ClinVar Miner

List of variants in gene GLI3 reported as benign for Greig cephalopolysyndactyly syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 187
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HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.1356+11G>C rs846273 0.97240
NM_000168.6(GLI3):c.547A>G (p.Thr183Ala) rs846266 0.64495
NM_000168.6(GLI3):c.*428C>T rs2051935 0.35079
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.*741A>G rs114615136 0.08538
NM_000168.6(GLI3):c.900C>T (p.Ser300=) rs35961850 0.07677
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.*1296T>C rs77126593 0.04211
NM_000168.6(GLI3):c.*726A>G rs118157739 0.03505
NM_000168.6(GLI3):c.*30G>T rs77886553 0.03497
NM_000168.6(GLI3):c.*655A>G rs77197280 0.03496
NM_000168.6(GLI3):c.*136T>A rs78794712 0.03493
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) rs35364414 0.03460
NM_000168.6(GLI3):c.*1087A>T rs76023240 0.03456
NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu) rs35280470 0.03456
NM_000168.6(GLI3):c.*847C>A rs116986447 0.03453
NM_000168.6(GLI3):c.-42-11G>C rs80019165 0.03314
NM_000168.6(GLI3):c.-94C>G rs112754065 0.02747
NM_000168.6(GLI3):c.*249A>T rs6972450 0.02026
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978 0.01858
NM_000168.6(GLI3):c.*2019C>T rs73318085 0.01690
NM_000168.5(GLI3):c.*3392G>T rs115519476 0.01463
NM_000168.6(GLI3):c.3774C>G (p.Leu1258=) rs35448119 0.01377
NM_000168.6(GLI3):c.*1297G>A rs116029585 0.01373
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.1029-11C>T rs116195563 0.00867
NM_000168.6(GLI3):c.368-19G>A rs79879393 0.00858
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.2165A>G (p.Asn722Ser) rs146130351 0.00514
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_000168.6(GLI3):c.*2117A>G rs185099021 0.00491
NM_000168.6(GLI3):c.4510A>C (p.Ile1504Leu) rs145419251 0.00424
NM_000168.6(GLI3):c.*911A>G rs187664615 0.00395
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756 0.00320
NM_000168.6(GLI3):c.*1080G>A rs58924064 0.00285
NM_000168.6(GLI3):c.*603A>G rs182121145 0.00276
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.1028+15G>A rs116842918 0.00250
NM_000168.6(GLI3):c.*835G>A rs73688609 0.00225
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.*1691C>T rs181261768 0.00174
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.*1464A>G rs566417596 0.00119
NM_000168.6(GLI3):c.1813-15T>C rs201019815 0.00118
NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser) rs150907867 0.00104
NM_000168.6(GLI3):c.*943G>A rs139782938 0.00092
NM_000168.6(GLI3):c.501G>A (p.Thr167=) rs149901929 0.00084
NM_000168.6(GLI3):c.1386G>A (p.Lys462=) rs150161845 0.00080
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.*2357T>A rs562705224 0.00055
NM_000168.6(GLI3):c.1959G>A (p.Pro653=) rs148226583 0.00046
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val) rs140048578 0.00039
NM_000168.6(GLI3):c.*1623A>G rs183853326 0.00038
NM_000168.6(GLI3):c.3984C>T (p.Leu1328=) rs148940743 0.00038
NM_000168.6(GLI3):c.3889C>T (p.Leu1297=) rs145618226 0.00037
NM_000168.6(GLI3):c.3015C>T (p.Ala1005=) rs200965852 0.00032
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457 0.00027
NM_000168.6(GLI3):c.1242+8G>A rs75925934 0.00026
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572 0.00025
NM_000168.6(GLI3):c.*332T>C rs190531579 0.00023
NM_000168.6(GLI3):c.474-4C>T rs74536326 0.00023
NM_000168.6(GLI3):c.3117G>A (p.Ala1039=) rs75796620 0.00019
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) rs376725882 0.00016
NM_000168.6(GLI3):c.3509C>G (p.Ala1170Gly) rs143942705 0.00014
NM_000168.6(GLI3):c.168C>T (p.Asn56=) rs376845825 0.00013
NM_000168.6(GLI3):c.*1411G>A rs148318176 0.00012
NM_000168.6(GLI3):c.*11A>G rs139896177 0.00011
NM_000168.6(GLI3):c.288C>T (p.His96=) rs200905584 0.00009
NM_000168.6(GLI3):c.3893C>T (p.Pro1298Leu) rs182571462 0.00009
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln) rs140772904 0.00009
NM_000168.6(GLI3):c.363C>T (p.His121=) rs150295615 0.00008
NM_000168.6(GLI3):c.4524C>T (p.Ala1508=) rs201112421 0.00007
NM_000168.6(GLI3):c.1800G>A (p.Thr600=) rs138445547 0.00006
NM_000168.6(GLI3):c.1992G>A (p.Ser664=) rs770030848 0.00006
NM_000168.6(GLI3):c.3894G>A (p.Pro1298=) rs530418832 0.00006
NM_000168.6(GLI3):c.748C>T (p.Pro250Ser) rs202039538 0.00006
NM_000168.6(GLI3):c.1365C>T (p.Pro455=) rs544431683 0.00005
NM_000168.6(GLI3):c.1221C>T (p.Ser407=) rs369180011 0.00004
NM_000168.6(GLI3):c.1969G>A (p.Gly657Ser) rs377579354 0.00004
NM_000168.6(GLI3):c.2306C>T (p.Pro769Leu) rs139672999 0.00004
NM_000168.6(GLI3):c.3611C>G (p.Pro1204Arg) rs543636524 0.00004
NM_000168.6(GLI3):c.1462G>A (p.Ala488Thr) rs756581886 0.00003
NM_000168.6(GLI3):c.1485G>A (p.Glu495=) rs149248727 0.00003
NM_000168.6(GLI3):c.294G>A (p.Ala98=) rs758453658 0.00003
NM_000168.6(GLI3):c.2960A>G (p.Tyr987Cys) rs777313061 0.00003
NM_000168.6(GLI3):c.3149C>T (p.Thr1050Met) rs146556791 0.00003
NM_000168.6(GLI3):c.368-7T>G rs74376818 0.00003
NM_000168.6(GLI3):c.4180C>T (p.Arg1394Cys) rs577664817 0.00003
NM_000168.6(GLI3):c.783C>T (p.Ala261=) rs748769754 0.00003
NM_000168.6(GLI3):c.789G>A (p.Thr263=) rs199918341 0.00003
NM_000168.6(GLI3):c.3631G>A (p.Gly1211Arg) rs757059523 0.00002
NM_000168.6(GLI3):c.935C>T (p.Thr312Met) rs772929930 0.00002
NM_000168.6(GLI3):c.*28C>T rs761585918 0.00001
NM_000168.6(GLI3):c.1159T>C (p.Phe387Leu) rs370794111 0.00001
NM_000168.6(GLI3):c.1184G>A (p.Gly395Glu) rs1345463284 0.00001
NM_000168.6(GLI3):c.1464G>A (p.Ala488=) rs777294193 0.00001
NM_000168.6(GLI3):c.2432-16C>T rs761302001 0.00001
NM_000168.6(GLI3):c.3261C>T (p.Asn1087=) rs370714837 0.00001
NM_000168.6(GLI3):c.3756G>A (p.Pro1252=) rs758155716 0.00001
NM_000168.6(GLI3):c.4356G>A (p.Gln1452=) rs377535957 0.00001
NM_000168.6(GLI3):c.4636C>T (p.Pro1546Ser) rs1173657852 0.00001
NM_000168.6(GLI3):c.825T>C (p.Asp275=) rs201269781 0.00001
NM_000168.6(GLI3):c.99C>T (p.Ala33=) rs201109218 0.00001
NM_000168.6(GLI3):c.*2050T>G rs573860484
NM_000168.6(GLI3):c.*265dup rs550264781
NM_000168.6(GLI3):c.*3004G>A rs3735361
NM_000168.6(GLI3):c.*3238C>T rs372628047
NM_000168.6(GLI3):c.*3341dup rs138425063
NM_000168.6(GLI3):c.-68G>A rs113629469
NM_000168.6(GLI3):c.1029-22dup rs559579130
NM_000168.6(GLI3):c.1207G>A (p.Val403Ile) rs201070431
NM_000168.6(GLI3):c.1254G>A (p.Thr418=)
NM_000168.6(GLI3):c.1317C>T (p.Pro439=)
NM_000168.6(GLI3):c.1346G>C (p.Arg449Pro) rs745809543
NM_000168.6(GLI3):c.1356+10C>A rs765591867
NM_000168.6(GLI3):c.1461C>T (p.Cys487=)
NM_000168.6(GLI3):c.1471T>C (p.Phe491Leu)
NM_000168.6(GLI3):c.1497C>G (p.His499Gln) rs539144173
NM_000168.6(GLI3):c.1497C>T (p.His499=) rs539144173
NM_000168.6(GLI3):c.1509C>T (p.Asn503=) rs34020684
NM_000168.6(GLI3):c.1530G>A (p.Lys510=)
NM_000168.6(GLI3):c.1539C>T (p.Phe513=)
NM_000168.6(GLI3):c.1623G>A (p.Thr541=)
NM_000168.6(GLI3):c.1626C>T (p.Gly542=)
NM_000168.6(GLI3):c.1629G>A (p.Glu543=)
NM_000168.6(GLI3):c.1647+16G>C
NM_000168.6(GLI3):c.1674G>A (p.Ser558=)
NM_000168.6(GLI3):c.1818A>G (p.Pro606=)
NM_000168.6(GLI3):c.186A>G (p.Pro62=) rs1452738609
NM_000168.6(GLI3):c.1902A>T (p.Pro634=)
NM_000168.6(GLI3):c.1911T>C (p.His637=) rs886038265
NM_000168.6(GLI3):c.2003C>T (p.Pro668Leu)
NM_000168.6(GLI3):c.2056C>T (p.Arg686Trp)
NM_000168.6(GLI3):c.2082C>T (p.Thr694=)
NM_000168.6(GLI3):c.2083G>A (p.Val695Ile) rs199606102
NM_000168.6(GLI3):c.2163C>T (p.Ser721=)
NM_000168.6(GLI3):c.2308G>T (p.Ala770Ser) rs1355649064
NM_000168.6(GLI3):c.2331C>T (p.His777=) rs1057524835
NM_000168.6(GLI3):c.2407G>C (p.Ala803Pro)
NM_000168.6(GLI3):c.2550C>T (p.Ser850=)
NM_000168.6(GLI3):c.2772C>G (p.Ala924=)
NM_000168.6(GLI3):c.2784C>T (p.Arg928=)
NM_000168.6(GLI3):c.2803G>A (p.Ala935Thr)
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.2961C>T (p.Tyr987=)
NM_000168.6(GLI3):c.2970C>T (p.Arg990=)
NM_000168.6(GLI3):c.2974C>G (p.Leu992Val)
NM_000168.6(GLI3):c.2993C>G (p.Pro998Arg)
NM_000168.6(GLI3):c.3000C>T (p.His1000=)
NM_000168.6(GLI3):c.3001G>A (p.Gly1001Ser) rs202182779
NM_000168.6(GLI3):c.3083_3084delinsTT (p.Ser1028Ile) rs886043721
NM_000168.6(GLI3):c.3102G>T (p.Ala1034=)
NM_000168.6(GLI3):c.3109A>G (p.Thr1037Ala)
NM_000168.6(GLI3):c.3114C>T (p.Ser1038=)
NM_000168.6(GLI3):c.3318A>C (p.Ala1106=)
NM_000168.6(GLI3):c.3372C>T (p.His1124=) rs542238121
NM_000168.6(GLI3):c.3396C>T (p.Pro1132=)
NM_000168.6(GLI3):c.3411C>A (p.Ser1137Arg)
NM_000168.6(GLI3):c.3514C>T (p.Leu1172=)
NM_000168.6(GLI3):c.3539G>C (p.Gly1180Ala)
NM_000168.6(GLI3):c.3611C>T (p.Pro1204Leu)
NM_000168.6(GLI3):c.3622G>T (p.Gly1208Trp) rs369440387
NM_000168.6(GLI3):c.367+49TG[20] rs34148485
NM_000168.6(GLI3):c.3765G>A (p.Gly1255=)
NM_000168.6(GLI3):c.3957A>G (p.Gly1319=)
NM_000168.6(GLI3):c.4020C>T (p.Pro1340=) rs35139358
NM_000168.6(GLI3):c.4220G>A (p.Gly1407Glu)
NM_000168.6(GLI3):c.4392C>A (p.Asp1464Glu)
NM_000168.6(GLI3):c.4710G>A (p.Ala1570=)
NM_000168.6(GLI3):c.538C>T (p.Arg180Trp)
NM_000168.6(GLI3):c.618C>T (p.Ser206=)
NM_000168.6(GLI3):c.827-19dup rs200073401

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