002047.4(GARS1):c.1553A>G (p.Tyr518Cys) rs753947676 0.00002
NM_002047.4(GARS1):c.1581T>C (p.Ile527=) rs960876782 0.00002
NM_002047.4(GARS1):c.1903+19G>A rs1051143976 0.00002
NM_002047.4(GARS1):c.534C>T (p.Ile178=) rs774732829 0.00002
NM_002047.4(GARS1):c.582T>C (p.His194=) rs753444153 0.00002
NM_002047.4(GARS1):c.786T>C (p.Asn262=) rs886043231 0.00002
NM_002047.4(GARS1):c.1031+9del rs746178135 0.00001
NM_002047.4(GARS1):c.1059C>T (p.His353=) rs886062273 0.00001
NM_002047.4(GARS1):c.1107A>C (p.Ala369=) rs1562777680 0.00001
NM_002047.4(GARS1):c.114G>T (p.Ala38=) rs764791266 0.00001
NM_002047.4(GARS1):c.1188T>C (p.Val396=) rs779184435 0.00001
NM_002047.4(GARS1):c.1195-19T>C rs377525562 0.00001
NM_002047.4(GARS1):c.1254G>A (p.Thr418=) rs552538763 0.00001
NM_002047.4(GARS1):c.1268C>T (p.Ser423Phe) rs774169230 0.00001
NM_002047.4(GARS1):c.1613+7T>C rs374795892 0.00001
NM_002047.4(GARS1):c.162C>T (p.Ser54=) rs758434035 0.00001
NM_002047.4(GARS1):c.1700-17T>C rs775676664 0.00001
NM_002047.4(GARS1):c.1782T>C (p.His594=) rs762072215 0.00001
NM_002047.4(GARS1):c.1784T>C (p.Val595Ala) rs373694973 0.00001
NM_002047.4(GARS1):c.1809+16C>T rs752229312 0.00001
NM_002047.4(GARS1):c.1836T>G (p.Ala612=) rs759595437 0.00001
NM_002047.4(GARS1):c.1854C>T (p.Val618=) rs1783234008 0.00001
NM_002047.4(GARS1):c.1996G>A (p.Val666Met) rs544634101 0.00001
NM_002047.4(GARS1):c.2064C>T (p.Asp688=) rs528105619 0.00001
NM_002047.4(GARS1):c.207A>G (p.Leu69=) rs891212642 0.00001
NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala) rs530891983 0.00001
NM_002047.4(GARS1):c.2205G>A (p.Glu735=) rs746553499 0.00001
NM_002047.4(GARS1):c.2211C>T (p.Ile737=) rs886062274 0.00001
NM_002047.4(GARS1):c.234G>A (p.Val78=) rs376199921 0.00001
NM_002047.4(GARS1):c.300C>G (p.Ala100=) rs781432743 0.00001
NM_002047.4(GARS1):c.384G>A (p.Leu128=) rs886062272 0.00001
NM_002047.4(GARS1):c.427+12A>G rs1171383899 0.00001
NM_002047.4(GARS1):c.427+14G>T rs1451264630 0.00001
NM_002047.4(GARS1):c.492C>G (p.Thr164=) rs368297381 0.00001
NM_002047.4(GARS1):c.507T>C (p.Phe169=) rs1791368083 0.00001
NM_002047.4(GARS1):c.585A>T (p.Val195=) rs1272746326 0.00001
NM_002047.4(GARS1):c.615C>T (p.Asp205=) rs370008019 0.00001
NM_002047.4(GARS1):c.658+17C>T rs761669283 0.00001
NM_002047.4(GARS1):c.723T>C (p.Ser241=) rs767839744 0.00001
NM_002047.4(GARS1):c.766G>C (p.Asp256His) rs201399681 0.00001
NM_002047.4(GARS1):c.804T>C (p.Thr268=) rs774076531 0.00001
NM_002047.4(GARS1):c.881+20T>C rs781026645 0.00001
NM_002047.4(GARS1):c.*145del rs529035174
NM_002047.4(GARS1):c.*36del rs758974790
NM_002047.4(GARS1):c.1005C>T (p.Ser335=)
NM_002047.4(GARS1):c.1017A>G (p.Gly339=)
NM_002047.4(GARS1):c.1023C>T (p.Ile341=)
NM_002047.4(GARS1):c.1031+10A>T
NM_002047.4(GARS1):c.1031+19T>C
NM_002047.4(GARS1):c.1031+7C>T
NM_002047.4(GARS1):c.1031+9C>G
NM_002047.4(GARS1):c.1032-20G>A
NM_002047.4(GARS1):c.1041A>C (p.Thr347=)
NM_002047.4(GARS1):c.1119T>C (p.Leu373=)
NM_002047.4(GARS1):c.1123T>C (p.Leu375=) rs544280407
NM_002047.4(GARS1):c.1158C>G (p.Ser386=)
NM_002047.4(GARS1):c.1162C>A (p.Arg388=) rs759277467
NM_002047.4(GARS1):c.1172G>A (p.Arg391His) rs199832199
NM_002047.4(GARS1):c.1176G>A (p.Leu392=)
NM_002047.4(GARS1):c.117C>T (p.Ala39=)
NM_002047.4(GARS1):c.1194+12G>A
NM_002047.4(GARS1):c.1194+12G>C
NM_002047.4(GARS1):c.1194+15G>T
NM_002047.4(GARS1):c.1194+7T>C
NM_002047.4(GARS1):c.1195-8T>C
NM_002047.4(GARS1):c.1245C>T (p.Leu415=) rs1584039354
NM_002047.4(GARS1):c.124C>A (p.Pro42Thr)
NM_002047.4(GARS1):c.1359+17T>G
NM_002047.4(GARS1):c.1407C>G (p.Leu469=) rs2128135093
NM_002047.4(GARS1):c.141C>A (p.Pro47=)
NM_002047.4(GARS1):c.1428C>G (p.Thr476=)
NM_002047.4(GARS1):c.1428C>T (p.Thr476=) rs1212959476
NM_002047.4(GARS1):c.1467+11T>C
NM_002047.4(GARS1):c.1468-15T>C
NM_002047.4(GARS1):c.1468-20A>T
NM_002047.4(GARS1):c.1468-6T>G rs1584044490
NM_002047.4(GARS1):c.1497C>A (p.Pro499=) rs1783029120
NM_002047.4(GARS1):c.1518G>A (p.Lys506=) rs1783029490
NM_002047.4(GARS1):c.1529A>G (p.Lys510Arg)
NM_002047.4(GARS1):c.1545G>C (p.Val515=)
NM_002047.4(GARS1):c.1551G>A (p.Glu517=) rs2128135204
NM_002047.4(GARS1):c.1575C>T (p.Cys525=)
NM_002047.4(GARS1):c.1578C>T (p.Tyr526=) rs371268919
NM_002047.4(GARS1):c.1581T>A (p.Ile527=) rs960876782
NM_002047.4(GARS1):c.1600C>T (p.Leu534=)
NM_002047.4(GARS1):c.1608G>A (p.Glu536=)
NM_002047.4(GARS1):c.1613+10C>A
NM_002047.4(GARS1):c.1613+9T>A rs75855065
NM_002047.4(GARS1):c.1614-17_1614-16del
NM_002047.4(GARS1):c.1614-4G>C rs376324026
NM_002047.4(GARS1):c.1614-5C>T
NM_002047.4(GARS1):c.1642A>C (p.Thr548Pro)
NM_002047.4(GARS1):c.1644A>G (p.Thr548=) rs1783125064
NM_002047.4(GARS1):c.1695A>G (p.Leu565=)
NM_002047.4(GARS1):c.1699+18A>G
NM_002047.4(GARS1):c.1699+23_1699+26del
NM_002047.4(GARS1):c.1700-11C>G
NM_002047.4(GARS1):c.1700-6T>C
NM_002047.4(GARS1):c.1719T>C (p.Asn573=)
NM_002047.4(GARS1):c.1734C>T (p.Ser578=)
NM_002047.4(GARS1):c.1743G>A (p.Leu581=)
NM_002047.4(GARS1):c.1746T>C (p.Gly582=) rs1783174238
NM_002047.4(GARS1):c.1764A>T (p.Val588=) rs1359108145
NM_002047.4(GARS1):c.1785A>G (p.Val595=)
NM_002047.4(GARS1):c.1806A>G (p.Arg602=) rs1314425578
NM_002047.4(GARS1):c.1809+10_1809+12del rs747338292
NM_002047.4(GARS1):c.1809+12T>A
NM_002047.4(GARS1):c.1809+20G>A
NM_002047.4(GARS1):c.1809+8G>A rs766137918
NM_002047.4(GARS1):c.1810-11A>C
NM_002047.4(GARS1):c.1810-12T>A
NM_002047.4(GARS1):c.1810-4C>T
NM_002047.4(GARS1):c.1827T>C (p.Ala609=) rs2128136202
NM_002047.4(GARS1):c.1851C>T (p.Ser617=) rs377159922
NM_002047.4(GARS1):c.1869A>G (p.Gln623=)
NM_002047.4(GARS1):c.1881C>T (p.Phe627=)
NM_002047.4(GARS1):c.1893C>G (p.Val631=)
NM_002047.4(GARS1):c.189G>C (p.Val63=)
NM_002047.4(GARS1):c.18A>G (p.Pro6=) rs1584016961
NM_002047.4(GARS1):c.1903+14A>G
NM_002047.4(GARS1):c.1903+15T>C
NM_002047.4(GARS1):c.1903+16T>G
NM_002047.4(GARS1):c.1903+18G>A rs2128136216
NM_002047.4(GARS1):c.1904-11A>G
NM_002047.4(GARS1):c.1904-19C>T rs1204535363
NM_002047.4(GARS1):c.1914G>A (p.Leu638=)
NM_002047.4(GARS1):c.1944C>T (p.Asp648=)
NM_002047.4(GARS1):c.1956G>T (p.Gly652=) rs1783251236
NM_002047.4(GARS1):c.1977C>T (p.Ala659=) rs746028145
NM_002047.4(GARS1):c.1992T>A (p.Ile664=) rs1584055669
NM_002047.4(GARS1):c.1995C>T (p.Gly665=)
NM_002047.4(GARS1):c.2010C>T (p.Val670=)
NM_002047.4(GARS1):c.2013C>T (p.Thr671=)
NM_002047.4(GARS1):c.2049T>C (p.Thr683=)
NM_002047.4(GARS1):c.2055T>C (p.Thr685=)
NM_002047.4(GARS1):c.2094+12T>C
NM_002047.4(GARS1):c.2094+15C>G
NM_002047.4(GARS1):c.2094+18T>G
NM_002047.4(GARS1):c.2095-16C>T
NM_002047.4(GARS1):c.210A>C (p.Ala70=)
NM_002047.4(GARS1):c.216C>T (p.Arg72=)
NM_002047.4(GARS1):c.2187A>G (p.Gln729=)
NM_002047.4(GARS1):c.2219G>A (p.Ter740=)
NM_002047.4(GARS1):c.222+15C>A
NM_002047.4(GARS1):c.222+17C>A
NM_002047.4(GARS1):c.223-5G>A
NM_002047.4(GARS1):c.223-5G>T
NM_002047.4(GARS1):c.261C>T (p.Pro87=)
NM_002047.4(GARS1):c.315G>A (p.Leu105=) rs2128132436
NM_002047.4(GARS1):c.324+17T>C
NM_002047.4(GARS1):c.324+19A>C rs1249363035
NM_002047.4(GARS1):c.325-9C>A rs770645408
NM_002047.4(GARS1):c.363A>G (p.Arg121=)
NM_002047.4(GARS1):c.375A>G (p.Glu125=)
NM_002047.4(GARS1):c.428-9A>G
NM_002047.4(GARS1):c.435T>C (p.Ser145=) rs2128132709
NM_002047.4(GARS1):c.43G>A (p.Ala15Thr)
NM_002047.4(GARS1):c.45T>G (p.Ala15=)
NM_002047.4(GARS1):c.474G>A (p.Lys158=)
NM_002047.4(GARS1):c.48G>A (p.Leu16=)
NM_002047.4(GARS1):c.537T>C (p.Asp179=) rs772899197
NM_002047.4(GARS1):c.569+12C>T
NM_002047.4(GARS1):c.569+20T>G rs2128132727
NM_002047.4(GARS1):c.633T>C (p.Cys211=)
NM_002047.4(GARS1):c.642T>C (p.Ala214=)
NM_002047.4(GARS1):c.658+13A>T
NM_002047.4(GARS1):c.658+18C>T
NM_002047.4(GARS1):c.658+20T>C
NM_002047.4(GARS1):c.69G>T (p.Arg23=) rs762624758
NM_002047.4(GARS1):c.6C>T (p.Pro2=) rs746437033
NM_002047.4(GARS1):c.711A>G (p.Ser237=) rs1584026695
NM_002047.4(GARS1):c.722G>A (p.Ser241Asn) rs775140242
NM_002047.4(GARS1):c.72C>T (p.Leu24=) rs768665866
NM_002047.4(GARS1):c.735+12A>G
NM_002047.4(GARS1):c.735+14A>G
NM_002047.4(GARS1):c.736-13A>G
NM_002047.4(GARS1):c.736-13A>T
NM_002047.4(GARS1):c.736-17C>T
NM_002047.4(GARS1):c.736-9G>A
NM_002047.4(GARS1):c.750A>C (p.Gly250=)
NM_002047.4(GARS1):c.750A>G (p.Gly250=) rs766799218
NM_002047.4(GARS1):c.759A>G (p.Glu253=) rs1554337956
NM_002047.4(GARS1):c.780C>T (p.Asn260=) rs2128133721
NM_002047.4(GARS1):c.784A>G (p.Asn262Asp)
NM_002047.4(GARS1):c.837C>T (p.Asn279=) rs1029686290
NM_002047.4(GARS1):c.838T>C (p.Leu280=)
NM_002047.4(GARS1):c.855C>T (p.Phe285=) rs786204099
NM_002047.4(GARS1):c.861G>T (p.Gly287=)
NM_002047.4(GARS1):c.873C>T (p.Asn291=)
NM_002047.4(GARS1):c.87G>T (p.Ser29=) rs772356008
NM_002047.4(GARS1):c.881+15T>C
NM_002047.4(GARS1):c.881+17G>A rs1791560409
NM_002047.4(GARS1):c.882-16T>G
NM_002047.4(GARS1):c.885C>T (p.Tyr295=)
NM_002047.4(GARS1):c.900T>C (p.Thr300=)
NM_002047.4(GARS1):c.909G>C (p.Gly303=)
NM_002047.4(GARS1):c.969T>G (p.Ala323=)
NM_002047.4(GARS1):c.972C>A (p.Ala324=)
NM_002047.4(GARS1):c.972C>T (p.Ala324=) rs764305863

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