ClinVar Miner

List of variants in gene GARS1 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (138):
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Gene type:
ClinVar version:
Total variants: 124
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HGVS dbSNP
NC_000007.14:g.30594642G>A
NC_000007.14:g.30594727A>T
NM_001316772.1(GARS1):c.-207C>G rs903029869
NM_001316772.1(GARS1):c.-221C>T rs886062271
NM_001316772.1(GARS1):c.-226C>T
NM_001316772.1(GARS1):c.-231T>A rs527307703
NM_001316772.1(GARS1):c.-231T>G
NM_001316772.1(GARS1):c.-242C>T rs886062270
NM_001316772.1(GARS1):c.-247C>A
NM_001316772.1(GARS1):c.-328T>G
NM_001316772.1(GARS1):c.-339T>C rs78980639
NM_001316772.1(GARS1):c.-342G>C
NM_002047.3(GARS):c.-197G>C rs886062269
NM_002047.3(GARS):c.-205C>T rs17159262
NM_002047.3(GARS):c.-217A>G rs2970504
NM_002047.3(GARS):c.-225G>A rs148593022
NM_002047.3(GARS):c.-237A>C rs540431164
NM_002047.3(GARS):c.-317G>A rs116125961
NM_002047.4(GARS1):c.*145C>A
NM_002047.4(GARS1):c.*67C>G rs142498676
NM_002047.4(GARS1):c.*73A>G rs113598818
NM_002047.4(GARS1):c.-14A>G
NM_002047.4(GARS1):c.-36C>A rs531483802
NM_002047.4(GARS1):c.-36C>T rs531483802
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1031+14T>G rs189589556
NM_002047.4(GARS1):c.1031+1G>A rs1554338272
NM_002047.4(GARS1):c.1032-14G>A
NM_002047.4(GARS1):c.1059C>G (p.His353Gln) rs886062273
NM_002047.4(GARS1):c.1062T>C (p.Phe354=) rs11553502
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850
NM_002047.4(GARS1):c.1143G>C (p.Gln381His)
NM_002047.4(GARS1):c.1158C>T (p.Ser386=) rs373576697
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile) rs1060502836
NM_002047.4(GARS1):c.1188T>C (p.Val396=)
NM_002047.4(GARS1):c.1194+3A>C
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met)
NM_002047.4(GARS1):c.129G>T (p.Pro43=)
NM_002047.4(GARS1):c.130A>C (p.Ile44Leu) rs1584017371
NM_002047.4(GARS1):c.1403A>C (p.Asp468Ala) rs1584043561
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280
NM_002047.4(GARS1):c.1426A>T (p.Thr476Ser)
NM_002047.4(GARS1):c.1429A>G (p.Lys477Glu)
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser) rs538571144
NM_002047.4(GARS1):c.1613+9T>C rs75855065
NM_002047.4(GARS1):c.1614-4G>C rs376324026
NM_002047.4(GARS1):c.1644A>G (p.Thr548=)
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)
NM_002047.4(GARS1):c.1700-13A>G
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239
NM_002047.4(GARS1):c.1737C>T (p.Phe579=) rs752464405
NM_002047.4(GARS1):c.1743G>C (p.Leu581=) rs370844461
NM_002047.4(GARS1):c.1754T>C (p.Met585Thr) rs374378925
NM_002047.4(GARS1):c.1761G>A (p.Thr587=) rs3886641
NM_002047.4(GARS1):c.1770A>G (p.Glu590=)
NM_002047.4(GARS1):c.1809+10_1809+12del rs747338292
NM_002047.4(GARS1):c.1809+13G>A
NM_002047.4(GARS1):c.1809+14T>C rs367739730
NM_002047.4(GARS1):c.1809+16C>T
NM_002047.4(GARS1):c.1809+1G>A rs1554340340
NM_002047.4(GARS1):c.1809+8G>C
NM_002047.4(GARS1):c.1833T>C (p.Val611=) rs14270
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731
NM_002047.4(GARS1):c.1904-18T>C rs41275991
NM_002047.4(GARS1):c.1904-19C>T
NM_002047.4(GARS1):c.1904-19del rs745958570
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272
NM_002047.4(GARS1):c.1905G>A (p.Ser635=) rs773889809
NM_002047.4(GARS1):c.1923T>C (p.His641=) rs182542046
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627
NM_002047.4(GARS1):c.19G>T (p.Val7Leu) rs201132307
NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu) rs879254346
NM_002047.4(GARS1):c.2044C>A (p.His682Asn) rs1437642803
NM_002047.4(GARS1):c.2095-6C>T rs2240401
NM_002047.4(GARS1):c.2145A>G (p.Thr715=) rs4593
NM_002047.4(GARS1):c.2206A>C (p.Thr736Pro)
NM_002047.4(GARS1):c.2211C>T (p.Ile737=) rs886062274
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) rs181251337
NM_002047.4(GARS1):c.222+5C>T rs2072236
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu) rs200294578
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu) rs201728920
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799
NM_002047.4(GARS1):c.282A>G (p.Ala94=)
NM_002047.4(GARS1):c.301C>T (p.Arg101Cys) rs746056671
NM_002047.4(GARS1):c.302G>A (p.Arg101His) rs200887429
NM_002047.4(GARS1):c.332C>T (p.Ala111Val) rs370531212
NM_002047.4(GARS1):c.34G>A (p.Ala12Thr) rs1584017035
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) rs137852645
NM_002047.4(GARS1):c.384G>A (p.Leu128=) rs886062272
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483
NM_002047.4(GARS1):c.428-17C>T rs370452042
NM_002047.4(GARS1):c.44C>T (p.Ala15Val) rs758037738
NM_002047.4(GARS1):c.455C>T (p.Pro152Leu) rs1554337168
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro) rs137852644
NM_002047.4(GARS1):c.562G>A (p.Val188Ile) rs376772628
NM_002047.4(GARS1):c.598G>A (p.Asp200Asn) rs1554337369
NM_002047.4(GARS1):c.616G>A (p.Val206Ile) rs1584026136
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg) rs1301948344
NM_002047.4(GARS1):c.647A>G (p.His216Arg) rs768987322
NM_002047.4(GARS1):c.699C>T (p.Val233=) rs187937286
NM_002047.4(GARS1):c.700G>A (p.Glu234Lys) rs373326652
NM_002047.4(GARS1):c.747T>C (p.Tyr249=) rs7808770
NM_002047.4(GARS1):c.764C>T (p.Ala255Val) rs765478968
NM_002047.4(GARS1):c.765G>A (p.Ala255=) rs201447520
NM_002047.4(GARS1):c.766G>C (p.Asp256His) rs201399681
NM_002047.4(GARS1):c.794C>A (p.Ser265Tyr)
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) rs1554337974
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310
NM_002047.4(GARS1):c.815T>A (p.Leu272Gln) rs1554337979
NM_002047.4(GARS1):c.816A>G (p.Leu272=) rs777128525
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002047.4(GARS1):c.881+17G>A
NM_002047.4(GARS1):c.882-15T>G rs199741850
NM_002047.4(GARS1):c.882-4A>G rs778219649
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu) rs137852648
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438
NM_002047.4(GARS1):c.95T>C (p.Leu32Pro) rs863223328
NM_002047.4(GARS1):c.998A>T (p.Glu333Val) rs863224873

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