ClinVar Miner

List of variants reported as likely benign for Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_006231.4(POLE):c.6330+18C>T rs5745024 0.01301
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00487
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00461
NM_006231.4(POLE):c.1359+18C>T rs5744775 0.00455
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_006231.4(POLE):c.846C>T (p.Pro282=) rs5744758 0.00291
NM_006231.4(POLE):c.51C>G (p.Gly17=) rs780436496 0.00240
NM_006231.4(POLE):c.2561+6T>C rs116231808 0.00179
NM_006231.4(POLE):c.5124C>T (p.Phe1708=) rs114891564 0.00140
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006231.4(POLE):c.6495C>T (p.Arg2165=) rs114778730 0.00052
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn) rs149029910 0.00041
NM_006231.4(POLE):c.252C>T (p.Tyr84=) rs148838481 0.00015
NM_006231.4(POLE):c.2935C>T (p.Leu979=) rs56081968 0.00013
NM_006231.4(POLE):c.3049C>T (p.Leu1017=) rs371831931 0.00009
NM_006231.4(POLE):c.4047G>A (p.Ala1349=) rs201746181 0.00009
NM_006231.4(POLE):c.378C>A (p.Gly126=) rs374163231 0.00007
NM_006231.4(POLE):c.720+16T>C rs200320553 0.00006
NM_006231.4(POLE):c.4011C>T (p.Ser1337=) rs756716850 0.00005
NM_006231.4(POLE):c.5007C>T (p.Ser1669=) rs146761597 0.00005
NM_006231.4(POLE):c.1014C>T (p.Pro338=) rs143102561 0.00004
NM_006231.4(POLE):c.2763C>T (p.Tyr921=) rs767254003 0.00004
NM_006231.4(POLE):c.3183C>T (p.Ala1061=) rs751756901 0.00004
NM_006231.4(POLE):c.1584G>A (p.Thr528=) rs371824210 0.00003
NM_006231.4(POLE):c.3228C>T (p.Cys1076=) rs767929667 0.00003
NM_006231.4(POLE):c.5478G>T (p.Arg1826=) rs537648186 0.00003
NM_006231.4(POLE):c.6804G>A (p.Ser2268=) rs544223319 0.00003
NM_006231.4(POLE):c.318T>C (p.Ile106=) rs770759936 0.00002
NM_006231.4(POLE):c.1197G>A (p.Ala399=) rs1000162996 0.00001
NM_006231.4(POLE):c.1485G>A (p.Lys495=) rs116062148 0.00001
NM_006231.4(POLE):c.2043C>T (p.Ser681=) rs554997781 0.00001
NM_006231.4(POLE):c.2361C>T (p.Asp787=) rs1060504070 0.00001
NM_006231.4(POLE):c.2442C>T (p.Ser814=) rs377036799 0.00001
NM_006231.4(POLE):c.2877C>T (p.Phe959=) rs770453296 0.00001
NM_006231.4(POLE):c.321G>A (p.Ala107=) rs752370920 0.00001
NM_006231.4(POLE):c.3327T>C (p.Phe1109=) rs748049159 0.00001
NM_006231.4(POLE):c.415C>T (p.Leu139=) rs1302399839 0.00001
NM_006231.4(POLE):c.4455C>T (p.Arg1485=) rs750833365 0.00001
NM_006231.4(POLE):c.4744C>T (p.Pro1582Ser) rs556887600 0.00001
NM_006231.4(POLE):c.5364C>T (p.Cys1788=) rs5744955 0.00001
NM_006231.4(POLE):c.5421C>T (p.Thr1807=) rs1005814484 0.00001
NM_006231.4(POLE):c.5559C>T (p.Ile1853=) rs1032264693 0.00001
NM_006231.4(POLE):c.1476G>A (p.Val492=)
NM_006231.4(POLE):c.1524G>A (p.Gln508=)
NM_006231.4(POLE):c.1695C>A (p.Ala565=) rs139748472
NM_006231.4(POLE):c.1986C>T (p.Asn662=) rs2542101805
NM_006231.4(POLE):c.207C>T (p.Thr69=) rs146986360
NM_006231.4(POLE):c.2088C>A (p.Pro696=) rs2135975598
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala) rs5744800
NM_006231.4(POLE):c.2865-5_2865-4del rs369732588
NM_006231.4(POLE):c.3279C>T (p.Ala1093=) rs1057521217
NM_006231.4(POLE):c.3342C>T (p.Leu1114=) rs769584721
NM_006231.4(POLE):c.3657G>A (p.Lys1219=) rs1593751325
NM_006231.4(POLE):c.4287T>C (p.Thr1429=) rs1060504044
NM_006231.4(POLE):c.4476C>T (p.His1492=) rs5744943
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.4(POLE):c.5478G>A (p.Arg1826=) rs537648186
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.5916G>A (p.Val1972=) rs1060504057
NM_006231.4(POLE):c.6237C>T (p.Asn2079=) rs1349472933
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585
NM_006231.4(POLE):c.718G>C (p.Val240Leu) rs371882716

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.