ClinVar Miner

List of variants in gene GARS1 reported as uncertain significance for Charcot-Marie-Tooth disease type 2D

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_002047.2(GARS1):c.-85C>A rs777045330 0.00243
NM_002047.4(GARS1):c.*145C>A rs904772533 0.00152
NM_002047.2(GARS1):c.-237A>C rs540431164 0.00053
NM_002047.2(GARS1):c.-80C>T rs886062270 0.00014
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272 0.00011
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.-36C>T rs531483802 0.00006
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser) rs538571144 0.00006
NM_002047.4(GARS1):c.155G>A (p.Arg52Gln) rs755504496 0.00004
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln) rs200726600 0.00004
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.882-4A>G rs778219649 0.00003
NM_002047.2(GARS1):c.-166T>G rs1008764831 0.00001
NM_002047.4(GARS1):c.1059C>G (p.His353Gln) rs886062273 0.00001
NM_002047.4(GARS1):c.1188T>C (p.Val396=) rs779184435 0.00001
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met) rs746139865 0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647 0.00001
NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu) rs879254346 0.00001
NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala) rs530891983 0.00001
NM_002047.4(GARS1):c.2211C>T (p.Ile737=) rs886062274 0.00001
NM_002047.4(GARS1):c.384G>A (p.Leu128=) rs886062272 0.00001
NM_002047.2(GARS1):c.-180G>C rs919928419
NM_002047.2(GARS1):c.-195A>T rs940014942
NM_002047.2(GARS1):c.-197G>C rs886062269
NM_002047.2(GARS1):c.-59C>T rs886062271
NM_002047.2(GARS1):c.-64C>T rs932663016
NM_002047.2(GARS1):c.-69T>G rs527307703
NM_002047.4(GARS1):c.1031+1G>A rs1554338272
NM_002047.4(GARS1):c.1143G>C (p.Gln381His) rs1782883200
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.1194+3A>C rs1782884805
NM_002047.4(GARS1):c.1296C>A (p.His432Gln) rs2128134619
NM_002047.4(GARS1):c.1393del (p.Ser465fs)
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg) rs137852646
NM_002047.4(GARS1):c.1770A>G (p.Glu590=) rs1783175611
NM_002047.4(GARS1):c.1787G>A (p.Arg596Gln)
NM_002047.4(GARS1):c.1809+1G>A rs1554340340
NM_002047.4(GARS1):c.1955G>C (p.Gly652Ala) rs747080824
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.455C>T (p.Pro152Leu) rs1554337168
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro) rs137852644
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.718G>C (p.Glu240Gln)
NM_002047.4(GARS1):c.815T>A (p.Leu272Gln) rs1554337979
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu) rs137852648

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