ClinVar Miner

List of variants in gene GLI2 reported as uncertain significance for Inborn genetic diseases

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Gene type:
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Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.985A>G (p.Met329Val) rs377150486 0.00011
NM_001374353.1(GLI2):c.2893C>T (p.Pro965Ser) rs945554487 0.00009
NM_001374353.1(GLI2):c.67G>A (p.Ala23Thr) rs201834541 0.00005
NM_001374353.1(GLI2):c.2267G>A (p.Gly756Asp) rs886054812 0.00004
NM_001374353.1(GLI2):c.3967G>C (p.Val1323Leu) rs759453086 0.00004
NM_001374353.1(GLI2):c.4510C>G (p.His1504Asp) rs199843410 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.1136C>A (p.Thr379Asn) rs751294369 0.00003
NM_001374353.1(GLI2):c.140C>T (p.Ala47Val) rs990168694 0.00003
NM_001374353.1(GLI2):c.1766G>A (p.Arg589His) rs745409561 0.00003
NM_001374353.1(GLI2):c.226G>A (p.Glu76Lys) rs545152026 0.00003
NM_001374353.1(GLI2):c.2303A>T (p.Asn768Ile) rs768131638 0.00003
NM_001374353.1(GLI2):c.2827G>A (p.Glu943Lys) rs1276841941 0.00003
NM_001374353.1(GLI2):c.3029G>A (p.Arg1010Gln) rs531385991 0.00003
NM_001374353.1(GLI2):c.4476G>T (p.Gln1492His) rs758647029 0.00003
NM_001374353.1(GLI2):c.4684A>T (p.Ser1562Cys) rs774448389 0.00003
NM_001374353.1(GLI2):c.1748G>T (p.Arg583Leu) rs762992052 0.00002
NM_001374353.1(GLI2):c.176A>G (p.His59Arg) rs777912029 0.00002
NM_001374353.1(GLI2):c.4028G>C (p.Gly1343Ala) rs777551364 0.00002
NM_001374353.1(GLI2):c.4108C>T (p.Arg1370Cys) rs763628436 0.00002
NM_001374353.1(GLI2):c.566C>T (p.Pro189Leu) rs1350284317 0.00002
NM_001374353.1(GLI2):c.764C>T (p.Ser255Leu) rs767570213 0.00002
NM_001374353.1(GLI2):c.1010C>T (p.Thr337Met) rs1419274436 0.00001
NM_001374353.1(GLI2):c.1072A>C (p.Ser358Arg) rs1382389036 0.00001
NM_001374353.1(GLI2):c.109G>A (p.Val37Met) rs768926635 0.00001
NM_001374353.1(GLI2):c.1187A>C (p.Gln396Pro) rs1007884555 0.00001
NM_001374353.1(GLI2):c.1486G>T (p.Ala496Ser) rs774591307 0.00001
NM_001374353.1(GLI2):c.1592C>T (p.Ser531Leu) rs1418648944 0.00001
NM_001374353.1(GLI2):c.1693C>T (p.Arg565Trp) rs1158908764 0.00001
NM_001374353.1(GLI2):c.1819G>A (p.Gly607Ser) rs754383625 0.00001
NM_001374353.1(GLI2):c.1942A>G (p.Ser648Gly) rs561810561 0.00001
NM_001374353.1(GLI2):c.196A>G (p.Met66Val) rs768282760 0.00001
NM_001374353.1(GLI2):c.2066C>T (p.Thr689Ile) rs754899023 0.00001
NM_001374353.1(GLI2):c.2252T>C (p.Leu751Pro) rs973224338 0.00001
NM_001374353.1(GLI2):c.2278G>A (p.Gly760Ser) rs1293213627 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.2957A>C (p.Asp986Ala) rs930268229 0.00001
NM_001374353.1(GLI2):c.3008C>T (p.Ala1003Val) rs1274644562 0.00001
NM_001374353.1(GLI2):c.314C>T (p.Pro105Leu) rs370693310 0.00001
NM_001374353.1(GLI2):c.3293C>T (p.Ser1098Phe) rs768624852 0.00001
NM_001374353.1(GLI2):c.3769C>T (p.Pro1257Ser) rs768154558 0.00001
NM_001374353.1(GLI2):c.3826A>G (p.Thr1276Ala) rs755264335 0.00001
NM_001374353.1(GLI2):c.3847A>G (p.Arg1283Gly) rs746470573 0.00001
NM_001374353.1(GLI2):c.3851A>T (p.Glu1284Val) rs768405449 0.00001
NM_001374353.1(GLI2):c.4122G>C (p.Gln1374His) rs1489027653 0.00001
NM_001374353.1(GLI2):c.4127T>G (p.Leu1376Arg) rs778605920 0.00001
NM_001374353.1(GLI2):c.4183A>G (p.Thr1395Ala) rs760060026 0.00001
NM_001374353.1(GLI2):c.1117A>C (p.Lys373Gln) rs1682202317
NM_001374353.1(GLI2):c.1183-33G>A rs761748900
NM_001374353.1(GLI2):c.1288G>C (p.Glu430Gln) rs2467712827
NM_001374353.1(GLI2):c.142C>T (p.Gln48Ter) rs755515251
NM_001374353.1(GLI2):c.1466C>T (p.Thr489Met) rs764718032
NM_001374353.1(GLI2):c.1490A>C (p.Tyr497Ser) rs1553477146
NM_001374353.1(GLI2):c.1517A>G (p.His506Arg) rs1573725870
NM_001374353.1(GLI2):c.1562A>C (p.Glu521Ala) rs2467741685
NM_001374353.1(GLI2):c.160C>G (p.Leu54Val) rs781117793
NM_001374353.1(GLI2):c.1772C>A (p.Pro591Gln)
NM_001374353.1(GLI2):c.1975A>T (p.Asn659Tyr) rs2467757356
NM_001374353.1(GLI2):c.2000C>T (p.Pro667Leu)
NM_001374353.1(GLI2):c.2053C>G (p.Pro685Ala) rs370752192
NM_001374353.1(GLI2):c.20C>T (p.Ala7Val)
NM_001374353.1(GLI2):c.2126T>G (p.Met709Arg)
NM_001374353.1(GLI2):c.2137G>A (p.Glu713Lys) rs752860949
NM_001374353.1(GLI2):c.2210G>C (p.Arg737Pro) rs144782119
NM_001374353.1(GLI2):c.2294T>C (p.Leu765Pro)
NM_001374353.1(GLI2):c.2380A>G (p.Ser794Gly) rs2467767428
NM_001374353.1(GLI2):c.2393C>T (p.Ser798Leu) rs1026630572
NM_001374353.1(GLI2):c.2411G>A (p.Arg804His) rs926369054
NM_001374353.1(GLI2):c.2414G>A (p.Arg805His) rs2467767686
NM_001374353.1(GLI2):c.248T>C (p.Val83Ala) rs999987091
NM_001374353.1(GLI2):c.2546C>T (p.Ser849Leu)
NM_001374353.1(GLI2):c.2702C>T (p.Ala901Val) rs1442572039
NM_001374353.1(GLI2):c.2713G>T (p.Ala905Ser)
NM_001374353.1(GLI2):c.2723G>A (p.Arg908His) rs1227169920
NM_001374353.1(GLI2):c.276C>A (p.Ser92Arg) rs1323424391
NM_001374353.1(GLI2):c.283A>G (p.Ile95Val) rs2467613121
NM_001374353.1(GLI2):c.2870G>C (p.Arg957Pro)
NM_001374353.1(GLI2):c.2872C>T (p.Arg958Trp) rs1683120366
NM_001374353.1(GLI2):c.2963G>T (p.Arg988Leu) rs2105089504
NM_001374353.1(GLI2):c.2995G>A (p.Asp999Asn) rs1365347989
NM_001374353.1(GLI2):c.2998G>A (p.Gly1000Ser)
NM_001374353.1(GLI2):c.3028C>T (p.Arg1010Trp) rs1404870952
NM_001374353.1(GLI2):c.3085G>T (p.Gly1029Cys)
NM_001374353.1(GLI2):c.3094C>T (p.Pro1032Ser)
NM_001374353.1(GLI2):c.3148G>C (p.Val1050Leu) rs1252938560
NM_001374353.1(GLI2):c.3217A>C (p.Ser1073Arg) rs2467776170
NM_001374353.1(GLI2):c.3254C>T (p.Pro1085Leu) rs758984235
NM_001374353.1(GLI2):c.3272G>A (p.Arg1091His) rs745631814
NM_001374353.1(GLI2):c.328C>G (p.Pro110Ala) rs143139718
NM_001374353.1(GLI2):c.3304C>T (p.Pro1102Ser)
NM_001374353.1(GLI2):c.3416C>T (p.Ala1139Val) rs886054816
NM_001374353.1(GLI2):c.3418C>G (p.Leu1140Val) rs141988240
NM_001374353.1(GLI2):c.3440C>A (p.Pro1147Gln)
NM_001374353.1(GLI2):c.3478A>G (p.Lys1160Glu)
NM_001374353.1(GLI2):c.3503G>A (p.Gly1168Asp) rs1171685895
NM_001374353.1(GLI2):c.3551C>T (p.Thr1184Met)
NM_001374353.1(GLI2):c.355C>A (p.His119Asn) rs780453822
NM_001374353.1(GLI2):c.3571C>G (p.Arg1191Gly)
NM_001374353.1(GLI2):c.3593G>A (p.Gly1198Asp)
NM_001374353.1(GLI2):c.3613A>T (p.Met1205Leu)
NM_001374353.1(GLI2):c.3679C>T (p.His1227Tyr) rs1683188932
NM_001374353.1(GLI2):c.3703C>T (p.Pro1235Ser) rs1334252087
NM_001374353.1(GLI2):c.3901G>T (p.Val1301Phe)
NM_001374353.1(GLI2):c.4022C>T (p.Pro1341Leu)
NM_001374353.1(GLI2):c.4055T>C (p.Val1352Ala)
NM_001374353.1(GLI2):c.4118A>C (p.Gln1373Pro) rs917282260
NM_001374353.1(GLI2):c.4139G>T (p.Arg1380Met)
NM_001374353.1(GLI2):c.4315C>A (p.Gln1439Lys) rs2467785323
NM_001374353.1(GLI2):c.4370C>T (p.Pro1457Leu)
NM_001374353.1(GLI2):c.4381G>A (p.Ala1461Thr) rs2467785771
NM_001374353.1(GLI2):c.4435G>T (p.Val1479Leu)
NM_001374353.1(GLI2):c.4591C>G (p.Arg1531Gly)
NM_001374353.1(GLI2):c.4636A>G (p.Met1546Val) rs2467787795
NM_001374353.1(GLI2):c.47A>G (p.Lys16Arg) rs2467020490
NM_001374353.1(GLI2):c.548T>C (p.Val183Ala) rs2467629778
NM_001374353.1(GLI2):c.596G>A (p.Gly199Asp) rs1331531799
NM_001374353.1(GLI2):c.605G>C (p.Ser202Thr) rs1681206780
NM_001374353.1(GLI2):c.606C>A (p.Ser202Arg)
NM_001374353.1(GLI2):c.746T>C (p.Ile249Thr)
NM_001374353.1(GLI2):c.770T>C (p.Val257Ala) rs1573698341
NM_001374353.1(GLI2):c.814T>G (p.Ser272Ala) rs2467686863
NM_001374353.1(GLI2):c.817T>G (p.Tyr273Asp) rs1573698593
NM_001374353.1(GLI2):c.911G>A (p.Arg304Lys)
NM_001374353.1(GLI2):c.941C>T (p.Pro314Leu) rs865966949
NM_001374353.1(GLI2):c.94G>T (p.Ala32Ser) rs1013531220
NM_001374353.1(GLI2):c.951C>G (p.Ile317Met) rs755546739
NM_001374353.1(GLI2):c.988G>A (p.Ala330Thr) rs2467693509

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