ClinVar Miner

List of variants studied for intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 224
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.3582+17A>G rs5744889 0.97472
NM_006231.4(POLE):c.5553-43T>C rs5744970 0.68901
NM_006231.4(POLE):c.5812-21G>A rs5745005 0.67309
NM_006231.4(POLE):c.6252A>G (p.Ser2084=) rs5745022 0.66039
NM_006231.4(POLE):c.910-6G>C rs4077170 0.64353
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.2562-48T>C rs4883592 0.53563
NM_006231.4(POLE):c.5173+39G>A rs5744951 0.51836
NM_006231.4(POLE):c.1359+43G>A rs4883555 0.50908
NM_006231.4(POLE):c.2864+37A>G rs5744844 0.50901
NM_006231.4(POLE):c.6330+15G>A rs5745023 0.49667
NM_006231.4(POLE):c.62+15C>T rs2075784 0.43566
NM_006231.4(POLE):c.6657+16C>T rs5745075 0.34836
NM_006231.4(POLE):c.4187A>G (p.Asn1396Ser) rs5744934 0.12807
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 0.01405
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00498
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.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_006231.4(POLE):c.846C>T (p.Pro282=) rs5744758 0.00291
NM_006231.4(POLE):c.2561+6T>C rs116231808 0.00179
NM_006231.4(POLE):c.5124C>T (p.Phe1708=) rs114891564 0.00149
NM_006231.4(POLE):c.6495C>T (p.Arg2165=) rs114778730 0.00053
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr) rs146711942 0.00034
NM_006231.4(POLE):c.3971G>A (p.Arg1324His) rs143981093 0.00032
NM_006231.4(POLE):c.691C>T (p.Arg231Cys) rs146592584 0.00023
NM_006231.4(POLE):c.1A>C (p.Met1Leu) rs878854847 0.00019
NM_006231.4(POLE):c.5636G>A (p.Arg1879His) rs145621558 0.00018
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_006231.4(POLE):c.3716A>G (p.Gln1239Arg) rs146210785 0.00016
NM_006231.4(POLE):c.1583C>T (p.Thr528Met) rs116263919 0.00014
NM_006231.4(POLE):c.2487G>A (p.Met829Ile) rs372109189 0.00014
NM_006231.4(POLE):c.6531+5G>A rs368538240 0.00013
NM_006231.4(POLE):c.1064A>G (p.Lys355Arg) rs141396559 0.00012
NM_006231.4(POLE):c.6274G>A (p.Gly2092Ser) rs757559474 0.00012
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_006231.4(POLE):c.2773T>C (p.Ser925Pro) rs141552148 0.00010
NM_006231.4(POLE):c.6454G>A (p.Val2152Met) rs138789360 0.00010
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe) rs375741031 0.00010
NM_006231.4(POLE):c.718G>A (p.Val240Met) rs371882716 0.00010
NM_006231.4(POLE):c.314A>G (p.Tyr105Cys) rs1451750169 0.00009
NM_006231.4(POLE):c.431A>G (p.His144Arg) rs755709875 0.00009
NM_006231.4(POLE):c.4168C>T (p.Arg1390Cys) rs768504121 0.00008
NM_006231.4(POLE):c.4736G>A (p.Arg1579His) rs375590443 0.00008
NM_006231.4(POLE):c.3968C>T (p.Ala1323Val) rs550525366 0.00007
NM_006231.4(POLE):c.5516G>A (p.Arg1839His) rs370512955 0.00006
NM_006231.4(POLE):c.6716C>T (p.Ala2239Val) rs190813054 0.00006
NM_006231.4(POLE):c.1686+32C>G rs762985435 0.00005
NM_006231.4(POLE):c.2818A>G (p.Met940Val) rs148382941 0.00005
NM_006231.4(POLE):c.4011C>T (p.Ser1337=) rs756716850 0.00005
NM_006231.4(POLE):c.5206G>A (p.Val1736Ile) rs770181299 0.00005
NM_006231.4(POLE):c.6124G>A (p.Gly2042Arg) rs147954675 0.00005
NM_006231.4(POLE):c.2054G>A (p.Arg685Gln) rs770597683 0.00004
NM_006231.4(POLE):c.20G>A (p.Gly7Glu) rs929537284 0.00004
NM_006231.4(POLE):c.2599G>A (p.Val867Ile) rs374200895 0.00004
NM_006231.4(POLE):c.2770C>T (p.Arg924Cys) rs369751686 0.00004
NM_006231.4(POLE):c.3778G>A (p.Ala1260Thr) rs143858927 0.00004
NM_006231.4(POLE):c.4267A>G (p.Ile1423Val) rs139498590 0.00004
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln) rs754518522 0.00004
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser) rs150545516 0.00004
NM_006231.4(POLE):c.4493C>T (p.Ala1498Val) rs751465593 0.00004
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985 0.00004
NM_006231.4(POLE):c.461G>A (p.Arg154Lys) rs769882912 0.00004
NM_006231.4(POLE):c.5662G>A (p.Glu1888Lys) rs368363850 0.00004
NM_006231.4(POLE):c.720+16T>C rs200320553 0.00004
NM_006231.4(POLE):c.-47G>T rs1014146082 0.00003
NM_006231.4(POLE):c.301A>G (p.Lys101Glu) rs560654523 0.00003
NM_006231.4(POLE):c.3228C>T (p.Cys1076=) rs767929667 0.00003
NM_006231.4(POLE):c.3668C>T (p.Pro1223Leu) rs766806062 0.00003
NM_006231.4(POLE):c.4106A>G (p.Asn1369Ser) rs746524982 0.00003
NM_006231.4(POLE):c.4112G>A (p.Arg1371Gln) rs535074635 0.00003
NM_006231.4(POLE):c.5478G>T (p.Arg1826=) rs537648186 0.00003
NM_006231.4(POLE):c.5797A>G (p.Ile1933Val) rs758762868 0.00003
NM_006231.4(POLE):c.5988C>G (p.Phe1996Leu) rs756828876 0.00003
NM_006231.4(POLE):c.6049C>T (p.Arg2017Cys) rs115452769 0.00003
NM_006231.4(POLE):c.6119C>T (p.Ala2040Val) rs5745021 0.00003
NM_006231.4(POLE):c.1940A>T (p.Asp647Val) rs1060500884 0.00002
NM_006231.4(POLE):c.1949C>T (p.Thr650Ile) rs115559742 0.00002
NM_006231.4(POLE):c.302A>G (p.Lys101Arg) rs1016258970 0.00002
NM_006231.4(POLE):c.318T>C (p.Ile106=) rs770759936 0.00002
NM_006231.4(POLE):c.34G>A (p.Asp12Asn) rs1355767159 0.00002
NM_006231.4(POLE):c.3614C>T (p.Pro1205Leu) rs772686048 0.00002
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln) rs201738371 0.00002
NM_006231.4(POLE):c.3745G>A (p.Val1249Met) rs762626359 0.00002
NM_006231.4(POLE):c.3890C>T (p.Ser1297Leu) rs746585658 0.00002
NM_006231.4(POLE):c.3989C>T (p.Pro1330Leu) rs1409584745 0.00002
NM_006231.4(POLE):c.4199A>G (p.Tyr1400Cys) rs370971579 0.00002
NM_006231.4(POLE):c.4270G>A (p.Glu1424Lys) rs575419120 0.00002
NM_006231.4(POLE):c.5267T>A (p.Ile1756Asn) rs199535980 0.00002
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp) rs771980261 0.00002
NM_006231.4(POLE):c.6434G>A (p.Arg2145Gln) rs770009143 0.00002
NM_006231.4(POLE):c.6605C>T (p.Thr2202Met) rs764457707 0.00002
NM_006231.4(POLE):c.6796G>A (p.Gly2266Ser) rs200911338 0.00002
NM_006231.4(POLE):c.724C>T (p.His242Tyr) rs148525573 0.00002
NM_006231.4(POLE):c.109C>T (p.Arg37Trp) rs753101641 0.00001
NM_006231.4(POLE):c.1591G>A (p.Gly531Arg) rs748489355 0.00001
NM_006231.4(POLE):c.1687-3T>G rs148115738 0.00001
NM_006231.4(POLE):c.1741G>T (p.Ala581Ser) rs755090755 0.00001
NM_006231.4(POLE):c.1760A>G (p.Lys587Arg) rs750826256 0.00001
NM_006231.4(POLE):c.1935G>A (p.Met645Ile) rs561707898 0.00001
NM_006231.4(POLE):c.2020G>A (p.Glu674Lys) rs779458859 0.00001
NM_006231.4(POLE):c.2049C>G (p.Tyr683Ter) rs1196356920 0.00001
NM_006231.4(POLE):c.2123A>G (p.His708Arg) rs2042844365 0.00001
NM_006231.4(POLE):c.2182C>T (p.Arg728Trp) rs1020252487 0.00001
NM_006231.4(POLE):c.218A>G (p.Asp73Gly) rs1060500786 0.00001
NM_006231.4(POLE):c.2225G>A (p.Arg742His) rs116360781 0.00001
NM_006231.4(POLE):c.2275C>T (p.Arg759Cys) rs759398253 0.00001
NM_006231.4(POLE):c.229C>T (p.Arg77Cys) rs1060500889 0.00001
NM_006231.4(POLE):c.2327A>G (p.Lys776Arg) rs375791061 0.00001
NM_006231.4(POLE):c.2335C>T (p.Leu779Phe) rs747478766 0.00001
NM_006231.4(POLE):c.2551G>A (p.Glu851Lys) rs903152944 0.00001
NM_006231.4(POLE):c.266A>C (p.Asp89Ala) rs756843283 0.00001
NM_006231.4(POLE):c.2706+5G>A rs375931088 0.00001
NM_006231.4(POLE):c.2711G>C (p.Gly904Ala) rs1332965505 0.00001
NM_006231.4(POLE):c.271G>A (p.Gly91Arg) rs1316316435 0.00001
NM_006231.4(POLE):c.3089T>A (p.Phe1030Tyr) rs1565956275 0.00001
NM_006231.4(POLE):c.3109C>T (p.Arg1037Cys) rs948001596 0.00001
NM_006231.4(POLE):c.3219G>T (p.Gly1073=) rs760636704 0.00001
NM_006231.4(POLE):c.3401T>C (p.Ile1134Thr) rs1054915845 0.00001
NM_006231.4(POLE):c.3612T>G (p.Ser1204Arg) rs773580533 0.00001
NM_006231.4(POLE):c.3850C>T (p.Arg1284Trp) rs753426630 0.00001
NM_006231.4(POLE):c.3901G>A (p.Val1301Met) rs112098447 0.00001
NM_006231.4(POLE):c.3938C>T (p.Thr1313Met) rs949243552 0.00001
NM_006231.4(POLE):c.4027G>A (p.Gly1343Ser) rs556821288 0.00001
NM_006231.4(POLE):c.4144C>T (p.Arg1382Cys) rs5744904 0.00001
NM_006231.4(POLE):c.415C>T (p.Leu139=) rs1302399839 0.00001
NM_006231.4(POLE):c.4172C>G (p.Ser1391Cys) rs149145495 0.00001
NM_006231.4(POLE):c.4276G>A (p.Val1426Ile) rs775072147 0.00001
NM_006231.4(POLE):c.44C>T (p.Ala15Val) rs1565986587 0.00001
NM_006231.4(POLE):c.452A>G (p.Asn151Ser) rs969812647 0.00001
NM_006231.4(POLE):c.4789G>A (p.Ala1597Thr) rs752184541 0.00001
NM_006231.4(POLE):c.4952+4A>G rs962068207 0.00001
NM_006231.4(POLE):c.5023C>T (p.Arg1675Cys) rs1027297469 0.00001
NM_006231.4(POLE):c.5032C>T (p.Gln1678Ter) rs1301816028 0.00001
NM_006231.4(POLE):c.5084G>A (p.Gly1695Asp) rs920535000 0.00001
NM_006231.4(POLE):c.5492T>C (p.Leu1831Pro) rs781674901 0.00001
NM_006231.4(POLE):c.5559C>T (p.Ile1853=) rs1032264693 0.00001
NM_006231.4(POLE):c.5608C>T (p.Arg1870Cys) rs138231414 0.00001
NM_006231.4(POLE):c.5633G>A (p.Arg1878His) rs374022997 0.00001
NM_006231.4(POLE):c.5900C>T (p.Ala1967Val) rs201273415 0.00001
NM_006231.4(POLE):c.595G>A (p.Gly199Ser) rs776540681 0.00001
NM_006231.4(POLE):c.6073G>A (p.Val2025Met) rs995579204 0.00001
NM_006231.4(POLE):c.6323T>C (p.Val2108Ala) rs370363095 0.00001
NM_006231.4(POLE):c.6475C>T (p.Arg2159Cys) rs5745067 0.00001
NM_006231.4(POLE):c.6628A>C (p.Lys2210Gln) rs1284697545 0.00001
NM_006231.4(POLE):c.6734C>G (p.Thr2245Ser) rs747676884 0.00001
NM_006231.4(POLE):c.712A>T (p.Ile238Phe) rs536684123 0.00001
NM_006231.4(POLE):c.907C>T (p.Gln303Ter) rs749117997 0.00001
NM_006231.4(POLE):c.94C>T (p.Leu32Phe) rs781513537 0.00001
NM_006231.4(POLE):c.1138G>A (p.Gly380Ser) rs199746481
NM_006231.4(POLE):c.1171A>G (p.Lys391Glu)
NM_006231.4(POLE):c.1359+5G>A rs761564635
NM_006231.4(POLE):c.1651G>A (p.Val551Ile) rs2042956447
NM_006231.4(POLE):c.1693G>T (p.Ala565Ser) rs747247890
NM_006231.4(POLE):c.1708C>A (p.Leu570Met) rs748807227
NM_006231.4(POLE):c.1772A>G (p.Glu591Gly) rs1555228119
NM_006231.4(POLE):c.1802A>T (p.Asp601Val) rs2042862564
NM_006231.4(POLE):c.1915C>T (p.Arg639Cys) rs1565966539
NM_006231.4(POLE):c.1916G>A (p.Arg639His) rs754616313
NM_006231.4(POLE):c.1936G>A (p.Val646Met) rs2042855097
NM_006231.4(POLE):c.1991A>C (p.Gln664Pro) rs1401873092
NM_006231.4(POLE):c.1A>G (p.Met1Val) rs878854847
NM_006231.4(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.4(POLE):c.2083T>C (p.Phe695Leu) rs5744799
NM_006231.4(POLE):c.2125G>A (p.Glu709Lys) rs1367402208
NM_006231.4(POLE):c.2371G>A (p.Val791Met)
NM_006231.4(POLE):c.2384A>G (p.Lys795Arg) rs867677414
NM_006231.4(POLE):c.2465_2467dup (p.Lys822_Gly823insGlu) rs1237046519
NM_006231.4(POLE):c.2865-4del rs369732588
NM_006231.4(POLE):c.2865-5_2865-4del rs369732588
NM_006231.4(POLE):c.297del (p.Tyr100fs) rs2043138492
NM_006231.4(POLE):c.2T>C (p.Met1Thr) rs879254126
NM_006231.4(POLE):c.3019G>C (p.Ala1007Pro) rs747692201
NM_006231.4(POLE):c.3310A>G (p.Thr1104Ala) rs2138663582
NM_006231.4(POLE):c.3446C>T (p.Ala1149Val) rs778212434
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.3725C>G (p.Ser1242Cys) rs373213156
NM_006231.4(POLE):c.4136C>T (p.Ala1379Val)
NM_006231.4(POLE):c.4153A>T (p.Asn1385Tyr) rs2042217919
NM_006231.4(POLE):c.4295C>T (p.Pro1432Leu) rs371712284
NM_006231.4(POLE):c.4337_4338dup (p.Val1447fs) rs758487568
NM_006231.4(POLE):c.4375G>T (p.Glu1459Ter) rs778238908
NM_006231.4(POLE):c.4476C>T (p.His1492=) rs5744943
NM_006231.4(POLE):c.4510A>T (p.Ile1504Phe) rs1555222899
NM_006231.4(POLE):c.4513C>G (p.Pro1505Ala) rs878854873
NM_006231.4(POLE):c.4552-10G>T rs5744946
NM_006231.4(POLE):c.4586T>C (p.Leu1529Pro)
NM_006231.4(POLE):c.4792A>C (p.Ser1598Arg) rs776538943
NM_006231.4(POLE):c.4802C>T (p.Pro1601Leu) rs1593731286
NM_006231.4(POLE):c.4823T>G (p.Leu1608Arg) rs1255478620
NM_006231.4(POLE):c.4844A>G (p.Asp1615Gly) rs2042174030
NM_006231.4(POLE):c.4888C>T (p.Arg1630Trp) rs148076304
NM_006231.4(POLE):c.5150A>G (p.Asn1717Ser) rs1028428160
NM_006231.4(POLE):c.5265del (p.Ile1756fs) rs1555222342
NM_006231.4(POLE):c.5321A>G (p.Gln1774Arg)
NM_006231.4(POLE):c.5378+4C>T rs1565935556
NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del) rs868246375
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.575C>A (p.Ser192Tyr)
NM_006231.4(POLE):c.5794C>T (p.Arg1932Cys) rs879254168
NM_006231.4(POLE):c.5908T>C (p.Ser1970Pro) rs1258796672
NM_006231.4(POLE):c.6005-12G>T
NM_006231.4(POLE):c.6068C>A (p.Thr2023Asn) rs771628123
NM_006231.4(POLE):c.6136G>A (p.Gly2046Arg) rs1462887616
NM_006231.4(POLE):c.6244G>A (p.Glu2082Lys) rs1285938402
NM_006231.4(POLE):c.6271C>T (p.Pro2091Ser) rs572252265
NM_006231.4(POLE):c.6308A>C (p.Glu2103Ala) rs1555220870
NM_006231.4(POLE):c.6322G>T (p.Val2108Leu) rs776551240
NM_006231.4(POLE):c.6334C>G (p.Leu2112Val) rs373443211
NM_006231.4(POLE):c.6398_6407del (p.Val2133fs) rs2138431829
NM_006231.4(POLE):c.6483dup (p.Asn2162Ter) rs2041834385
NM_006231.4(POLE):c.6491G>A (p.Cys2164Tyr) rs750401329
NM_006231.4(POLE):c.6571C>T (p.Gln2191Ter)
NM_006231.4(POLE):c.6792C>G (p.His2264Gln) rs1396625189
NM_006231.4(POLE):c.73G>T (p.Ala25Ser) rs773204331
NM_006231.4(POLE):c.797G>A (p.Arg266Gln) rs115786159
NM_006231.4(POLE):c.80C>T (p.Ser27Phe) rs1593088347
NM_006231.4(POLE):c.929G>T (p.Arg310Met)
NM_006231.4(POLE):c.955G>A (p.Asp319Asn) rs116162724

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.