ClinVar Miner

List of variants in gene GLI3 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 229
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HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.125-263A>G rs846374 0.98657
NM_000168.6(GLI3):c.1356+11G>C rs846273 0.97240
NM_000168.6(GLI3):c.-43+224G>C rs2302024 0.85866
NM_000168.6(GLI3):c.1028+281G>T rs846322 0.64985
NM_000168.6(GLI3):c.826+154T>C rs699493 0.64764
NM_000168.6(GLI3):c.547A>G (p.Thr183Ala) rs846266 0.64495
NM_000168.6(GLI3):c.679+124T>C rs846267 0.57384
NM_000168.6(GLI3):c.474-175T>G rs846265 0.56647
NM_000168.6(GLI3):c.826+255T>C rs699492 0.56647
NM_000168.6(GLI3):c.1647+226C>A rs4724086 0.50278
NM_000168.6(GLI3):c.2431+123G>A rs4724083 0.40087
NC_000007.14:g.41960903C>T rs66495651 0.33442
NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu) rs929387 0.31467
NM_000168.6(GLI3):c.*2757C>T rs3823720 0.25562
NM_000168.6(GLI3):c.125-333G>T rs3801203 0.12761
NM_000168.6(GLI3):c.827-181C>T rs73688623 0.07682
NM_000168.6(GLI3):c.900C>T (p.Ser300=) rs35961850 0.07677
NM_000168.6(GLI3):c.*265A>C rs201493390 0.07495
NM_000168.6(GLI3):c.537C>T (p.His179=) rs3898405 0.07173
NM_000168.6(GLI3):c.4071C>T (p.Tyr1357=) rs34089404 0.07043
NM_000168.6(GLI3):c.1356+64C>A rs78554970 0.06687
NM_000168.6(GLI3):c.2104-209T>G rs77170102 0.06486
NM_000168.6(GLI3):c.1497+256C>T rs10248828 0.06432
NM_000168.6(GLI3):c.827-204C>T rs846321 0.05993
NM_000168.6(GLI3):c.124+61C>A rs2286291 0.04453
NM_000168.6(GLI3):c.*248T>A rs61091998 0.04248
NM_000168.6(GLI3):c.*30G>T rs77886553 0.03497
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) rs35364414 0.03460
NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu) rs35280470 0.03456
NM_000168.6(GLI3):c.-42-11G>C rs80019165 0.03314
NM_000168.6(GLI3):c.1356+228G>A rs115359867 0.02406
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978 0.01858
NM_000168.6(GLI3):c.*249A>T rs6972450 0.01751
NM_000168.5(GLI3):c.*3392G>T rs115519476 0.01463
NM_000168.6(GLI3):c.2431+270A>G rs114355346 0.01379
NM_000168.6(GLI3):c.3774C>G (p.Leu1258=) rs35448119 0.01377
NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile) rs79049330 0.01304
NM_000168.6(GLI3):c.3084C>T (p.Ser1028=) rs79703713 0.01303
NM_000168.6(GLI3):c.1029-7C>T rs78280303 0.01279
NM_000168.6(GLI3):c.*3262A>G rs73096902 0.00963
NM_000168.6(GLI3):c.1647+56G>A rs116695942 0.00897
NM_000168.6(GLI3):c.1029-11C>T rs116195563 0.00867
NM_000168.6(GLI3):c.2431+258T>G rs115984794 0.00858
NM_000168.6(GLI3):c.368-19G>A rs79879393 0.00858
NM_000168.6(GLI3):c.679+212C>T rs77464277 0.00746
NM_000168.6(GLI3):c.679+281A>C rs74938651 0.00736
NM_000168.6(GLI3):c.474-271T>C rs76237568 0.00700
NM_000168.6(GLI3):c.826+194C>T rs11974012 0.00648
NM_000168.6(GLI3):c.*2715G>A rs193192167 0.00534
NM_000168.6(GLI3):c.2802G>A (p.Ala934=) rs61730503 0.00520
NM_000168.6(GLI3):c.2103+177G>A rs150873922 0.00517
NM_000168.6(GLI3):c.2165A>G (p.Asn722Ser) rs146130351 0.00514
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_000168.6(GLI3):c.1243-261T>G rs116428116 0.00497
NM_000168.6(GLI3):c.-42-257G>A rs148096260 0.00452
NM_000168.6(GLI3):c.4510A>C (p.Ile1504Leu) rs145419251 0.00424
NM_000168.6(GLI3):c.2104-50C>T rs115463742 0.00406
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756 0.00320
NM_000168.6(GLI3):c.2103+245A>G rs116427071 0.00319
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_000168.6(GLI3):c.2373G>A (p.Pro791=) rs61754622 0.00267
NM_000168.6(GLI3):c.1357-17C>G rs190600888 0.00256
NM_000168.6(GLI3):c.1812+314C>T rs183049333 0.00245
NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) rs118149040 0.00207
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911 0.00198
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_000168.6(GLI3):c.280C>T (p.Leu94=) rs115137047 0.00193
NM_000168.6(GLI3):c.444C>T (p.Tyr148=) rs142241970 0.00191
NM_000168.6(GLI3):c.2635G>A (p.Ala879Thr) rs137939155 0.00150
NM_000168.6(GLI3):c.1671C>T (p.Tyr557=) rs143948870 0.00123
NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser) rs150907867 0.00104
NM_000168.6(GLI3):c.*9A>G rs187024593 0.00093
NM_000168.6(GLI3):c.501G>A (p.Thr167=) rs149901929 0.00084
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=) rs149860242 0.00076
NM_000168.6(GLI3):c.1647+13G>A rs149955824 0.00066
NM_000168.6(GLI3):c.2006C>T (p.Thr669Ile) rs139108417 0.00061
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu) rs146582871 0.00043
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val) rs140048578 0.00039
NM_000168.6(GLI3):c.3984C>T (p.Leu1328=) rs148940743 0.00038
NM_000168.6(GLI3):c.3015C>T (p.Ala1005=) rs200965852 0.00032
NM_000168.6(GLI3):c.211G>A (p.Val71Ile) rs143843875 0.00031
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457 0.00027
NM_000168.6(GLI3):c.3987C>T (p.Gly1329=) rs145859702 0.00027
NM_000168.6(GLI3):c.124+10A>G rs112576935 0.00025
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572 0.00025
NM_000168.6(GLI3):c.474-4C>T rs74536326 0.00023
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) rs376725882 0.00016
NM_000168.6(GLI3):c.168C>T (p.Asn56=) rs376845825 0.00013
NM_000168.6(GLI3):c.411T>C (p.Ile137=) rs200203051 0.00011
NM_000168.6(GLI3):c.3079C>T (p.Leu1027Phe) rs746534141 0.00009
NM_000168.6(GLI3):c.2735G>A (p.Ser912Asn) rs757735624 0.00007
NM_000168.6(GLI3):c.748C>T (p.Pro250Ser) rs202039538 0.00006
NM_000168.6(GLI3):c.3162C>T (p.Gly1054=) rs554127075 0.00005
NM_000168.6(GLI3):c.1969G>A (p.Gly657Ser) rs377579354 0.00004
NM_000168.6(GLI3):c.2104-8C>T rs769769944 0.00004
NM_000168.6(GLI3):c.2306C>T (p.Pro769Leu) rs139672999 0.00004
NM_000168.6(GLI3):c.563C>A (p.Ser188Tyr) rs369926331 0.00004
NM_000168.6(GLI3):c.1462G>A (p.Ala488Thr) rs756581886 0.00003
NM_000168.6(GLI3):c.2372C>T (p.Pro791Leu) rs201419477 0.00003
NM_000168.6(GLI3):c.245G>A (p.Arg82Lys) rs754143860 0.00003
NM_000168.6(GLI3):c.313C>T (p.Arg105Cys) rs555794809 0.00003
NM_000168.6(GLI3):c.1063G>A (p.Val355Ile) rs186192284 0.00002
NM_000168.6(GLI3):c.1242+16C>T rs754808194 0.00002
NM_000168.6(GLI3):c.1983G>C (p.Gln661His) rs564000094 0.00002
NM_000168.6(GLI3):c.2540G>A (p.Arg847Lys) rs143406263 0.00002
NM_000168.6(GLI3):c.1287G>A (p.Pro429=) rs760816574 0.00001
NM_000168.6(GLI3):c.1525G>A (p.Glu509Lys) rs761808583 0.00001
NM_000168.6(GLI3):c.1945C>T (p.Arg649Trp) rs757597719 0.00001
NM_000168.6(GLI3):c.2447A>C (p.Asn816Thr) rs968591547 0.00001
NM_000168.6(GLI3):c.2585G>A (p.Arg862His) rs1206529384 0.00001
NM_000168.6(GLI3):c.2936_2953dup (p.Ala984_His985insArgSerAspGlyGlyAla) rs1252097775 0.00001
NM_000168.6(GLI3):c.4450G>A (p.Ala1484Thr) rs1423837015 0.00001
NM_000168.6(GLI3):c.680-14_680-13del rs759633765 0.00001
NM_000168.6(GLI3):c.781G>A (p.Ala261Thr) rs139274834 0.00001
NC_000007.13:g.42007664del rs57654200
NM_000168.6(GLI3):c.*2358del rs144064690
NM_000168.6(GLI3):c.*2358dup rs144064690
NM_000168.6(GLI3):c.*265del rs550264781
NM_000168.6(GLI3):c.*265dup rs550264781
NM_000168.6(GLI3):c.*3341dup rs138425063
NM_000168.6(GLI3):c.-42-149del rs11366795
NM_000168.6(GLI3):c.-42-42del rs11266806
NM_000168.6(GLI3):c.-42-55dup rs11266806
NM_000168.6(GLI3):c.1029-22dup rs559579130
NM_000168.6(GLI3):c.1030C>G (p.Pro344Ala) rs779563132
NM_000168.6(GLI3):c.1076T>G (p.Met359Arg) rs1437242698
NM_000168.6(GLI3):c.1084C>G (p.Gln362Glu) rs1789112690
NM_000168.6(GLI3):c.1111G>C (p.Gly371Arg) rs143523044
NM_000168.6(GLI3):c.1135C>T (p.Pro379Ser) rs2128732073
NM_000168.6(GLI3):c.1180C>T (p.Pro394Ser) rs1255889257
NM_000168.6(GLI3):c.1191_1206del (p.Thr398fs) rs1554315071
NM_000168.6(GLI3):c.124+181G>T rs114292995
NM_000168.6(GLI3):c.1357-304_1357-303dup rs113898315
NM_000168.6(GLI3):c.1452G>A (p.Trp484Ter) rs1554314595
NM_000168.6(GLI3):c.1464_1489dup (p.Leu497fs) rs1554314581
NM_000168.6(GLI3):c.148T>C (p.Tyr50His)
NM_000168.6(GLI3):c.1497+5G>A rs2128730749
NM_000168.6(GLI3):c.1509C>T (p.Asn503=) rs34020684
NM_000168.6(GLI3):c.151C>T (p.His51Tyr)
NM_000168.6(GLI3):c.1550G>T (p.Trp517Leu) rs2128712829
NM_000168.6(GLI3):c.1577C>T (p.Pro526Leu)
NM_000168.6(GLI3):c.1578del (p.Phe527fs) rs1064793685
NM_000168.6(GLI3):c.1613G>A (p.Arg538Lys) rs2128712790
NM_000168.6(GLI3):c.1648-220del rs60699625
NM_000168.6(GLI3):c.1648-230dup rs60699625
NM_000168.6(GLI3):c.1697del (p.His566fs) rs886039667
NM_000168.6(GLI3):c.1706C>T (p.Ser569Phe) rs201268608
NM_000168.6(GLI3):c.1778G>A (p.Arg593His)
NM_000168.6(GLI3):c.1786C>T (p.His596Tyr) rs2128712243
NM_000168.6(GLI3):c.1813-11G>A
NM_000168.6(GLI3):c.1813-3C>G rs2128710047
NM_000168.6(GLI3):c.186A>G (p.Pro62=) rs1452738609
NM_000168.6(GLI3):c.1880A>G (p.His627Arg)
NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter) rs781422192
NM_000168.6(GLI3):c.2000G>T (p.Arg667Leu) rs373926115
NM_000168.6(GLI3):c.2071C>T (p.Gln691Ter) rs1554306031
NM_000168.6(GLI3):c.2134T>C (p.Ser712Pro) rs2128707312
NM_000168.6(GLI3):c.2149C>T (p.Gln717Ter)
NM_000168.6(GLI3):c.2163C>T (p.Ser721=)
NM_000168.6(GLI3):c.2257A>G (p.Thr753Ala)
NM_000168.6(GLI3):c.2314A>T (p.Thr772Ser) rs2128706995
NM_000168.6(GLI3):c.2331C>T (p.His777=) rs1057524835
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter) rs121917714
NM_000168.6(GLI3):c.2419C>T (p.Leu807Phe) rs886039381
NM_000168.6(GLI3):c.2431+201dup rs34658310
NM_000168.6(GLI3):c.2587C>T (p.Arg863Cys)
NM_000168.6(GLI3):c.2615C>G (p.Ser872Cys)
NM_000168.6(GLI3):c.2659C>A (p.Gln887Lys)
NM_000168.6(GLI3):c.2740G>C (p.Gly914Arg) rs147004305
NM_000168.6(GLI3):c.2798_2803dup (p.Ala934_Ala935insAspAla)
NM_000168.6(GLI3):c.2826G>C (p.Pro942=) rs34245321
NM_000168.6(GLI3):c.2826G>T (p.Pro942=) rs34245321
NM_000168.6(GLI3):c.2901del (p.Val968fs) rs1064796278
NM_000168.6(GLI3):c.293C>T (p.Ala98Val)
NM_000168.6(GLI3):c.3001G>A (p.Gly1001Ser) rs202182779
NM_000168.6(GLI3):c.3029G>A (p.Arg1010Gln) rs1787165767
NM_000168.6(GLI3):c.3083_3084del (p.Ser1028fs) rs2128705914
NM_000168.6(GLI3):c.3083_3084delinsTT (p.Ser1028Ile) rs886043721
NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys) rs772839719
NM_000168.6(GLI3):c.3140_3141delinsCA (p.Gln1047Pro) rs1064796326
NM_000168.6(GLI3):c.3147C>G (p.Tyr1049Ter) rs779898173
NM_000168.6(GLI3):c.3155C>G (p.Pro1052Arg) rs2128705843
NM_000168.6(GLI3):c.3243C>G (p.Asp1081Glu)
NM_000168.6(GLI3):c.3378del (p.Gly1127fs)
NM_000168.6(GLI3):c.3453C>T (p.Pro1151=) rs749508811
NM_000168.6(GLI3):c.3478A>G (p.Ile1160Val)
NM_000168.6(GLI3):c.3490G>T (p.Glu1164Ter)
NM_000168.6(GLI3):c.3601C>T (p.Pro1201Ser)
NM_000168.6(GLI3):c.367+49TG[17] rs34148485
NM_000168.6(GLI3):c.367+49TG[18] rs34148485
NM_000168.6(GLI3):c.367+49TG[19] rs34148485
NM_000168.6(GLI3):c.367+49TG[20] rs34148485
NM_000168.6(GLI3):c.367+49TG[22] rs34148485
NM_000168.6(GLI3):c.367+49TG[23] rs34148485
NM_000168.6(GLI3):c.367+90GC[4] rs199711555
NM_000168.6(GLI3):c.368-248C>T rs17172004
NM_000168.6(GLI3):c.3727G>C (p.Ala1243Pro) rs1404736446
NM_000168.6(GLI3):c.3739C>T (p.Gln1247Ter)
NM_000168.6(GLI3):c.3741G>T (p.Gln1247His) rs769289785
NM_000168.6(GLI3):c.3771del (p.Leu1258fs) rs1554304508
NM_000168.6(GLI3):c.3965A>C (p.Tyr1322Ser)
NM_000168.6(GLI3):c.4010del (p.Ala1337fs) rs1583728570
NM_000168.6(GLI3):c.4019C>G (p.Pro1340Arg)
NM_000168.6(GLI3):c.4020C>T (p.Pro1340=) rs35139358
NM_000168.6(GLI3):c.4046G>A (p.Ser1349Asn)
NM_000168.6(GLI3):c.4108A>G (p.Met1370Val)
NM_000168.6(GLI3):c.4145G>A (p.Gly1382Asp) rs1064796822
NM_000168.6(GLI3):c.4217C>G (p.Ser1406Ter) rs2128705002
NM_000168.6(GLI3):c.4236_4237del (p.Gln1414fs)
NM_000168.6(GLI3):c.4292C>T (p.Pro1431Leu) rs144128064
NM_000168.6(GLI3):c.4317C>A (p.Tyr1439Ter) rs1562656975
NM_000168.6(GLI3):c.4349T>G (p.Phe1450Cys) rs886042309
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter) rs1057520063
NM_000168.6(GLI3):c.4453A>T (p.Asn1485Tyr) rs2128704858
NM_000168.6(GLI3):c.4484A>G (p.Asp1495Gly)
NM_000168.6(GLI3):c.4606T>A (p.Ser1536Thr) rs75313224
NM_000168.6(GLI3):c.4665dup (p.Asn1556fs) rs1554304247
NM_000168.6(GLI3):c.4676T>C (p.Ile1559Thr) rs2128704689
NM_000168.6(GLI3):c.4682A>G (p.Asp1561Gly) rs2128704685
NM_000168.6(GLI3):c.473+210G>A rs567885367
NM_000168.6(GLI3):c.634T>A (p.Ser212Thr)
NM_000168.6(GLI3):c.679+156del rs144496307
NM_000168.6(GLI3):c.680-10C>T rs1035936832
NM_000168.6(GLI3):c.742C>T (p.Arg248Cys)
NM_000168.6(GLI3):c.7G>T (p.Ala3Ser) rs2128702718
NM_000168.6(GLI3):c.800A>C (p.His267Pro) rs2128741190
NM_000168.6(GLI3):c.815A>G (p.His272Arg)
NM_000168.6(GLI3):c.898_900dup (p.Ser300_Asp301insSer)

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