ClinVar Miner

List of variants in gene GLI3 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 379
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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.*265A>C rs201493390 0.08079
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.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.*249A>T rs6972450 0.02026
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978 0.01858
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.*3262A>G rs73096902 0.00963
NM_000168.6(GLI3):c.1647+56G>A rs116695942 0.00897
NM_000168.6(GLI3):c.2431+258T>G rs115984794 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.444C>T (p.Tyr148=) rs142241970 0.00191
NM_000168.6(GLI3):c.*2517G>A rs568690074 0.00153
NM_000168.6(GLI3):c.2635G>A (p.Ala879Thr) rs137939155 0.00150
NM_000168.6(GLI3):c.*2666G>A rs117987369 0.00142
NM_000168.6(GLI3):c.1671C>T (p.Tyr557=) rs143948870 0.00123
NM_000168.6(GLI3):c.1813-47G>A rs199956247 0.00114
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.2006C>T (p.Thr669Ile) rs139108417 0.00061
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.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.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.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.3762T>C (p.Tyr1254=) rs148043302 0.00019
NM_000168.6(GLI3):c.565C>T (p.Pro189Ser) rs201940674 0.00018
NM_000168.6(GLI3):c.567C>T (p.Pro189=) rs371984494 0.00018
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) rs376725882 0.00016
NM_000168.6(GLI3):c.1222G>A (p.Gly408Ser) rs200411081 0.00014
NM_000168.6(GLI3):c.168C>T (p.Asn56=) rs376845825 0.00013
NM_000168.6(GLI3):c.2200G>A (p.Asp734Asn) rs140479817 0.00010
NM_000168.6(GLI3):c.3903A>G (p.Pro1301=) rs758771584 0.00010
NM_000168.6(GLI3):c.288C>T (p.His96=) rs200905584 0.00009
NM_000168.6(GLI3):c.3079C>T (p.Leu1027Phe) rs746534141 0.00009
NM_000168.6(GLI3):c.1182A>G (p.Pro394=) rs748606221 0.00008
NM_000168.6(GLI3):c.363C>T (p.His121=) rs150295615 0.00008
NM_000168.6(GLI3):c.4382C>T (p.Ser1461Phe) rs149543947 0.00008
NM_000168.6(GLI3):c.4649T>C (p.Leu1550Pro) rs756335435 0.00008
NM_000168.6(GLI3):c.2735G>A (p.Ser912Asn) rs757735624 0.00007
NM_000168.6(GLI3):c.1800G>A (p.Thr600=) rs138445547 0.00006
NM_000168.6(GLI3):c.223C>G (p.Pro75Ala) rs369237977 0.00006
NM_000168.6(GLI3):c.4427A>T (p.Asn1476Ile) rs138100963 0.00006
NM_000168.6(GLI3):c.748C>T (p.Pro250Ser) rs202039538 0.00006
NM_000168.6(GLI3):c.2174A>C (p.Asn725Thr) rs749807129 0.00005
NM_000168.6(GLI3):c.2697C>T (p.Ser899=) rs772034729 0.00005
NM_000168.6(GLI3):c.3162C>T (p.Gly1054=) rs554127075 0.00005
NM_000168.6(GLI3):c.3351G>A (p.Pro1117=) rs368061722 0.00005
NM_000168.6(GLI3):c.600C>T (p.Tyr200=) rs755703829 0.00005
NM_000168.6(GLI3):c.1221C>T (p.Ser407=) rs369180011 0.00004
NM_000168.6(GLI3):c.1540G>A (p.Val514Met) rs148502119 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.2307G>A (p.Pro769=) rs766163765 0.00004
NM_000168.6(GLI3):c.4619C>A (p.Thr1540Lys) rs748031460 0.00004
NM_000168.6(GLI3):c.963C>T (p.Leu321=) rs34965132 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.1498-6C>A rs754600966 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.4180C>T (p.Arg1394Cys) rs577664817 0.00003
NM_000168.6(GLI3):c.974G>A (p.Arg325His) rs781356257 0.00003
NM_000168.6(GLI3):c.1063G>A (p.Val355Ile) rs186192284 0.00002
NM_000168.6(GLI3):c.1983G>C (p.Gln661His) rs564000094 0.00002
NM_000168.6(GLI3):c.2409G>A (p.Ala803=) rs138416748 0.00002
NM_000168.6(GLI3):c.2540G>A (p.Arg847Lys) rs143406263 0.00002
NM_000168.6(GLI3):c.3631G>A (p.Gly1211Arg) rs757059523 0.00002
NM_000168.6(GLI3):c.4560G>A (p.Ser1520=) rs79625212 0.00002
NM_000168.6(GLI3):c.1525G>A (p.Glu509Lys) rs761808583 0.00001
NM_000168.6(GLI3):c.1779C>T (p.Arg593=) rs371786696 0.00001
NM_000168.6(GLI3):c.1945C>T (p.Arg649Trp) rs757597719 0.00001
NM_000168.6(GLI3):c.2233G>A (p.Asp745Asn) rs142249104 0.00001
NM_000168.6(GLI3):c.2309C>T (p.Ala770Val) rs144772281 0.00001
NM_000168.6(GLI3):c.2432-5T>C rs768250382 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.2652C>T (p.Gly884=) rs886042483 0.00001
NM_000168.6(GLI3):c.2881G>A (p.Gly961Arg) rs745986297 0.00001
NM_000168.6(GLI3):c.2936_2953dup (p.Ala984_His985insArgSerAspGlyGlyAla) rs1252097775 0.00001
NM_000168.6(GLI3):c.3141G>A (p.Gln1047=) rs201820452 0.00001
NM_000168.6(GLI3):c.3261C>T (p.Asn1087=) rs370714837 0.00001
NM_000168.6(GLI3):c.3557C>T (p.Pro1186Leu) rs541487979 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.4450G>A (p.Ala1484Thr) rs1423837015 0.00001
NM_000168.6(GLI3):c.4638A>T (p.Pro1546=) rs1233172983 0.00001
NM_000168.6(GLI3):c.648C>T (p.Ile216=) rs886043938 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
NM_000168.6(GLI3):c.825T>C (p.Asp275=) rs201269781 0.00001
NM_000168.6(GLI3):c.901G>A (p.Asp301Asn) rs752246768 0.00001
GRCh37/hg19 7p14.1(chr7:42156923-42225427)x1
GRCh37/hg19 7p14.1(chr7:42174178-42319482)x3
GRCh37/hg19 7p14.1(chr7:42255311-42634746)x3
NM_000168.6(GLI3):c.*2358del rs144064690
NM_000168.6(GLI3):c.*2358dup rs144064690
NM_000168.6(GLI3):c.*248del rs5883809
NM_000168.6(GLI3):c.*248dup rs5883809
NM_000168.6(GLI3):c.*265del rs550264781
NM_000168.6(GLI3):c.*265dup rs550264781
NM_000168.6(GLI3):c.*2859G>A
NM_000168.6(GLI3):c.*3341dup rs138425063
NM_000168.6(GLI3):c.-116_-110del
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.1002T>A (p.Tyr334Ter) rs760303531
NM_000168.6(GLI3):c.1008C>A (p.His336Gln) rs1562698465
NM_000168.6(GLI3):c.100G>A (p.Val34Ile) rs201887880
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.1096C>T (p.Arg366Ter) rs1583805203
NM_000168.6(GLI3):c.1097_1099del (p.Arg366del)
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.1318G>A (p.Asp440Asn)
NM_000168.6(GLI3):c.1346G>C (p.Arg449Pro) rs745809543
NM_000168.6(GLI3):c.1356+10C>T rs765591867
NM_000168.6(GLI3):c.1357-304_1357-303dup rs113898315
NM_000168.6(GLI3):c.1357-3C>T rs886043679
NM_000168.6(GLI3):c.1363C>T (p.Pro455Ser)
NM_000168.6(GLI3):c.1421C>T (p.Pro474Leu)
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.148T>C (p.Tyr50His)
NM_000168.6(GLI3):c.1497+1G>A rs1399654830
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.1553T>A (p.Leu518Gln)
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.1622C>T (p.Thr541Met) rs1562667078
NM_000168.6(GLI3):c.1648-220del rs60699625
NM_000168.6(GLI3):c.1648-230dup rs60699625
NM_000168.6(GLI3):c.1696C>T (p.His566Tyr)
NM_000168.6(GLI3):c.1697del (p.His566fs) rs886039667
NM_000168.6(GLI3):c.169G>T (p.Ala57Ser)
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.1812+3A>T rs796064500
NM_000168.6(GLI3):c.1813-11G>A
NM_000168.6(GLI3):c.1813-3C>G rs2128710047
NM_000168.6(GLI3):c.1848G>C (p.Lys616Asn)
NM_000168.6(GLI3):c.1850G>A (p.Arg617His)
NM_000168.6(GLI3):c.186A>G (p.Pro62=) rs1452738609
NM_000168.6(GLI3):c.1874G>A (p.Arg625Gln) rs1554306094
NM_000168.6(GLI3):c.1880A>G (p.His627Arg)
NM_000168.6(GLI3):c.1880_1881del (p.His627fs) rs2128710014
NM_000168.6(GLI3):c.1937_1949dup (p.Pro652fs)
NM_000168.6(GLI3):c.1946G>A (p.Arg649Gln)
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.2003C>G (p.Pro668Arg) rs143009880
NM_000168.6(GLI3):c.2032G>T (p.Asp678Tyr) rs1554306039
NM_000168.6(GLI3):c.2048C>T (p.Thr683Ile) rs979364849
NM_000168.6(GLI3):c.2071C>T (p.Gln691Ter) rs1554306031
NM_000168.6(GLI3):c.2081C>T (p.Thr694Ile)
NM_000168.6(GLI3):c.2085C>A (p.Val695=)
NM_000168.6(GLI3):c.2104-143del rs57654200
NM_000168.6(GLI3):c.2117G>T (p.Ser706Ile)
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.2308G>T (p.Ala770Ser) rs1355649064
NM_000168.6(GLI3):c.2314A>T (p.Thr772Ser) rs2128706995
NM_000168.6(GLI3):c.2326G>A (p.Glu776Lys)
NM_000168.6(GLI3):c.2329C>T (p.His777Tyr)
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.2381A>G (p.Asn794Ser)
NM_000168.6(GLI3):c.2419C>T (p.Leu807Phe) rs886039381
NM_000168.6(GLI3):c.2429A>G (p.Asn810Ser)
NM_000168.6(GLI3):c.2431+1G>A
NM_000168.6(GLI3):c.2431+201dup rs34658310
NM_000168.6(GLI3):c.2441C>A (p.Ser814Tyr)
NM_000168.6(GLI3):c.2482C>T (p.Pro828Ser)
NM_000168.6(GLI3):c.2587C>T (p.Arg863Cys)
NM_000168.6(GLI3):c.2594C>G (p.Ser865Ter) rs2128706319
NM_000168.6(GLI3):c.2615C>G (p.Ser872Cys)
NM_000168.6(GLI3):c.2625C>G (p.Arg875=) rs949898100
NM_000168.6(GLI3):c.2647G>T (p.Glu883Ter) rs1787185991
NM_000168.6(GLI3):c.2659C>A (p.Gln887Lys)
NM_000168.6(GLI3):c.2671G>A (p.Val891Met)
NM_000168.6(GLI3):c.2678A>G (p.Asp893Gly)
NM_000168.6(GLI3):c.2690C>G (p.Pro897Arg) rs2128706252
NM_000168.6(GLI3):c.2740G>C (p.Gly914Arg) rs147004305
NM_000168.6(GLI3):c.2767C>G (p.Pro923Ala)
NM_000168.6(GLI3):c.2768C>G (p.Pro923Arg)
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.2845G>A (p.Glu949Lys)
NM_000168.6(GLI3):c.2867G>A (p.Arg956His)
NM_000168.6(GLI3):c.2875C>G (p.Leu959Val)
NM_000168.6(GLI3):c.2892C>T (p.Leu964=)
NM_000168.6(GLI3):c.2901del (p.Val968fs) rs1064796278
NM_000168.6(GLI3):c.293C>T (p.Ala98Val)
NM_000168.6(GLI3):c.2977C>T (p.Gln993Ter)
NM_000168.6(GLI3):c.29C>A (p.Thr10Asn) rs1554341697
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.309G>A (p.Pro103=)
NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys) rs772839719
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.3166C>A (p.Gln1056Lys)
NM_000168.6(GLI3):c.3183C>G (p.His1061Gln) rs565428084
NM_000168.6(GLI3):c.3243C>G (p.Asp1081Glu)
NM_000168.6(GLI3):c.3324C>G (p.Tyr1108Ter) rs116840766
NM_000168.6(GLI3):c.3372C>T (p.His1124=) rs542238121
NM_000168.6(GLI3):c.3378del (p.Gly1127fs)
NM_000168.6(GLI3):c.337C>T (p.Pro113Ser)
NM_000168.6(GLI3):c.3386T>C (p.Phe1129Ser)
NM_000168.6(GLI3):c.3397G>A (p.Gly1133Arg)
NM_000168.6(GLI3):c.3437_3453del (p.Leu1146fs) rs2128705618
NM_000168.6(GLI3):c.3454G>T (p.Glu1152Ter)
NM_000168.6(GLI3):c.3478A>G (p.Ile1160Val)
NM_000168.6(GLI3):c.3486G>A (p.Trp1162Ter) rs2128705596
NM_000168.6(GLI3):c.3490G>T (p.Glu1164Ter)
NM_000168.6(GLI3):c.3496A>G (p.Ser1166Gly)
NM_000168.6(GLI3):c.352A>C (p.Met118Leu)
NM_000168.6(GLI3):c.3540_3550del (p.Pro1181fs) rs2128705546
NM_000168.6(GLI3):c.3601C>T (p.Pro1201Ser)
NM_000168.6(GLI3):c.3624dup (p.Pro1209fs) rs1787139771
NM_000168.6(GLI3):c.3640C>T (p.Gln1214Ter)
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.3718A>G (p.Ser1240Gly)
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.3756G>C (p.Pro1252=) rs758155716
NM_000168.6(GLI3):c.3771del (p.Leu1258fs) rs1554304508
NM_000168.6(GLI3):c.3828del (p.Gln1277fs)
NM_000168.6(GLI3):c.3840G>C (p.Lys1280Asn)
NM_000168.6(GLI3):c.3859C>G (p.Gln1287Glu)
NM_000168.6(GLI3):c.3965A>C (p.Tyr1322Ser)
NM_000168.6(GLI3):c.3986G>T (p.Gly1329Val) rs1583728660
NM_000168.6(GLI3):c.4007_4009delinsAGT (p.Gly1336_Ala1337delinsGluSer) rs1562657448
NM_000168.6(GLI3):c.4010del (p.Ala1337fs) rs1583728570
NM_000168.6(GLI3):c.4017_4018insG (p.Pro1340fs)
NM_000168.6(GLI3):c.4019C>G (p.Pro1340Arg)
NM_000168.6(GLI3):c.4020C>T (p.Pro1340=) rs35139358
NM_000168.6(GLI3):c.4037_4046dup (p.Ser1349delinsArgAlaAspTer) rs1562657370
NM_000168.6(GLI3):c.4046G>A (p.Ser1349Asn)
NM_000168.6(GLI3):c.4054T>C (p.Ser1352Pro)
NM_000168.6(GLI3):c.4070_4071inv (p.Tyr1357Cys)
NM_000168.6(GLI3):c.407C>T (p.Pro136Leu)
NM_000168.6(GLI3):c.4095A>C (p.Pro1365=)
NM_000168.6(GLI3):c.4108A>G (p.Met1370Val)
NM_000168.6(GLI3):c.4141del (p.Arg1381fs)
NM_000168.6(GLI3):c.4145G>A (p.Gly1382Asp) rs1064796822
NM_000168.6(GLI3):c.4194_4204del (p.Arg1399fs) rs2128705010
NM_000168.6(GLI3):c.4217C>G (p.Ser1406Ter) rs2128705002
NM_000168.6(GLI3):c.421C>T (p.His141Tyr) rs1562716738
NM_000168.6(GLI3):c.4236_4237del (p.Gln1414fs)
NM_000168.6(GLI3):c.4240C>T (p.Gln1414Ter)
NM_000168.6(GLI3):c.426T>A (p.His142Gln)
NM_000168.6(GLI3):c.4271A>T (p.Glu1424Val)
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.4383_4387del (p.Ile1462fs) rs2128704900
NM_000168.6(GLI3):c.4411G>A (p.Gly1471Arg)
NM_000168.6(GLI3):c.4430C>A (p.Ser1477Tyr)
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter) rs1057520063
NM_000168.6(GLI3):c.4441T>C (p.Ser1481Pro)
NM_000168.6(GLI3):c.4453A>T (p.Asn1485Tyr) rs2128704858
NM_000168.6(GLI3):c.4458G>C (p.Gln1486His)
NM_000168.6(GLI3):c.4484A>G (p.Asp1495Gly)
NM_000168.6(GLI3):c.4534G>A (p.Asp1512Asn)
NM_000168.6(GLI3):c.4564dup (p.Ala1522fs)
NM_000168.6(GLI3):c.4576A>G (p.Ser1526Gly)
NM_000168.6(GLI3):c.4581C>G (p.Ile1527Met)
NM_000168.6(GLI3):c.45del (p.Val16fs)
NM_000168.6(GLI3):c.4606T>A (p.Ser1536Thr) rs75313224
NM_000168.6(GLI3):c.4624C>T (p.Arg1542Trp)
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+1G>A rs2128751733
NM_000168.6(GLI3):c.473+210G>A rs567885367
NM_000168.6(GLI3):c.474-6A>G rs778136455
NM_000168.6(GLI3):c.474G>A (p.Met158Ile)
NM_000168.6(GLI3):c.491G>A (p.Ser164Asn)
NM_000168.6(GLI3):c.546C>A (p.Pro182=) rs751666907
NM_000168.6(GLI3):c.632C>T (p.Pro211Leu)
NM_000168.6(GLI3):c.634T>A (p.Ser212Thr)
NM_000168.6(GLI3):c.679+156del rs144496307
NM_000168.6(GLI3):c.687T>A (p.His229Gln)
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.837C>A (p.Phe279Leu)
NM_000168.6(GLI3):c.887T>C (p.Ile296Thr)
NM_000168.6(GLI3):c.898_900dup (p.Ser300_Asp301insSer)

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