List of variants in gene POLE reported as likely benign by True Health Diagnostics

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_006231.4(POLE):c.3379-5T>C	rs5744886	0.02670
NM_006231.4(POLE):c.3126G>A (p.Lys1042=)	rs5744856	0.02344
NM_006231.4(POLE):c.4290+5C>T	rs5744936	0.02053
NM_006231.4(POLE):c.2340G>A (p.Ser780=)	rs5744822	0.02051
NM_006231.4(POLE):c.2550C>T (p.Ile850=)	rs5744834	0.01438
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys)	rs5745066	0.01416
NM_006231.4(POLE):c.5678+4C>T	rs5744973	0.01405
NM_006231.4(POLE):c.91G>T (p.Ala31Ser)	rs34047482	0.01320
NM_006231.4(POLE):c.2174-8G>A	rs117409343	0.01137
NM_006231.4(POLE):c.2928C>T (p.Arg976=)	rs5744845	0.00958
NM_006231.4(POLE):c.5583A>C (p.Ser1861=)	rs5744972	0.00949
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr)	rs5744991	0.00898
NM_006231.4(POLE):c.776G>A (p.Arg259His)	rs61732929	0.00604
NM_006231.4(POLE):c.6494G>A (p.Arg2165His)	rs5745068	0.00550
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe)	rs73155056	0.00513
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser)	rs73481453	0.00444
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val)	rs5744950	0.00346
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)	rs41561818	0.00325
NM_006231.4(POLE):c.123G>A (p.Thr41=)	rs5744734	0.00320
NM_006231.4(POLE):c.846C>T (p.Pro282=)	rs5744758	0.00291
NM_006231.4(POLE):c.5334C>T (p.Ala1778=)	rs11146986	0.00205
NM_006231.4(POLE):c.2106G>T (p.Gly702=)	rs5744801	0.00198
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=)	rs116076060	0.00167
NM_006231.4(POLE):c.1323G>A (p.Pro441=)	rs116573514	0.00106
NM_006231.4(POLE):c.1347G>A (p.Thr449=)	rs142373951	0.00094
NM_006231.4(POLE):c.5496T>C (p.Leu1832=)	rs147543146	0.00029
NM_006231.4(POLE):c.6004+5G>T	rs372169366	0.00014
NM_006231.4(POLE):c.5595C>T (p.Tyr1865=)	rs370958363	0.00004
NM_006231.4(POLE):c.1878C>T (p.Asp626=)	rs771910847	0.00003
NM_006231.4(POLE):c.2982C>T (p.Leu994=)	rs771463033	0.00001
NM_006231.4(POLE):c.369G>A (p.Lys123=)	rs1328407908	0.00001
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile)	rs5744799
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg)	rs5744971

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.