ClinVar Miner

List of variants in gene CARS2 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln) rs112070421 0.00094
NM_024537.4(CARS2):c.1538G>A (p.Arg513Gln) rs138022576 0.00060
NM_024537.4(CARS2):c.540T>G (p.Ile180Met) rs145988159 0.00049
NM_024537.4(CARS2):c.1516G>A (p.Glu506Lys) rs368624802 0.00022
NM_024537.4(CARS2):c.1448T>G (p.Leu483Trp) rs766266851 0.00013
NM_024537.4(CARS2):c.1609G>A (p.Gly537Ser) rs777503937 0.00008
NM_024537.4(CARS2):c.446A>G (p.Gln149Arg) rs367861934 0.00008
NM_024537.4(CARS2):c.1589G>A (p.Arg530His) rs760818887 0.00006
NM_024537.4(CARS2):c.1646C>T (p.Thr549Met) rs371625448 0.00004
NM_024537.4(CARS2):c.466G>T (p.Val156Phe) rs148098469 0.00003
NM_024537.4(CARS2):c.1112G>A (p.Gly371Asp) rs765515018 0.00002
NM_024537.4(CARS2):c.1061A>G (p.Asp354Gly) rs745633983 0.00001
NM_024537.4(CARS2):c.1318-10T>A rs773908976 0.00001
NM_024537.4(CARS2):c.1537C>T (p.Arg513Trp) rs143777330 0.00001
NM_024537.4(CARS2):c.649_651del (p.Glu217del) rs753472937 0.00001
NM_024537.4(CARS2):c.1060G>A (p.Asp354Asn)
NM_024537.4(CARS2):c.1117T>A (p.Phe373Ile)
NM_024537.4(CARS2):c.1438G>C (p.Glu480Gln) rs192532265
NM_024537.4(CARS2):c.1489dup (p.Val497fs) rs1328662776
NM_024537.4(CARS2):c.1552G>C (p.Glu518Gln)
NM_024537.4(CARS2):c.1683dup (p.Ser562fs) rs575601185
NM_024537.4(CARS2):c.393+5G>A rs2139928226
NM_024537.4(CARS2):c.465+5A>C
NM_024537.4(CARS2):c.617A>C (p.Lys206Thr) rs2139839821
NM_024537.4(CARS2):c.856G>A (p.Glu286Lys)
NM_024537.4(CARS2):c.938G>A (p.Gly313Asp)

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.