ClinVar Miner

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

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Total variants: 70
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HGVS dbSNP
NM_002047.4(GARS1):c.-14A>G rs0
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 rs0
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.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.11C>T (p.Pro4Leu) rs62636572
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402
NM_002047.4(GARS1):c.129G>T (p.Pro43=) rs0
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) rs0
NM_002047.4(GARS1):c.1429A>G (p.Lys477Glu) rs0
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=) rs0
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647
NM_002047.4(GARS1):c.1700-13A>G rs0
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.1809+13G>A rs0
NM_002047.4(GARS1):c.1809+14T>C rs367739730
NM_002047.4(GARS1):c.1809+16C>T rs0
NM_002047.4(GARS1):c.1809+1G>A rs1554340340
NM_002047.4(GARS1):c.1809+8G>C rs0
NM_002047.4(GARS1):c.1833T>C (p.Val611=) rs14270
NM_002047.4(GARS1):c.1904-18T>C rs41275991
NM_002047.4(GARS1):c.1904-19C>T rs0
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.1962C>T (p.Ile654=) rs201927627
NM_002047.4(GARS1):c.19G>T (p.Val7Leu) rs201132307
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) rs0
NM_002047.4(GARS1):c.222+5C>T rs2072236
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799
NM_002047.4(GARS1):c.282A>G (p.Ala94=) rs0
NM_002047.4(GARS1):c.301C>T (p.Arg101Cys) rs746056671
NM_002047.4(GARS1):c.332C>T (p.Ala111Val) rs370531212
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) rs137852645
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.598G>A (p.Asp200Asn) rs1554337369
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg) rs1301948344
NM_002047.4(GARS1):c.699C>T (p.Val233=) rs187937286
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.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 rs0
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438
NM_002047.4(GARS1):c.95T>C (p.Leu32Pro) rs863223328

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