ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2D

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Total variants: 76
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HGVS dbSNP
NC_000007.14:g.30594642G>A
NC_000007.14:g.30594727A>T
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.-36C>A rs531483802
NM_002047.4(GARS1):c.-36C>T rs531483802
NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn) rs1554338262
NM_002047.4(GARS1):c.1031+14T>G rs189589556
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.1163G>A (p.Arg388Gln) rs17159287
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.1420C>A (p.Arg474=) rs113958280
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser) rs538571144
NM_002047.4(GARS1):c.1613+9T>C rs75855065
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239
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+14T>C rs367739730
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.1904C>T (p.Ser635Leu) rs201358272
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.2095-6C>T rs2240401
NM_002047.4(GARS1):c.2145A>G (p.Thr715=) rs4593
NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala) rs530891983
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.270C>T (p.Asp90=) rs369898799
NM_002047.4(GARS1):c.302G>A (p.Arg101His) rs200887429
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.562G>A (p.Val188Ile) rs376772628
NM_002047.4(GARS1):c.616G>A (p.Val206Ile) rs1584026136
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.803C>T (p.Thr268Ile) rs2230310
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
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

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