ClinVar Miner

List of variants in gene GLI3 reported as uncertain significance for non-syndromic polydactyly

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 193
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HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) rs376725882 0.00016
NM_000168.6(GLI3):c.4508A>T (p.Gln1503Leu) rs1359183911 0.00014
NM_000168.6(GLI3):c.2200G>A (p.Asp734Asn) rs140479817 0.00010
NM_000168.6(GLI3):c.3734A>G (p.His1245Arg) rs372740903 0.00009
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln) rs140772904 0.00009
NM_000168.6(GLI3):c.223C>G (p.Pro75Ala) rs369237977 0.00006
NM_000168.6(GLI3):c.2174A>C (p.Asn725Thr) rs749807129 0.00005
NM_000168.6(GLI3):c.1325A>G (p.Asp442Gly) rs749073077 0.00004
NM_000168.6(GLI3):c.1540G>A (p.Val514Met) rs148502119 0.00004
NM_000168.6(GLI3):c.3611C>G (p.Pro1204Arg) rs543636524 0.00004
NM_000168.6(GLI3):c.4619C>A (p.Thr1540Lys) rs748031460 0.00004
NM_000168.6(GLI3):c.199G>A (p.Gly67Arg) rs374123528 0.00003
NM_000168.6(GLI3):c.659G>A (p.Arg220His) rs747805984 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.2540G>A (p.Arg847Lys) rs143406263 0.00002
NM_000168.6(GLI3):c.3591G>A (p.Met1197Ile) rs1374541235 0.00002
NM_000168.6(GLI3):c.3823G>A (p.Gly1275Arg) rs756156901 0.00002
NM_000168.6(GLI3):c.658C>T (p.Arg220Cys) rs758039889 0.00002
NM_000168.6(GLI3):c.743G>A (p.Arg248His) rs186337909 0.00002
NM_000168.6(GLI3):c.1024A>G (p.Ile342Val) rs771132000 0.00001
NM_000168.6(GLI3):c.1159T>C (p.Phe387Leu) rs370794111 0.00001
NM_000168.6(GLI3):c.1525G>A (p.Glu509Lys) rs761808583 0.00001
NM_000168.6(GLI3):c.233C>T (p.Ser78Leu) rs777937822 0.00001
NM_000168.6(GLI3):c.2375G>A (p.Arg792Gln) rs546878700 0.00001
NM_000168.6(GLI3):c.2447A>C (p.Asn816Thr) rs968591547 0.00001
NM_000168.6(GLI3):c.2520G>A (p.Met840Ile) rs1283743237 0.00001
NM_000168.6(GLI3):c.2585G>A (p.Arg862His) rs1206529384 0.00001
NM_000168.6(GLI3):c.2623C>T (p.Arg875Cys) rs755227076 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.3278C>T (p.Pro1093Leu) rs777149082 0.00001
NM_000168.6(GLI3):c.3557C>T (p.Pro1186Leu) rs541487979 0.00001
NM_000168.6(GLI3):c.367C>T (p.His123Tyr) rs199909375 0.00001
NM_000168.6(GLI3):c.4148A>G (p.Tyr1383Cys) rs894551472 0.00001
NM_000168.6(GLI3):c.4187C>A (p.Ala1396Asp) rs373003816 0.00001
NM_000168.6(GLI3):c.781G>A (p.Ala261Thr) rs139274834 0.00001
NM_000168.6(GLI3):c.100G>T (p.Val34Phe)
NM_000168.6(GLI3):c.1075A>G (p.Met359Val)
NM_000168.6(GLI3):c.1086G>T (p.Gln362His)
NM_000168.6(GLI3):c.1185G>T (p.Gly395=)
NM_000168.6(GLI3):c.1195G>C (p.Val399Leu)
NM_000168.6(GLI3):c.1235C>A (p.Ser412Tyr)
NM_000168.6(GLI3):c.1318G>A (p.Asp440Asn)
NM_000168.6(GLI3):c.1323A>C (p.Glu441Asp)
NM_000168.6(GLI3):c.1330C>T (p.Pro444Ser)
NM_000168.6(GLI3):c.1343C>T (p.Ala448Val) rs912576738
NM_000168.6(GLI3):c.1345C>T (p.Arg449Trp)
NM_000168.6(GLI3):c.1401A>T (p.Lys467Asn)
NM_000168.6(GLI3):c.1459T>G (p.Cys487Gly) rs2128730770
NM_000168.6(GLI3):c.1471T>C (p.Phe491Leu)
NM_000168.6(GLI3):c.1496A>G (p.His499Arg)
NM_000168.6(GLI3):c.1519C>G (p.His507Asp)
NM_000168.6(GLI3):c.1562C>T (p.Ser521Leu)
NM_000168.6(GLI3):c.1626C>T (p.Gly542=)
NM_000168.6(GLI3):c.1756G>C (p.Ala586Pro)
NM_000168.6(GLI3):c.1778G>A (p.Arg593His)
NM_000168.6(GLI3):c.1791A>G (p.Gln597=)
NM_000168.6(GLI3):c.1808A>G (p.Asn603Ser)
NM_000168.6(GLI3):c.1822G>A (p.Val608Met)
NM_000168.6(GLI3):c.1846A>G (p.Lys616Glu)
NM_000168.6(GLI3):c.1948C>A (p.Pro650Thr)
NM_000168.6(GLI3):c.1949C>T (p.Pro650Leu)
NM_000168.6(GLI3):c.1954C>A (p.Pro652Thr)
NM_000168.6(GLI3):c.2000G>A (p.Arg667Gln)
NM_000168.6(GLI3):c.2000G>T (p.Arg667Leu) rs373926115
NM_000168.6(GLI3):c.2029C>G (p.Gln677Glu)
NM_000168.6(GLI3):c.2039G>A (p.Ser680Asn)
NM_000168.6(GLI3):c.2042A>G (p.Asn681Ser)
NM_000168.6(GLI3):c.2056C>T (p.Arg686Trp)
NM_000168.6(GLI3):c.2083G>T (p.Val695Phe)
NM_000168.6(GLI3):c.2096A>C (p.Lys699Thr)
NM_000168.6(GLI3):c.2101A>G (p.Met701Val)
NM_000168.6(GLI3):c.2200G>T (p.Asp734Tyr)
NM_000168.6(GLI3):c.2305C>T (p.Pro769Ser)
NM_000168.6(GLI3):c.2308G>T (p.Ala770Ser) rs1355649064
NM_000168.6(GLI3):c.2326G>A (p.Glu776Lys)
NM_000168.6(GLI3):c.232T>G (p.Ser78Ala)
NM_000168.6(GLI3):c.2407G>C (p.Ala803Pro)
NM_000168.6(GLI3):c.2408C>T (p.Ala803Val)
NM_000168.6(GLI3):c.2441C>A (p.Ser814Tyr)
NM_000168.6(GLI3):c.2452T>C (p.Cys818Arg)
NM_000168.6(GLI3):c.2465G>A (p.Gly822Glu)
NM_000168.6(GLI3):c.2494G>C (p.Asp832His)
NM_000168.6(GLI3):c.2501C>T (p.Ser834Phe)
NM_000168.6(GLI3):c.2507T>A (p.Val836Glu)
NM_000168.6(GLI3):c.250T>C (p.Ser84Pro) rs2128786883
NM_000168.6(GLI3):c.2532C>T (p.Leu844=)
NM_000168.6(GLI3):c.2587C>A (p.Arg863Ser)
NM_000168.6(GLI3):c.2651G>A (p.Gly884Asp)
NM_000168.6(GLI3):c.2667G>A (p.Val889=)
NM_000168.6(GLI3):c.2678A>G (p.Asp893Gly)
NM_000168.6(GLI3):c.2689C>T (p.Pro897Ser)
NM_000168.6(GLI3):c.2767C>A (p.Pro923Thr)
NM_000168.6(GLI3):c.2767C>G (p.Pro923Ala)
NM_000168.6(GLI3):c.2795A>G (p.Lys932Arg)
NM_000168.6(GLI3):c.2844G>A (p.Met948Ile)
NM_000168.6(GLI3):c.2875C>G (p.Leu959Val)
NM_000168.6(GLI3):c.2883G>T (p.Gly961=)
NM_000168.6(GLI3):c.2927C>G (p.Pro976Arg)
NM_000168.6(GLI3):c.2948G>A (p.Gly983Glu)
NM_000168.6(GLI3):c.2966G>A (p.Arg989Gln)
NM_000168.6(GLI3):c.2968C>T (p.Arg990Cys)
NM_000168.6(GLI3):c.2992C>G (p.Pro998Ala)
NM_000168.6(GLI3):c.3035G>T (p.Gly1012Val)
NM_000168.6(GLI3):c.3059G>A (p.Arg1020His)
NM_000168.6(GLI3):c.3074G>A (p.Ser1025Asn)
NM_000168.6(GLI3):c.3079_3087dup (p.Ser1029_Cys1030insLeuSerSer)
NM_000168.6(GLI3):c.308C>T (p.Pro103Leu)
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.3155C>G (p.Pro1052Arg) rs2128705843
NM_000168.6(GLI3):c.3203G>C (p.Ser1068Thr)
NM_000168.6(GLI3):c.3211G>A (p.Glu1071Lys)
NM_000168.6(GLI3):c.3232C>G (p.Leu1078Val)
NM_000168.6(GLI3):c.3239T>G (p.Met1080Arg)
NM_000168.6(GLI3):c.3243C>G (p.Asp1081Glu)
NM_000168.6(GLI3):c.3284A>G (p.Asp1095Gly) rs1554304659
NM_000168.6(GLI3):c.3286G>A (p.Val1096Met)
NM_000168.6(GLI3):c.3305C>A (p.Ser1102Tyr)
NM_000168.6(GLI3):c.3305C>G (p.Ser1102Cys)
NM_000168.6(GLI3):c.3342C>A (p.Ser1114Arg)
NM_000168.6(GLI3):c.3354C>G (p.Asp1118Glu)
NM_000168.6(GLI3):c.3391G>A (p.Ala1131Thr)
NM_000168.6(GLI3):c.3393G>T (p.Ala1131=)
NM_000168.6(GLI3):c.3397G>A (p.Gly1133Arg)
NM_000168.6(GLI3):c.3436C>T (p.Leu1146Phe)
NM_000168.6(GLI3):c.3451C>A (p.Pro1151Thr)
NM_000168.6(GLI3):c.3478A>G (p.Ile1160Val)
NM_000168.6(GLI3):c.3508_3509delinsAG (p.Ala1170Ser)
NM_000168.6(GLI3):c.3517TCC[2] (p.Ser1175del)
NM_000168.6(GLI3):c.3569C>T (p.Ala1190Val)
NM_000168.6(GLI3):c.3589A>G (p.Met1197Val)
NM_000168.6(GLI3):c.3614T>C (p.Leu1205Ser)
NM_000168.6(GLI3):c.3620_3621delinsAA (p.Ser1207Lys)
NM_000168.6(GLI3):c.3649G>C (p.Gly1217Arg)
NM_000168.6(GLI3):c.367+4A>G
NM_000168.6(GLI3):c.368-3C>T
NM_000168.6(GLI3):c.3695A>C (p.His1232Pro) rs780924905
NM_000168.6(GLI3):c.3715A>G (p.Thr1239Ala)
NM_000168.6(GLI3):c.3746G>A (p.Cys1249Tyr)
NM_000168.6(GLI3):c.3752C>T (p.Ala1251Val)
NM_000168.6(GLI3):c.3755C>G (p.Pro1252Arg)
NM_000168.6(GLI3):c.378T>A (p.His126Gln)
NM_000168.6(GLI3):c.3799G>A (p.Ala1267Thr)
NM_000168.6(GLI3):c.3816_3817del (p.Cys1272fs)
NM_000168.6(GLI3):c.3821C>T (p.Ala1274Val)
NM_000168.6(GLI3):c.3853C>A (p.Pro1285Thr)
NM_000168.6(GLI3):c.3877C>G (p.Leu1293Val) rs1476153727
NM_000168.6(GLI3):c.3985G>C (p.Gly1329Arg)
NM_000168.6(GLI3):c.3988G>A (p.Asp1330Asn)
NM_000168.6(GLI3):c.398C>G (p.Pro133Arg)
NM_000168.6(GLI3):c.4007_4009delinsAGT (p.Gly1336_Ala1337delinsGluSer) rs1562657448
NM_000168.6(GLI3):c.4009G>T (p.Ala1337Ser)
NM_000168.6(GLI3):c.4032G>A (p.Met1344Ile)
NM_000168.6(GLI3):c.4033C>T (p.Leu1345Phe)
NM_000168.6(GLI3):c.4088G>A (p.Cys1363Tyr)
NM_000168.6(GLI3):c.4110G>A (p.Met1370Ile)
NM_000168.6(GLI3):c.4120C>T (p.Pro1374Ser)
NM_000168.6(GLI3):c.4145G>T (p.Gly1382Val)
NM_000168.6(GLI3):c.4208C>A (p.Ala1403Asp)
NM_000168.6(GLI3):c.4267A>C (p.Met1423Leu)
NM_000168.6(GLI3):c.4284G>T (p.Gln1428His)
NM_000168.6(GLI3):c.4292C>T (p.Pro1431Leu) rs144128064
NM_000168.6(GLI3):c.4318T>C (p.Ser1440Pro)
NM_000168.6(GLI3):c.4331A>G (p.Tyr1444Cys)
NM_000168.6(GLI3):c.4352G>A (p.Ser1451Asn)
NM_000168.6(GLI3):c.4394C>T (p.Ala1465Val)
NM_000168.6(GLI3):c.4447G>C (p.Gly1483Arg)
NM_000168.6(GLI3):c.4451C>T (p.Ala1484Val)
NM_000168.6(GLI3):c.4455T>A (p.Asn1485Lys)
NM_000168.6(GLI3):c.446A>T (p.Asp149Val)
NM_000168.6(GLI3):c.4542C>G (p.Asp1514Glu)
NM_000168.6(GLI3):c.4564G>C (p.Ala1522Pro)
NM_000168.6(GLI3):c.4567C>G (p.Leu1523Val)
NM_000168.6(GLI3):c.4574C>T (p.Pro1525Leu)
NM_000168.6(GLI3):c.4597C>A (p.His1533Asn) rs1787103191
NM_000168.6(GLI3):c.4598A>G (p.His1533Arg)
NM_000168.6(GLI3):c.463C>T (p.Pro155Ser)
NM_000168.6(GLI3):c.4652C>G (p.Ser1551Cys)
NM_000168.6(GLI3):c.4709C>T (p.Ala1570Val) rs41305933
NM_000168.6(GLI3):c.4736T>C (p.Met1579Thr)
NM_000168.6(GLI3):c.538C>T (p.Arg180Trp)
NM_000168.6(GLI3):c.655A>G (p.Thr219Ala)
NM_000168.6(GLI3):c.680C>T (p.Ala227Val)
NM_000168.6(GLI3):c.715_735del (p.His239_Thr245del)
NM_000168.6(GLI3):c.746G>A (p.Ser249Asn)
NM_000168.6(GLI3):c.758A>G (p.Asp253Gly) rs2128741235
NM_000168.6(GLI3):c.76C>T (p.Arg26Ter)
NM_000168.6(GLI3):c.776C>G (p.Ala259Gly) rs565817241
NM_000168.6(GLI3):c.784G>A (p.Gly262Ser)
NM_000168.6(GLI3):c.814C>T (p.His272Tyr)
NM_000168.6(GLI3):c.992G>A (p.Ser331Asn)

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