ClinVar Miner

List of variants reported as uncertain significance for Colorectal cancer, susceptibility to, 10 by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_002691.4(POLD1):c.653G>A (p.Arg218His) rs150010804 0.00042
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_002691.4(POLD1):c.3257G>A (p.Arg1086Gln) rs3219457 0.00025
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys) rs200931999 0.00016
NM_002691.4(POLD1):c.1574G>A (p.Arg525Gln) rs372190244 0.00007
NM_002691.4(POLD1):c.2178G>C (p.Gln726His) rs747483140 0.00007
NM_002691.4(POLD1):c.1696G>A (p.Glu566Lys) rs372429157 0.00006
NM_002691.4(POLD1):c.1607C>T (p.Ala536Val) rs779735891 0.00005
NM_002691.4(POLD1):c.2717+15G>A rs372493810 0.00005
NM_002691.4(POLD1):c.1295G>A (p.Arg432Gln) rs139557851 0.00004
NM_002691.4(POLD1):c.1028G>A (p.Arg343His) rs140539427 0.00003
NM_002691.4(POLD1):c.1762G>A (p.Glu588Lys) rs746649739 0.00002
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) rs144707871 0.00001
NM_002691.4(POLD1):c.2773G>A (p.Val925Met) rs746950229 0.00001
NM_002691.4(POLD1):c.2794G>C (p.Gly932Arg) rs761355038 0.00001
NM_002691.4(POLD1):c.2803G>A (p.Ala935Thr) rs555452657 0.00001
NM_002691.4(POLD1):c.2933G>A (p.Arg978His) rs371628260 0.00001
NM_002691.4(POLD1):c.670C>T (p.Arg224Cys) rs768253410 0.00001
NM_002691.4(POLD1):c.745G>A (p.Asp249Asn) rs1007807839 0.00001
NM_002691.4(POLD1):c.964C>T (p.Arg322Cys) rs750155990 0.00001
NM_002691.4(POLD1):c.1109G>A (p.Ser370Asn) rs868850526
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.2429C>A (p.Ala810Glu) rs765981178
NM_002691.4(POLD1):c.2563C>G (p.Arg855Gly) rs768048535
NM_002691.4(POLD1):c.3293G>T (p.Arg1098Leu) rs878854552
NM_002691.4(POLD1):c.623C>T (p.Pro208Leu) rs774030917

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.