ClinVar Miner

List of variants studied 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 by Department of Pathology and Laboratory Medicine, Sinai Health System

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 133
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.3156G>A (p.Thr1052=) rs5744857 0.53577
NM_006231.4(POLE):c.4530A>G (p.Ala1510=) rs5744944 0.53564
NM_006231.4(POLE):c.5707C>T (p.Leu1903=) rs5744990 0.15256
NM_006231.4(POLE):c.755C>T (p.Ala252Val) rs5744751 0.07688
NM_006231.4(POLE):c.51C>G (p.Gly17=) rs780436496 0.00240
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
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.1583C>T (p.Thr528Met) rs116263919 0.00014
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.3725C>T (p.Ser1242Phe) rs373213156 0.00009
NM_006231.4(POLE):c.4047G>A (p.Ala1349=) rs201746181 0.00009
NM_006231.4(POLE):c.431A>G (p.His144Arg) rs755709875 0.00009
NM_006231.4(POLE):c.5278G>A (p.Val1760Met) rs373272795 0.00009
NM_006231.4(POLE):c.1868A>G (p.Tyr623Cys) rs150564856 0.00008
NM_006231.4(POLE):c.4168C>T (p.Arg1390Cys) rs768504121 0.00008
NM_006231.4(POLE):c.378C>A (p.Gly126=) rs374163231 0.00007
NM_006231.4(POLE):c.122C>T (p.Thr41Met) rs148269473 0.00006
NM_006231.4(POLE):c.179C>T (p.Thr60Ile) rs772684226 0.00006
NM_006231.4(POLE):c.3857G>A (p.Arg1286His) rs771823596 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.2038C>T (p.Arg680Cys) rs764044031 0.00004
NM_006231.4(POLE):c.2054G>A (p.Arg685Gln) rs770597683 0.00004
NM_006231.4(POLE):c.2333A>C (p.Lys778Thr) rs868832791 0.00004
NM_006231.4(POLE):c.2763C>T (p.Tyr921=) rs767254003 0.00004
NM_006231.4(POLE):c.2770C>T (p.Arg924Cys) rs369751686 0.00004
NM_006231.4(POLE):c.3183C>T (p.Ala1061=) rs751756901 0.00004
NM_006231.4(POLE):c.4306C>T (p.Arg1436Trp) rs764904030 0.00004
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln) rs754518522 0.00004
NM_006231.4(POLE):c.1108C>A (p.Pro370Thr) rs576578672 0.00003
NM_006231.4(POLE):c.1584G>A (p.Thr528=) rs371824210 0.00003
NM_006231.4(POLE):c.1588G>A (p.Asp530Asn) rs753660907 0.00003
NM_006231.4(POLE):c.2599G>A (p.Val867Ile) rs374200895 0.00003
NM_006231.4(POLE):c.5478G>T (p.Arg1826=) rs537648186 0.00003
NM_006231.4(POLE):c.5988C>G (p.Phe1996Leu) rs756828876 0.00003
NM_006231.4(POLE):c.6804G>A (p.Ser2268=) rs544223319 0.00003
NM_006231.4(POLE):c.710A>G (p.Lys237Arg) rs879762286 0.00003
NM_006231.4(POLE):c.2792T>C (p.Phe931Ser) rs376546593 0.00002
NM_006231.4(POLE):c.4046C>T (p.Ala1349Val) rs536988344 0.00002
NM_006231.4(POLE):c.4876C>T (p.Arg1626Cys) rs753713315 0.00002
NM_006231.4(POLE):c.6166G>A (p.Ala2056Thr) rs58916399 0.00002
NM_006231.4(POLE):c.712A>T (p.Ile238Phe) rs536684123 0.00002
NM_006231.4(POLE):c.1197G>A (p.Ala399=) rs1000162996 0.00001
NM_006231.4(POLE):c.1322C>T (p.Pro441Leu) rs775340163 0.00001
NM_006231.4(POLE):c.1396A>G (p.Thr466Ala) rs761765763 0.00001
NM_006231.4(POLE):c.1485G>A (p.Lys495=) rs116062148 0.00001
NM_006231.4(POLE):c.1516A>G (p.Met506Val) rs773634913 0.00001
NM_006231.4(POLE):c.1675C>T (p.Arg559Trp) rs753784391 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.241G>A (p.Ala81Thr) rs749720207 0.00001
NM_006231.4(POLE):c.2442C>T (p.Ser814=) rs377036799 0.00001
NM_006231.4(POLE):c.2540G>A (p.Arg847Gln) rs534297483 0.00001
NM_006231.4(POLE):c.2682C>T (p.Gly894=) rs757453683 0.00001
NM_006231.4(POLE):c.2771G>A (p.Arg924His) rs763594644 0.00001
NM_006231.4(POLE):c.2877C>T (p.Phe959=) rs770453296 0.00001
NM_006231.4(POLE):c.3122G>A (p.Arg1041Gln) rs774645622 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.341G>A (p.Arg114Gln) rs375785166 0.00001
NM_006231.4(POLE):c.3677C>T (p.Pro1226Leu) rs1390451656 0.00001
NM_006231.4(POLE):c.4139C>T (p.Ser1380Leu) rs762090058 0.00001
NM_006231.4(POLE):c.4455C>T (p.Arg1485=) rs750833365 0.00001
NM_006231.4(POLE):c.4555C>T (p.Arg1519Cys) rs542430685 0.00001
NM_006231.4(POLE):c.4724A>G (p.Tyr1575Cys) rs1008362127 0.00001
NM_006231.4(POLE):c.4744C>T (p.Pro1582Ser) rs556887600 0.00001
NM_006231.4(POLE):c.5131C>A (p.Gln1711Lys) rs774619692 0.00001
NM_006231.4(POLE):c.5275G>A (p.Asp1759Asn) rs768559928 0.00001
NM_006231.4(POLE):c.5312C>T (p.Thr1771Met) rs777695766 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.547G>A (p.Ala183Thr) rs993340577 0.00001
NM_006231.4(POLE):c.5632C>T (p.Arg1878Cys) rs199979862 0.00001
NM_006231.4(POLE):c.6065G>A (p.Ser2022Asn) rs905858506 0.00001
NM_006231.4(POLE):c.6286C>G (p.Leu2096Val) rs1049603207 0.00001
NM_006231.4(POLE):c.6317A>G (p.Lys2106Arg) rs762471347 0.00001
NM_006231.4(POLE):c.6384C>A (p.Asp2128Glu) rs758101414 0.00001
NM_006231.4(POLE):c.6460C>T (p.Pro2154Ser) rs778456846 0.00001
NM_006231.4(POLE):c.6673C>T (p.Arg2225Cys) rs765125852 0.00001
NM_006231.4(POLE):c.775C>T (p.Arg259Cys) rs777638541 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.1661G>A (p.Ser554Asn) rs1028317886
NM_006231.4(POLE):c.1669C>G (p.Pro557Ala)
NM_006231.4(POLE):c.1676G>C (p.Arg559Pro)
NM_006231.4(POLE):c.1695C>A (p.Ala565=) rs139748472
NM_006231.4(POLE):c.1707C>G (p.Phe569Leu) rs147438050
NM_006231.4(POLE):c.186G>T (p.Trp62Cys)
NM_006231.4(POLE):c.1924C>A (p.Pro642Thr) rs1178412345
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.2083T>G (p.Phe695Val) rs5744799
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.242C>T (p.Ala81Val) rs780246896
NM_006231.4(POLE):c.2734_2735delinsAT (p.Glu912Met) rs2135949435
NM_006231.4(POLE):c.2785A>G (p.Ile929Val) rs765066823
NM_006231.4(POLE):c.3279C>T (p.Ala1093=) rs1057521217
NM_006231.4(POLE):c.3283C>A (p.Pro1095Thr)
NM_006231.4(POLE):c.3342C>T (p.Leu1114=) rs769584721
NM_006231.4(POLE):c.3465G>T (p.Lys1155Asn) rs1449239461
NM_006231.4(POLE):c.3479G>C (p.Arg1160Pro)
NM_006231.4(POLE):c.3657G>A (p.Lys1219=) rs1593751325
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.4031T>C (p.Leu1344Pro) rs368111350
NM_006231.4(POLE):c.4110G>A (p.Gln1370=)
NM_006231.4(POLE):c.4225G>A (p.Glu1409Lys) rs1060500845
NM_006231.4(POLE):c.4287T>C (p.Thr1429=) rs1060504044
NM_006231.4(POLE):c.4295C>T (p.Pro1432Leu) rs371712284
NM_006231.4(POLE):c.4409T>C (p.Met1470Thr) rs2138550452
NM_006231.4(POLE):c.4640C>T (p.Pro1547Leu)
NM_006231.4(POLE):c.4643C>T (p.Pro1548Leu) rs779475320
NM_006231.4(POLE):c.4645C>A (p.Pro1549Thr) rs147500308
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.4(POLE):c.5008G>A (p.Asp1670Asn) rs1060500823
NM_006231.4(POLE):c.5237A>G (p.Asn1746Ser) rs377461656
NM_006231.4(POLE):c.5478G>A (p.Arg1826=) rs537648186
NM_006231.4(POLE):c.5525A>G (p.His1842Arg) rs1060500795
NM_006231.4(POLE):c.5773A>C (p.Ile1925Leu) rs2042022859
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.6608T>C (p.Leu2203Pro)
NM_006231.4(POLE):c.6651G>A (p.Gln2217=) rs1593696233
NM_006231.4(POLE):c.6754A>C (p.Met2252Leu) rs759660507
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585
NM_006231.4(POLE):c.718G>C (p.Val240Leu) rs371882716
NM_006231.4(POLE):c.787C>A (p.Leu263Ile) rs2043077432
NM_006231.4(POLE):c.825C>G (p.Asp275Glu) rs1483809345
NM_006231.4(POLE):c.944A>G (p.Glu315Gly) rs2542167677
NM_006231.4(POLE):c.965T>G (p.Phe322Cys)
NM_021807.4(EXOC4):c.1418-70589_1418-70578delinsA

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.