ClinVar Miner

List of variants in gene AARS1 reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.*324G>A rs141837805 0.00173
NM_001605.2(AARS1):c.-108T>C rs779683414 0.00135
NM_001605.3(AARS1):c.*131G>A rs555883502 0.00021
NM_001605.3(AARS1):c.1493-7T>C rs376087556 0.00019
NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys) rs147433234 0.00010
NM_001605.3(AARS1):c.333+3A>C rs747431164 0.00010
NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys) rs372221218 0.00005
NM_001605.3(AARS1):c.*169C>G rs554221793 0.00003
NM_001605.3(AARS1):c.518A>G (p.Asp173Gly) rs765398055 0.00003
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met) rs762241422 0.00002
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg) rs769182022 0.00002
NM_001605.3(AARS1):c.2129C>T (p.Pro710Leu) rs754391789 0.00002
NM_001605.3(AARS1):c.2596G>A (p.Ala866Thr) rs374478964 0.00002
NM_001605.3(AARS1):c.828C>G (p.Ala276=) rs914414911 0.00002
NM_001605.3(AARS1):c.*32T>C rs771868425 0.00001
NM_001605.3(AARS1):c.1059C>T (p.Val353=) rs1054385792 0.00001
NM_001605.3(AARS1):c.1110G>C (p.Met370Ile) rs1468385890 0.00001
NM_001605.3(AARS1):c.1120A>G (p.Ile374Val) rs142128800 0.00001
NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys) rs764124393 0.00001
NM_001605.3(AARS1):c.2109G>C (p.Val703=) rs777499923 0.00001
NM_001605.3(AARS1):c.2113G>A (p.Glu705Lys) rs1223915249 0.00001
NM_001605.3(AARS1):c.2378G>C (p.Arg793Thr) rs886052253 0.00001
NM_001605.3(AARS1):c.63C>T (p.Asn21=) rs773045737 0.00001
NM_001605.3(AARS1):c.806C>G (p.Ala269Gly) rs769239545 0.00001
NM_001605.3(AARS1):c.91A>G (p.Thr31Ala) rs886052256 0.00001
NM_001605.3(AARS1):c.946G>T (p.Asp316Tyr) rs750331983 0.00001
NM_001605.3(AARS1):c.962+15C>T rs779150762 0.00001
NM_001605.3(AARS1):c.1587G>A (p.Leu529=) rs886052255
NM_001605.3(AARS1):c.1596C>A (p.Thr532=) rs142181559
NM_001605.3(AARS1):c.1611G>T (p.Glu537Asp) rs371617479
NM_001605.3(AARS1):c.1762C>T (p.Gln588Ter) rs146946034
NM_001605.3(AARS1):c.1765G>T (p.Val589Phe)
NM_001605.3(AARS1):c.212A>G (p.Asn71Ser) rs757167895
NM_001605.3(AARS1):c.2240A>G (p.Lys747Arg) rs886052254
NM_001605.3(AARS1):c.2401-11A>G rs377576408
NM_001605.3(AARS1):c.2421C>A (p.Ile807=) rs768412428
NM_001605.3(AARS1):c.342A>C (p.Ala114=) rs190680402
NM_001605.3(AARS1):c.480-8T>G rs751472610
NM_001605.3(AARS1):c.501C>T (p.Leu167=) rs1567608510

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.