ClinVar Miner

List of variants in gene GLI3 studied for Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome

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Total variants: 74
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HGVS dbSNP
NM_000168.6(GLI3):c.1024A>G (p.Ile342Val)
NM_000168.6(GLI3):c.1028+1G>A rs1375768446
NM_000168.6(GLI3):c.1029-7C>T rs78280303
NM_000168.6(GLI3):c.1096C>T (p.Arg366Ter)
NM_000168.6(GLI3):c.1177A>G (p.Ile393Val) rs1380213537
NM_000168.6(GLI3):c.1184G>A (p.Gly395Glu) rs1345463284
NM_000168.6(GLI3):c.1242+6del rs772496012
NM_000168.6(GLI3):c.1346G>A (p.Arg449Gln)
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756
NM_000168.6(GLI3):c.1433_1434del (p.Ile477_Tyr478insTer)
NM_000168.6(GLI3):c.1451G>A (p.Trp484Ter) rs1562690271
NM_000168.6(GLI3):c.1474G>A (p.Asp492Asn) rs886320788
NM_000168.6(GLI3):c.1509C>T (p.Asn503=) rs34020684
NM_000168.6(GLI3):c.1671C>T (p.Tyr557=) rs143948870
NM_000168.6(GLI3):c.1778del (p.Arg593fs)
NM_000168.6(GLI3):c.1874G>A (p.Arg625Gln) rs1554306094
NM_000168.6(GLI3):c.1878del (p.Lys626fs) rs1554306093
NM_000168.6(GLI3):c.1919A>G (p.Lys640Arg)
NM_000168.6(GLI3):c.1930G>A (p.Gly644Arg)
NM_000168.6(GLI3):c.1959G>A (p.Pro653=) rs148226583
NM_000168.6(GLI3):c.1992G>A (p.Ser664=)
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_000168.6(GLI3):c.211G>A (p.Val71Ile) rs143843875
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val) rs140048578
NM_000168.6(GLI3):c.2306C>T (p.Pro769Leu) rs139672999
NM_000168.6(GLI3):c.2373G>A (p.Pro791=) rs61754622
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373
NM_000168.6(GLI3):c.2635G>A (p.Ala879Thr) rs137939155
NM_000168.6(GLI3):c.272A>G (p.His91Arg)
NM_000168.6(GLI3):c.280C>T (p.Leu94=) rs115137047
NM_000168.6(GLI3):c.2826G>C (p.Pro942=) rs34245321
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978
NM_000168.6(GLI3):c.2856C>T (p.Ser952=) rs1214730213
NM_000168.6(GLI3):c.3079C>T (p.Leu1027Phe) rs746534141
NM_000168.6(GLI3):c.3083_3084delinsTT (p.Ser1028Ile) rs886043721
NM_000168.6(GLI3):c.3115G>A (p.Ala1039Thr) rs770430876
NM_000168.6(GLI3):c.3122A>G (p.Lys1041Arg)
NM_000168.6(GLI3):c.3324C>A (p.Tyr1108Ter) rs116840766
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902
NM_000168.6(GLI3):c.3481C>T (p.Gln1161Ter) rs116840770
NM_000168.6(GLI3):c.3509C>G (p.Ala1170Gly)
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572
NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) rs118149040
NM_000168.6(GLI3):c.3669C>T (p.Tyr1223=) rs773687251
NM_000168.6(GLI3):c.3774C>G (p.Leu1258=) rs35448119
NM_000168.6(GLI3):c.3790G>A (p.Ala1264Thr)
NM_000168.6(GLI3):c.3804C>T (p.Leu1268=) rs373193430
NM_000168.6(GLI3):c.3823G>A (p.Gly1275Arg) rs756156901
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu) rs146582871
NM_000168.6(GLI3):c.3904_3912delinsT (p.Asn1302fs) rs1562657560
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457
NM_000168.6(GLI3):c.3984C>T (p.Leu1328=) rs148940743
NM_000168.6(GLI3):c.3987C>T (p.Gly1329=) rs145859702
NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu) rs35280470
NM_000168.6(GLI3):c.4020C>T (p.Pro1340=) rs35139358
NM_000168.6(GLI3):c.4395del (p.Ser1466fs) rs1554304380
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter) rs1057520063
NM_000168.6(GLI3):c.4498G>T (p.Glu1500Ter) rs1562656759
NM_000168.6(GLI3):c.4510A>C (p.Ile1504Leu) rs145419251
NM_000168.6(GLI3):c.4564G>T (p.Ala1522Ser) rs758379697
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) rs35364414
NM_000168.6(GLI3):c.4638A>G (p.Pro1546=) rs1233172983
NM_000168.6(GLI3):c.4649T>C (p.Leu1550Pro)
NM_000168.6(GLI3):c.474-4C>T rs74536326
NM_000168.6(GLI3):c.4740A>G (p.Gln1580=) rs375653915
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln)
NM_000168.6(GLI3):c.633A>G (p.Pro211=) rs769152784
NM_000168.6(GLI3):c.659G>A (p.Arg220His)
NM_000168.6(GLI3):c.753T>G (p.Tyr251Ter)
NM_000168.6(GLI3):c.781G>A (p.Ala261Thr)
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911
NM_000168.6(GLI3):c.847A>T (p.Arg283Trp) rs746870989
NM_000168.6(GLI3):c.868C>T (p.Arg290Ter) rs121917713

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