ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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.1059C>G (p.His353Gln) rs886062273
NM_002047.4(GARS1):c.1143G>C (p.Gln381His)
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.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.1770A>G (p.Glu590=)
NM_002047.4(GARS1):c.1809+14T>C rs367739730
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.34G>A (p.Ala12Thr) rs1584017035
NM_002047.4(GARS1):c.384G>A (p.Leu128=) rs886062272
NM_002047.4(GARS1):c.616G>A (p.Val206Ile) rs1584026136
NM_002047.4(GARS1):c.765G>A (p.Ala255=) rs201447520
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.