ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP
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>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.-342G>C
NM_002047.3(GARS):c.-197G>C rs886062269
NM_002047.3(GARS):c.-237A>C rs540431164
NM_002047.4(GARS1):c.*145C>A
NM_002047.4(GARS1):c.-36C>T rs531483802
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1059C>G (p.His353Gln) rs886062273
NM_002047.4(GARS1):c.1143G>C (p.Gln381His)
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.1253C>T (p.Thr418Met)
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.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.1660G>A (p.Asp554Asn) rs137852647
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)
NM_002047.4(GARS1):c.1754T>C (p.Met585Thr) rs374378925
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+14T>C rs367739730
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.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.2206A>C (p.Thr736Pro)
NM_002047.4(GARS1):c.2211C>T (p.Ile737=) rs886062274
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu) rs201728920
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.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.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.616G>A (p.Val206Ile) rs1584026136
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg) rs1301948344
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.794C>T (p.Ser265Phe) rs1554337974
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.882-4A>G rs778219649

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.