List of variants in gene QARS1 reported as likely pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005051.3(QARS1):c.1284_1285del (p.Asp430fs)	rs775652214	0.00003
NM_005051.3(QARS1):c.134G>T (p.Gly45Val)	rs587777331	0.00003
NM_005051.3(QARS1):c.1570C>T (p.Arg524Trp)	rs774980346	0.00002
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)	rs185476065	0.00001
NM_005051.3(QARS1):c.1164+1G>C	rs1262558494	0.00001
NM_005051.3(QARS1):c.1207C>T (p.Arg403Trp)	rs587777332	0.00001
NM_005051.3(QARS1):c.1385C>T (p.Ala462Val)	rs373289986	0.00001
NM_005051.3(QARS1):c.1389-3C>A	rs368358627	0.00001
NM_005051.3(QARS1):c.1451del (p.Tyr484fs)	rs1064795119	0.00001
NM_005051.3(QARS1):c.1543C>T (p.Arg515Trp)	rs587777334	0.00001
NM_005051.3(QARS1):c.1759-2A>G	rs1232739970	0.00001
NM_005051.3(QARS1):c.477G>A (p.Trp159Ter)	rs776344968	0.00001
NM_005051.3(QARS1):c.487A>G (p.Lys163Glu)	rs1398173228	0.00001
NM_005051.3(QARS1):c.631+1G>A	rs1230015326	0.00001
NM_005051.3(QARS1):c.794G>A (p.Arg265His)	rs916890735	0.00001
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val)	rs752600100
NM_005051.3(QARS1):c.1314C>G (p.Tyr438Ter)	rs1294643628
NM_005051.3(QARS1):c.1325_1326del (p.His442fs)	rs2107101318
NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys)	rs1172486173
NM_005051.3(QARS1):c.1526+1G>A	rs372844870
NM_005051.3(QARS1):c.1527-2A>G	rs1331307146
NM_005051.3(QARS1):c.1614+2T>C
NM_005051.3(QARS1):c.1615-2A>T	rs369802930
NM_005051.3(QARS1):c.2084+1G>T
NM_005051.3(QARS1):c.2084+2_2084+3del	rs2107095933
NM_005051.3(QARS1):c.2085-2A>G
NM_005051.3(QARS1):c.2085-3C>A	rs1024765171
NM_005051.3(QARS1):c.376-1G>A	rs2107112006
NM_005051.3(QARS1):c.533G>T (p.Gly178Val)	rs2107109028
NM_005051.3(QARS1):c.570+1G>A	rs2107108875
NM_005051.3(QARS1):c.631+1G>C	rs1230015326
NM_005051.3(QARS1):c.787_789+3del
NM_005051.3(QARS1):c.789+1G>T	rs2042472129

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.