ClinVar Miner

List of variants in gene GLI2 reported as uncertain significance for congenital nervous system disorder

Included ClinVar conditions (854):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 270
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HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.2865T>A (p.Pro955=) rs747247646 0.00176
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His) rs149091975 0.00053
NM_001374353.1(GLI2):c.*1332T>C rs150397467 0.00036
NM_001374353.1(GLI2):c.392G>A (p.Arg131His) rs149180414 0.00024
NM_001374353.1(GLI2):c.2191G>A (p.Gly731Arg) rs146944207 0.00016
NM_001374353.1(GLI2):c.221A>G (p.His74Arg) rs377700501 0.00016
NM_001374353.1(GLI2):c.4094G>A (p.Arg1365His) rs200080112 0.00015
NM_001374353.1(GLI2):c.4392C>G (p.Asp1464Glu) rs201051196 0.00014
NM_001374353.1(GLI2):c.4014A>G (p.Gln1338=) rs374113689 0.00013
NM_001374353.1(GLI2):c.4147G>T (p.Gly1383Cys) rs143914758 0.00013
NM_001374353.1(GLI2):c.4293C>T (p.Tyr1431=) rs374166743 0.00013
NM_001374353.1(GLI2):c.*1660T>A rs931192232 0.00011
NM_001374353.1(GLI2):c.3434A>G (p.Lys1145Arg) rs190017682 0.00011
NM_001374353.1(GLI2):c.220C>T (p.His74Tyr) rs201945889 0.00009
NM_001374353.1(GLI2):c.88A>C (p.Lys30Gln) rs201053024 0.00009
NM_001374353.1(GLI2):c.2666C>T (p.Pro889Leu) rs759061834 0.00008
NM_001374353.1(GLI2):c.1178C>T (p.Thr393Met) rs571690193 0.00007
NM_001374353.1(GLI2):c.4413G>T (p.Leu1471Phe) rs146403211 0.00007
NM_001374353.1(GLI2):c.538A>C (p.Met180Leu) rs565813552 0.00007
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) rs200076785 0.00006
NM_001374353.1(GLI2):c.1990G>A (p.Val664Met) rs551617843 0.00006
NM_001374353.1(GLI2):c.315G>A (p.Pro105=) rs139473153 0.00006
NM_001374353.1(GLI2):c.349G>A (p.Ala117Thr) rs775984106 0.00006
NM_001374353.1(GLI2):c.671C>T (p.Thr224Met) rs370333257 0.00006
NM_001374353.1(GLI2):c.*411C>T rs1473731779 0.00005
NM_001374353.1(GLI2):c.1367G>A (p.Arg456His) rs150170739 0.00005
NM_001374353.1(GLI2):c.2598G>A (p.Pro866=) rs772224406 0.00005
NM_001374353.1(GLI2):c.3371A>T (p.Asn1124Ile) rs761857488 0.00005
NM_001374353.1(GLI2):c.*1819T>C rs754885960 0.00004
NM_001374353.1(GLI2):c.118G>A (p.Ala40Thr) rs776675838 0.00004
NM_001374353.1(GLI2):c.1195G>A (p.Asp399Asn) rs766171973 0.00004
NM_001374353.1(GLI2):c.1317+6C>G rs200971419 0.00004
NM_001374353.1(GLI2):c.2131C>T (p.Arg711Trp) rs1397888063 0.00004
NM_001374353.1(GLI2):c.2267G>A (p.Gly756Asp) rs886054812 0.00004
NM_001374353.1(GLI2):c.2689C>T (p.Arg897Trp) rs763893593 0.00004
NM_001374353.1(GLI2):c.320C>T (p.Pro107Leu) rs374562179 0.00004
NM_001374353.1(GLI2):c.413C>T (p.Thr138Met) rs148317983 0.00004
NM_001374353.1(GLI2):c.4510C>G (p.His1504Asp) rs199843410 0.00004
NM_001374353.1(GLI2):c.4592G>A (p.Arg1531Gln) rs371304728 0.00004
NM_001374353.1(GLI2):c.811G>A (p.Gly271Ser) rs144406619 0.00004
NM_001374353.1(GLI2):c.8C>T (p.Thr3Met) rs770918439 0.00004
NM_001374353.1(GLI2):c.1121G>A (p.Arg374His) rs370220133 0.00003
NM_001374353.1(GLI2):c.2107C>T (p.Arg703Cys) rs773976966 0.00003
NM_001374353.1(GLI2):c.2303A>T (p.Asn768Ile) rs768131638 0.00003
NM_001374353.1(GLI2):c.2486C>T (p.Pro829Leu) rs761090665 0.00003
NM_001374353.1(GLI2):c.2503G>A (p.Ala835Thr) rs751028726 0.00003
NM_001374353.1(GLI2):c.3186C>T (p.Asp1062=) rs769533860 0.00003
NM_001374353.1(GLI2):c.677G>A (p.Arg226His) rs766283583 0.00003
NM_001374353.1(GLI2):c.1309C>G (p.Leu437Val) rs1159158222 0.00002
NM_001374353.1(GLI2):c.176A>G (p.His59Arg) rs777912029 0.00002
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys) rs387907277 0.00002
NM_001374353.1(GLI2):c.1906-4G>A rs373446304 0.00002
NM_001374353.1(GLI2):c.2005A>T (p.Thr669Ser) rs750174908 0.00002
NM_001374353.1(GLI2):c.2075T>C (p.Leu692Pro) rs781438228 0.00002
NM_001374353.1(GLI2):c.2395G>T (p.Ala799Ser) rs767780220 0.00002
NM_001374353.1(GLI2):c.4255G>A (p.Ala1419Thr) rs376388820 0.00002
NM_001374353.1(GLI2):c.451G>A (p.Ala151Thr) rs781771721 0.00002
NM_001374353.1(GLI2):c.4610C>T (p.Pro1537Leu) rs767802807 0.00002
NM_001374353.1(GLI2):c.515C>A (p.Thr172Asn) rs200720726 0.00002
NM_001374353.1(GLI2):c.58C>G (p.Leu20Val) rs754532059 0.00002
NM_001374353.1(GLI2):c.661C>T (p.Pro221Ser) rs771675078 0.00002
NM_001374353.1(GLI2):c.*1735T>C rs376387656 0.00001
NM_001374353.1(GLI2):c.*1888T>G rs747928542 0.00001
NM_001374353.1(GLI2):c.*1947G>A rs938514119 0.00001
NM_001374353.1(GLI2):c.*712G>C rs1471633224 0.00001
NM_001374353.1(GLI2):c.1183-54C>T rs1682377263 0.00001
NM_001374353.1(GLI2):c.1253A>G (p.Tyr418Cys) rs759585885 0.00001
NM_001374353.1(GLI2):c.1486G>T (p.Ala496Ser) rs774591307 0.00001
NM_001374353.1(GLI2):c.152C>G (p.Pro51Arg) rs780172791 0.00001
NM_001374353.1(GLI2):c.1633-7T>A rs532360271 0.00001
NM_001374353.1(GLI2):c.1924G>A (p.Gly642Arg) rs777362312 0.00001
NM_001374353.1(GLI2):c.1942A>G (p.Ser648Gly) rs561810561 0.00001
NM_001374353.1(GLI2):c.2062G>A (p.Asp688Asn) rs751513015 0.00001
NM_001374353.1(GLI2):c.2261T>G (p.Phe754Cys) rs1181629972 0.00001
NM_001374353.1(GLI2):c.244G>A (p.Gly82Ser) rs531807595 0.00001
NM_001374353.1(GLI2):c.257C>T (p.Pro86Leu) rs757479194 0.00001
NM_001374353.1(GLI2):c.2669G>A (p.Gly890Asp) rs1479419735 0.00001
NM_001374353.1(GLI2):c.2690G>A (p.Arg897Gln) rs886054813 0.00001
NM_001374353.1(GLI2):c.2783C>T (p.Thr928Ile) rs1004685361 0.00001
NM_001374353.1(GLI2):c.2831C>T (p.Ala944Val) rs1357813577 0.00001
NM_001374353.1(GLI2):c.2957A>C (p.Asp986Ala) rs930268229 0.00001
NM_001374353.1(GLI2):c.31G>A (p.Glu11Lys) rs574656730 0.00001
NM_001374353.1(GLI2):c.3518G>T (p.Gly1173Val) rs774621554 0.00001
NM_001374353.1(GLI2):c.3647A>G (p.Gln1216Arg) rs377503122 0.00001
NM_001374353.1(GLI2):c.3842G>A (p.Arg1281His) rs370407550 0.00001
NM_001374353.1(GLI2):c.4093C>T (p.Arg1365Cys) rs761959609 0.00001
NM_001374353.1(GLI2):c.4122G>C (p.Gln1374His) rs1489027653 0.00001
NM_001374353.1(GLI2):c.4226C>T (p.Ser1409Leu) rs1215590067 0.00001
NM_001374353.1(GLI2):c.4466A>G (p.Glu1489Gly) rs754008467 0.00001
NM_001374353.1(GLI2):c.686G>A (p.Arg229His) rs755043644 0.00001
NM_001374353.1(GLI2):c.841C>A (p.Leu281Ile) rs1558923649 0.00001
NM_001374353.1(GLI2):c.*1330CA[4] rs1349034466
NM_001374353.1(GLI2):c.*1330_*1331insCTACAC rs886054822
NM_001374353.1(GLI2):c.*1333AC[19] rs59277032
NM_001374353.1(GLI2):c.*1333AC[20] rs59277032
NM_001374353.1(GLI2):c.*1333AC[21] rs59277032
NM_001374353.1(GLI2):c.*1333AC[23] rs59277032
NM_001374353.1(GLI2):c.*1333AC[24] rs59277032
NM_001374353.1(GLI2):c.*1333AC[25] rs59277032
NM_001374353.1(GLI2):c.*1333AC[26] rs59277032
NM_001374353.1(GLI2):c.*1376_*1377insACACCCC rs1553480327
NM_001374353.1(GLI2):c.*1376_*1377insACCC rs1553480327
NM_001374353.1(GLI2):c.*1376_*1377insACCCCC rs1553480327
NM_001374353.1(GLI2):c.*1376_*1379dup rs1553480328
NM_001374353.1(GLI2):c.*1628G>T rs886054827
NM_001374353.1(GLI2):c.*1753C>T rs1683325270
NM_001374353.1(GLI2):c.*1837_*1840dup rs558203417
NM_001374353.1(GLI2):c.*285G>A rs536145925
NM_001374353.1(GLI2):c.*378A>G rs886054820
NM_001374353.1(GLI2):c.*795T>C rs1015813455
NM_001374353.1(GLI2):c.*81_*82del rs886054819
NM_001374353.1(GLI2):c.1022T>G (p.Leu341Arg)
NM_001374353.1(GLI2):c.1079C>T (p.Ser360Leu)
NM_001374353.1(GLI2):c.109G>A (p.Val37Met)
NM_001374353.1(GLI2):c.1136C>A (p.Thr379Asn)
NM_001374353.1(GLI2):c.1177A>G (p.Thr393Ala)
NM_001374353.1(GLI2):c.1183-12C>T
NM_001374353.1(GLI2):c.1262A>G (p.Asn421Ser)
NM_001374353.1(GLI2):c.1263C>G (p.Asn421Lys)
NM_001374353.1(GLI2):c.1300C>G (p.Gln434Glu) rs767205563
NM_001374353.1(GLI2):c.1330G>A (p.Glu444Lys)
NM_001374353.1(GLI2):c.1342G>A (p.Gly448Arg)
NM_001374353.1(GLI2):c.140C>T (p.Ala47Val)
NM_001374353.1(GLI2):c.1433G>A (p.Arg478Gln) rs2105051121
NM_001374353.1(GLI2):c.1447G>A (p.Glu483Lys)
NM_001374353.1(GLI2):c.1466C>T (p.Thr489Met)
NM_001374353.1(GLI2):c.1468-13C>A
NM_001374353.1(GLI2):c.146G>A (p.Gly49Glu) rs1684453085
NM_001374353.1(GLI2):c.1472A>C (p.Glu491Ala)
NM_001374353.1(GLI2):c.1483_1494del (p.Lys495_Ser498del) rs1682772612
NM_001374353.1(GLI2):c.149-14C>G rs1679731984
NM_001374353.1(GLI2):c.1490A>C (p.Tyr497Ser) rs1553477146
NM_001374353.1(GLI2):c.1518C>A (p.His506Gln)
NM_001374353.1(GLI2):c.1537G>C (p.Glu513Gln)
NM_001374353.1(GLI2):c.1571A>T (p.Asn524Ile) rs2105064513
NM_001374353.1(GLI2):c.1589C>T (p.Ala530Val)
NM_001374353.1(GLI2):c.1658G>T (p.Gly553Val)
NM_001374353.1(GLI2):c.1672T>C (p.Tyr558His) rs763503195
NM_001374353.1(GLI2):c.1691T>G (p.Leu564Arg) rs2105070545
NM_001374353.1(GLI2):c.1798G>A (p.Glu600Lys) rs2105071104
NM_001374353.1(GLI2):c.1805G>A (p.Gly602Asp)
NM_001374353.1(GLI2):c.1819G>A (p.Gly607Ser)
NM_001374353.1(GLI2):c.1868G>C (p.Cys623Ser)
NM_001374353.1(GLI2):c.1897A>C (p.Ser633Arg)
NM_001374353.1(GLI2):c.1903G>A (p.Gly635Arg)
NM_001374353.1(GLI2):c.1905+3A>G
NM_001374353.1(GLI2):c.1907T>C (p.Leu636Pro) rs1373160690
NM_001374353.1(GLI2):c.1917C>T (p.Ser639=) rs377642084
NM_001374353.1(GLI2):c.1934C>T (p.Ser645Leu)
NM_001374353.1(GLI2):c.195C>G (p.Asp65Glu)
NM_001374353.1(GLI2):c.198G>A (p.Met66Ile) rs2104869716
NM_001374353.1(GLI2):c.2028C>A (p.Asp676Glu)
NM_001374353.1(GLI2):c.2033C>T (p.Thr678Met)
NM_001374353.1(GLI2):c.2089G>T (p.Ala697Ser)
NM_001374353.1(GLI2):c.2152_2154del (p.Glu718del) rs1682985936
NM_001374353.1(GLI2):c.2161A>C (p.Lys721Gln)
NM_001374353.1(GLI2):c.2162A>G (p.Lys721Arg)
NM_001374353.1(GLI2):c.2177C>T (p.Ser726Phe)
NM_001374353.1(GLI2):c.2210G>A (p.Arg737Gln) rs144782119
NM_001374353.1(GLI2):c.2210G>C (p.Arg737Pro) rs144782119
NM_001374353.1(GLI2):c.2242G>A (p.Gly748Ser)
NM_001374353.1(GLI2):c.2243G>C (p.Gly748Ala)
NM_001374353.1(GLI2):c.2245T>C (p.Ser749Pro)
NM_001374353.1(GLI2):c.2288C>T (p.Ala763Val)
NM_001374353.1(GLI2):c.2291G>A (p.Gly764Glu)
NM_001374353.1(GLI2):c.2440_2442del (p.Ser815del) rs770837314
NM_001374353.1(GLI2):c.2453C>G (p.Ser818Cys)
NM_001374353.1(GLI2):c.248T>C (p.Val83Ala)
NM_001374353.1(GLI2):c.2561A>G (p.Gln854Arg)
NM_001374353.1(GLI2):c.2683A>G (p.Ser895Gly) rs1683106609
NM_001374353.1(GLI2):c.2702C>T (p.Ala901Val)
NM_001374353.1(GLI2):c.2714C>T (p.Ala905Val)
NM_001374353.1(GLI2):c.2715_2735dup (p.Ala912_Gly913insProGluArgThrLeuProAla)
NM_001374353.1(GLI2):c.271G>A (p.Gly91Ser)
NM_001374353.1(GLI2):c.2732C>T (p.Pro911Leu)
NM_001374353.1(GLI2):c.2743C>T (p.Pro915Ser)
NM_001374353.1(GLI2):c.2747G>A (p.Arg916His)
NM_001374353.1(GLI2):c.2789G>A (p.Gly930Asp)
NM_001374353.1(GLI2):c.2797C>G (p.His933Asp)
NM_001374353.1(GLI2):c.2836G>A (p.Gly946Ser) rs2105088610
NM_001374353.1(GLI2):c.285C>G (p.Ile95Met)
NM_001374353.1(GLI2):c.2860G>A (p.Asp954Asn) rs1683119644
NM_001374353.1(GLI2):c.2872C>T (p.Arg958Trp)
NM_001374353.1(GLI2):c.2873G>T (p.Arg958Leu) rs1477746607
NM_001374353.1(GLI2):c.2893C>A (p.Pro965Thr)
NM_001374353.1(GLI2):c.2905C>T (p.Arg969Cys)
NM_001374353.1(GLI2):c.292A>G (p.Ile98Val)
NM_001374353.1(GLI2):c.2933C>G (p.Pro978Arg)
NM_001374353.1(GLI2):c.294C>G (p.Ile98Met)
NM_001374353.1(GLI2):c.2955C>G (p.Ala985=) rs886054814
NM_001374353.1(GLI2):c.2956G>A (p.Asp986Asn)
NM_001374353.1(GLI2):c.3007G>C (p.Ala1003Pro)
NM_001374353.1(GLI2):c.3020A>G (p.Tyr1007Cys)
NM_001374353.1(GLI2):c.304C>T (p.Arg102Trp)
NM_001374353.1(GLI2):c.3172A>G (p.Ser1058Gly)
NM_001374353.1(GLI2):c.317A>G (p.His106Arg)
NM_001374353.1(GLI2):c.3196G>A (p.Gly1066Arg)
NM_001374353.1(GLI2):c.3228C>T (p.Phe1076=) rs886054815
NM_001374353.1(GLI2):c.3230C>T (p.Ser1077Phe)
NM_001374353.1(GLI2):c.3265G>C (p.Gly1089Arg)
NM_001374353.1(GLI2):c.3293C>T (p.Ser1098Phe)
NM_001374353.1(GLI2):c.3297C>G (p.Asn1099Lys) rs368638181
NM_001374353.1(GLI2):c.3350C>T (p.Pro1117Leu)
NM_001374353.1(GLI2):c.3361A>G (p.Asn1121Asp)
NM_001374353.1(GLI2):c.3364A>G (p.Lys1122Glu)
NM_001374353.1(GLI2):c.3409G>T (p.Val1137Leu)
NM_001374353.1(GLI2):c.3416C>T (p.Ala1139Val) rs886054816
NM_001374353.1(GLI2):c.3418C>G (p.Leu1140Val)
NM_001374353.1(GLI2):c.3452A>G (p.Gln1151Arg)
NM_001374353.1(GLI2):c.3459C>G (p.Asn1153Lys)
NM_001374353.1(GLI2):c.3466G>T (p.Val1156Leu)
NM_001374353.1(GLI2):c.3482C>G (p.Pro1161Arg) rs2105092684
NM_001374353.1(GLI2):c.3577G>A (p.Gly1193Arg)
NM_001374353.1(GLI2):c.3583C>T (p.Pro1195Ser)
NM_001374353.1(GLI2):c.3596T>A (p.Ile1199Asn) rs886054817
NM_001374353.1(GLI2):c.3644G>A (p.Ser1215Asn)
NM_001374353.1(GLI2):c.364G>T (p.Val122Leu)
NM_001374353.1(GLI2):c.3665C>T (p.Thr1222Ile)
NM_001374353.1(GLI2):c.3689A>G (p.Tyr1230Cys)
NM_001374353.1(GLI2):c.3696A>C (p.Gln1232His)
NM_001374353.1(GLI2):c.3701A>C (p.His1234Pro)
NM_001374353.1(GLI2):c.3706C>G (p.Gln1236Glu)
NM_001374353.1(GLI2):c.3766A>G (p.Met1256Val)
NM_001374353.1(GLI2):c.3810A>C (p.Glu1270Asp) rs2105094470
NM_001374353.1(GLI2):c.3839A>G (p.Asn1280Ser)
NM_001374353.1(GLI2):c.3886C>A (p.Pro1296Thr) rs767845340
NM_001374353.1(GLI2):c.3887_3888inv (p.Pro1296Leu)
NM_001374353.1(GLI2):c.3901G>A (p.Val1301Ile)
NM_001374353.1(GLI2):c.3905A>G (p.Gln1302Arg)
NM_001374353.1(GLI2):c.3967G>C (p.Val1323Leu)
NM_001374353.1(GLI2):c.4018G>A (p.Gly1340Ser)
NM_001374353.1(GLI2):c.4019G>A (p.Gly1340Asp)
NM_001374353.1(GLI2):c.4028G>C (p.Gly1343Ala)
NM_001374353.1(GLI2):c.4039G>A (p.Ala1347Thr)
NM_001374353.1(GLI2):c.4127T>G (p.Leu1376Arg)
NM_001374353.1(GLI2):c.4157T>C (p.Met1386Thr)
NM_001374353.1(GLI2):c.4184C>T (p.Thr1395Ile)
NM_001374353.1(GLI2):c.4189G>C (p.Glu1397Gln)
NM_001374353.1(GLI2):c.4291T>C (p.Tyr1431His) rs1683228767
NM_001374353.1(GLI2):c.4292A>G (p.Tyr1431Cys)
NM_001374353.1(GLI2):c.4307T>C (p.Met1436Thr) rs886054818
NM_001374353.1(GLI2):c.4325G>A (p.Gly1442Asp) rs1683230678
NM_001374353.1(GLI2):c.4357C>T (p.Arg1453Trp)
NM_001374353.1(GLI2):c.4361C>G (p.Ser1454Cys)
NM_001374353.1(GLI2):c.4434G>C (p.Gln1478His)
NM_001374353.1(GLI2):c.4468G>A (p.Ala1490Thr) rs1187651972
NM_001374353.1(GLI2):c.4476G>T (p.Gln1492His)
NM_001374353.1(GLI2):c.449C>T (p.Pro150Leu) rs2104951410
NM_001374353.1(GLI2):c.4504G>A (p.Gly1502Ser)
NM_001374353.1(GLI2):c.451G>C (p.Ala151Pro) rs781771721
NM_001374353.1(GLI2):c.4526C>T (p.Ser1509Leu)
NM_001374353.1(GLI2):c.4528G>C (p.Gly1510Arg)
NM_001374353.1(GLI2):c.4552C>T (p.His1518Tyr)
NM_001374353.1(GLI2):c.4586C>T (p.Thr1529Ile)
NM_001374353.1(GLI2):c.4621G>A (p.Ala1541Thr)
NM_001374353.1(GLI2):c.493G>T (p.Gly165Cys)
NM_001374353.1(GLI2):c.508G>C (p.Gly170Arg)
NM_001374353.1(GLI2):c.539T>G (p.Met180Arg)
NM_001374353.1(GLI2):c.547G>A (p.Val183Met)
NM_001374353.1(GLI2):c.562G>A (p.Ala188Thr)
NM_001374353.1(GLI2):c.649C>T (p.Arg217Cys)
NM_001374353.1(GLI2):c.713T>C (p.Leu238Pro) rs1558923316
NM_001374353.1(GLI2):c.764C>T (p.Ser255Leu)
NM_001374353.1(GLI2):c.770T>C (p.Val257Ala) rs1573698341
NM_001374353.1(GLI2):c.83C>A (p.Pro28Gln)
NM_001374353.1(GLI2):c.862C>T (p.Pro288Ser)
NM_001374353.1(GLI2):c.908A>C (p.Gln303Pro)
NM_001374353.1(GLI2):c.968T>C (p.Phe323Ser)
NM_001374353.1(GLI2):c.971T>C (p.Leu324Pro)
NM_001374353.1(GLI2):c.985A>G (p.Met329Val)

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