ClinVar Miner

List of variants in gene GLI3 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_000168.6(GLI3):c.1028+1G>A rs1375768446 0.00001
GLI3, CODON 764, FS
GRCh37/hg19 7p14.1(chr7:41986326-42216822)
GRCh37/hg19 7p14.1(chr7:42034018-42195168)x1
GRCh37/hg19 7p14.1(chr7:42115857-42116915)
NC_000007.13:g.(?_42000470)_(42005117_?)del
NC_000007.13:g.(?_42088070)_(42088315_?)del
NC_000007.13:g.(?_42116331)_(42188087_?)del
NC_000007.13:g.(?_42187805)_(42262872_?)del
NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314
NM_000168.6(GLI3):c.1002T>A (p.Tyr334Ter) rs760303531
NM_000168.6(GLI3):c.1018del (p.Ser340fs) rs1583500982
NM_000168.6(GLI3):c.1033_1048del (p.Ala345fs) rs2128732140
NM_000168.6(GLI3):c.1096C>T (p.Arg366Ter) rs1583805203
NM_000168.6(GLI3):c.1133dup (p.Pro379fs) rs2128732074
NM_000168.6(GLI3):c.1191_1206del (p.Thr398fs) rs1554315071
NM_000168.6(GLI3):c.1433_1434del (p.Ile477_Tyr478insTer) rs1583801167
NM_000168.6(GLI3):c.1451G>A (p.Trp484Ter) rs1562690271
NM_000168.6(GLI3):c.1452G>A (p.Trp484Ter) rs1554314595
NM_000168.6(GLI3):c.1462_1497+2dup rs1789003501
NM_000168.6(GLI3):c.1464_1489dup (p.Leu497fs) rs1554314581
NM_000168.6(GLI3):c.1486C>T (p.Gln496Ter) rs121917715
NM_000168.6(GLI3):c.1497+1G>A rs1399654830
NM_000168.6(GLI3):c.1555_1567del (p.Asp519fs)
NM_000168.6(GLI3):c.1578del (p.Phe527fs) rs1064793685
NM_000168.6(GLI3):c.1616_1617del (p.Arg539fs) rs398122899
NM_000168.6(GLI3):c.1622C>T (p.Thr541Met) rs1562667078
NM_000168.6(GLI3):c.1627G>T (p.Glu543Ter) rs121917711
NM_000168.6(GLI3):c.1648delT (p.Phe550fs)
NM_000168.6(GLI3):c.1673C>A (p.Ser558Ter) rs1356013382
NM_000168.6(GLI3):c.1697del (p.His566fs) rs886039667
NM_000168.6(GLI3):c.1778del (p.Arg593fs) rs1583747773
NM_000168.6(GLI3):c.1793dup (p.Asn598fs) rs2128712235
NM_000168.6(GLI3):c.1862C>T (p.Pro621Leu) rs1787394130
NM_000168.6(GLI3):c.1873C>T (p.Arg625Trp) rs121917712
NM_000168.6(GLI3):c.1874G>A (p.Arg625Gln) rs1554306094
NM_000168.6(GLI3):c.1878del (p.Lys626fs) rs1554306093
NM_000168.6(GLI3):c.1880_1881del (p.His627fs) rs2128710014
NM_000168.6(GLI3):c.1927C>T (p.Arg643Ter) rs121917709
NM_000168.6(GLI3):c.1937_1949dup (p.Pro652fs)
NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter) rs781422192
NM_000168.6(GLI3):c.2012del (p.Gly671fs) rs116840743
NM_000168.6(GLI3):c.2023del (p.Glu675fs) rs116840744
NM_000168.6(GLI3):c.2059del (p.Glu687fs) rs2128709905
NM_000168.6(GLI3):c.2071C>T (p.Gln691Ter) rs1554306031
NM_000168.6(GLI3):c.2090del (p.Ala697fs) rs2128709888
NM_000168.6(GLI3):c.2103+2T>A rs2128709879
NM_000168.6(GLI3):c.2146del (p.Gln716fs)
NM_000168.6(GLI3):c.2149C>T (p.Gln717Ter)
NM_000168.6(GLI3):c.2188_2206del (p.Leu730fs) rs116840754
NM_000168.6(GLI3):c.2252del (p.Asp751fs) rs1057518698
NM_000168.6(GLI3):c.2372del (p.Pro791fs) rs1583734240
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter) rs121917714
NM_000168.6(GLI3):c.2432-1G>A rs2128706417
NM_000168.6(GLI3):c.245_299del (p.Arg82fs)
NM_000168.6(GLI3):c.2594C>G (p.Ser865Ter) rs2128706319
NM_000168.6(GLI3):c.2598del (p.Ile867fs) rs2128706315
NM_000168.6(GLI3):c.2623del (p.Arg875fs)
NM_000168.6(GLI3):c.2632del (p.Glu878fs)
NM_000168.6(GLI3):c.2647G>T (p.Glu883Ter) rs1787185991
NM_000168.6(GLI3):c.2685C>G (p.Tyr895Ter) rs772948115
NM_000168.6(GLI3):c.2709_2763del (p.Arg905fs) rs1787181000
NM_000168.6(GLI3):c.2720del (p.Ser907fs) rs1787182897
NM_000168.6(GLI3):c.2773C>T (p.Gln925Ter) rs1787180396
NM_000168.6(GLI3):c.2800G>C (p.Ala934Pro) rs28933372
NM_000168.6(GLI3):c.2961C>G (p.Tyr987Ter)
NM_000168.6(GLI3):c.3147C>A (p.Tyr1049Ter)
NM_000168.6(GLI3):c.3147C>G (p.Tyr1049Ter) rs779898173
NM_000168.6(GLI3):c.3224del (p.Leu1075fs)
NM_000168.6(GLI3):c.3324C>A (p.Tyr1108Ter) rs116840766
NM_000168.6(GLI3):c.3324C>G (p.Tyr1108Ter) rs116840766
NM_000168.6(GLI3):c.3325G>T (p.Glu1109Ter) rs758667297
NM_000168.6(GLI3):c.3365_3366del (p.Val1122fs) rs2128705693
NM_000168.6(GLI3):c.3378del (p.Gly1127fs)
NM_000168.6(GLI3):c.3386_3387del (p.Asp1128_Phe1129insTer) rs116840767
NM_000168.6(GLI3):c.3414del (p.His1138fs) rs1787147868
NM_000168.6(GLI3):c.3437_3453del (p.Leu1146fs) rs2128705618
NM_000168.6(GLI3):c.3439G>T (p.Glu1147Ter) rs116840768
NM_000168.6(GLI3):c.3442C>T (p.Gln1148Ter)
NM_000168.6(GLI3):c.3454del (p.Glu1152fs) rs1787146494
NM_000168.6(GLI3):c.3481C>T (p.Gln1161Ter) rs116840770
NM_000168.6(GLI3):c.3490G>T (p.Glu1164Ter)
NM_000168.6(GLI3):c.3635del (p.Gly1212fs) rs1060499558
NM_000168.6(GLI3):c.3646dup (p.Leu1216fs) rs1583729562
NM_000168.6(GLI3):c.3647_3665del (p.Leu1216fs)
NM_000168.6(GLI3):c.3667_3670delinsATCAA (p.Tyr1223fs) rs2128705420
NM_000168.6(GLI3):c.366C>A (p.Tyr122Ter) rs1366557334
NM_000168.6(GLI3):c.368-459_473+494del
NM_000168.6(GLI3):c.3707del (p.Gly1236fs) rs1583729398
NM_000168.6(GLI3):c.3762T>G (p.Tyr1254Ter) rs148043302
NM_000168.6(GLI3):c.3784_3787dup (p.Val1263fs) rs1787131313
NM_000168.6(GLI3):c.3874del (p.Gln1292fs) rs1787127981
NM_000168.6(GLI3):c.3904_3912delinsT (p.Asn1302fs) rs1562657560
NM_000168.6(GLI3):c.3956dup (p.Gln1320fs) rs2128705204
NM_000168.6(GLI3):c.4010del (p.Ala1337fs) rs1583728570
NM_000168.6(GLI3):c.4017_4018insG (p.Pro1340fs)
NM_000168.6(GLI3):c.4020del (p.Gly1341fs)
NM_000168.6(GLI3):c.4081G>T (p.Glu1361Ter)
NM_000168.6(GLI3):c.4172del (p.Gly1391fs) rs2128705042
NM_000168.6(GLI3):c.4202del (p.Ser1401fs) rs1583728165
NM_000168.6(GLI3):c.4236_4237del (p.Gln1414fs)
NM_000168.6(GLI3):c.4283dup (p.Pro1429fs) rs2128704974
NM_000168.6(GLI3):c.4315del (p.Tyr1439fs)
NM_000168.6(GLI3):c.4316_4724del (p.Tyr1439fs) rs1787098071
NM_000168.6(GLI3):c.4322_4326del (p.Gly1441fs)
NM_000168.6(GLI3):c.4354C>T (p.Gln1452Ter)
NM_000168.6(GLI3):c.438C>G (p.Tyr146Ter) rs151222023
NM_000168.6(GLI3):c.4395del (p.Ser1466fs) rs1554304380
NM_000168.6(GLI3):c.4413del (p.Thr1472fs) rs2128704887
NM_000168.6(GLI3):c.4430_4439del (p.Ser1477fs) rs1787109472
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter) rs1057520063
NM_000168.6(GLI3):c.4498G>T (p.Glu1500Ter) rs1562656759
NM_000168.6(GLI3):c.4507C>T (p.Gln1503Ter) rs2128704828
NM_000168.6(GLI3):c.4542_4545del (p.His1515fs) rs2128704804
NM_000168.6(GLI3):c.45del (p.Val16fs)
NM_000168.6(GLI3):c.4665dup (p.Asn1556fs) rs1554304247
NM_000168.6(GLI3):c.473+1G>A rs2128751733
NM_000168.6(GLI3):c.473+5G>A rs1784885465
NM_000168.6(GLI3):c.533dup (p.His179fs)
NM_000168.6(GLI3):c.548del (p.Thr183fs)
NM_000168.6(GLI3):c.558del (p.Glu187fs)
NM_000168.6(GLI3):c.602_675del (p.Met201fs) rs2128742642
NM_000168.6(GLI3):c.650C>G (p.Ser217Ter) rs2128742651
NM_000168.6(GLI3):c.750del (p.Tyr251fs) rs1554317931
NM_000168.6(GLI3):c.753T>G (p.Tyr251Ter) rs1583505882
NM_000168.6(GLI3):c.836dup (p.Ser280fs)
NM_000168.6(GLI3):c.868C>T (p.Arg290Ter) rs121917713
NM_000168.6(GLI3):c.877_881del (p.Thr293fs) rs1784103216
NM_000168.6(GLI3):c.885del (p.Ile296fs) rs1784103136
NM_000168.6(GLI3):c.91G>T (p.Glu31Ter) rs1788520333

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