ClinVar Miner

List of variants in gene GLI3 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
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.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457 0.00027
NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=) rs148043302 0.00019
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) rs376725882 0.00016
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.3734A>G (p.His1245Arg) rs372740903 0.00009
NM_000168.6(GLI3):c.1182A>G (p.Pro394=) rs748606221 0.00008
NM_000168.6(GLI3):c.223C>G (p.Pro75Ala) rs369237977 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.1969G>A (p.Gly657Ser) rs377579354 0.00004
NM_000168.6(GLI3):c.4619C>A (p.Thr1540Lys) rs748031460 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.2652C>T (p.Gly884=) rs886042483 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.2540G>A (p.Arg847Lys) rs143406263 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.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.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.3756G>A (p.Pro1252=) rs758155716 0.00001
NM_000168.6(GLI3):c.4450G>A (p.Ala1484Thr) rs1423837015 0.00001
NM_000168.6(GLI3):c.648C>T (p.Ile216=) rs886043938 0.00001
NM_000168.6(GLI3):c.781G>A (p.Ala261Thr) rs139274834 0.00001
GRCh37/hg19 7p14.1(chr7:42174178-42319482)x3
GRCh37/hg19 7p14.1(chr7:42255311-42634746)x3
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.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.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.1318G>A (p.Asp440Asn)
NM_000168.6(GLI3):c.1346G>C (p.Arg449Pro) rs745809543
NM_000168.6(GLI3):c.1357-3C>T rs886043679
NM_000168.6(GLI3):c.1421C>T (p.Pro474Leu)
NM_000168.6(GLI3):c.148T>C (p.Tyr50His)
NM_000168.6(GLI3):c.1497+5G>A rs2128730749
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.1613G>A (p.Arg538Lys) rs2128712790
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.1848G>C (p.Lys616Asn)
NM_000168.6(GLI3):c.1880A>G (p.His627Arg)
NM_000168.6(GLI3):c.1946G>A (p.Arg649Gln)
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.2134T>C (p.Ser712Pro) rs2128707312
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.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.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.2690C>G (p.Pro897Arg) rs2128706252
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>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.293C>T (p.Ala98Val)
NM_000168.6(GLI3):c.29C>A (p.Thr10Asn) rs1554341697
NM_000168.6(GLI3):c.3029G>A (p.Arg1010Gln) rs1787165767
NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys) rs772839719
NM_000168.6(GLI3):c.3155C>G (p.Pro1052Arg) rs2128705843
NM_000168.6(GLI3):c.3243C>G (p.Asp1081Glu)
NM_000168.6(GLI3):c.3386T>C (p.Phe1129Ser)
NM_000168.6(GLI3):c.3397G>A (p.Gly1133Arg)
NM_000168.6(GLI3):c.3478A>G (p.Ile1160Val)
NM_000168.6(GLI3):c.3601C>T (p.Pro1201Ser)
NM_000168.6(GLI3):c.3718A>G (p.Ser1240Gly)
NM_000168.6(GLI3):c.3727G>C (p.Ala1243Pro) rs1404736446
NM_000168.6(GLI3):c.3741G>T (p.Gln1247His) rs769289785
NM_000168.6(GLI3):c.3965A>C (p.Tyr1322Ser)
NM_000168.6(GLI3):c.4007_4009delinsAGT (p.Gly1336_Ala1337delinsGluSer) rs1562657448
NM_000168.6(GLI3):c.4019C>G (p.Pro1340Arg)
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.421C>T (p.His141Tyr) rs1562716738
NM_000168.6(GLI3):c.426T>A (p.His142Gln)
NM_000168.6(GLI3):c.4292C>T (p.Pro1431Leu) rs144128064
NM_000168.6(GLI3):c.4349T>G (p.Phe1450Cys) rs886042309
NM_000168.6(GLI3):c.4411G>A (p.Gly1471Arg)
NM_000168.6(GLI3):c.4453A>T (p.Asn1485Tyr) rs2128704858
NM_000168.6(GLI3):c.4484A>G (p.Asp1495Gly)
NM_000168.6(GLI3):c.4576A>G (p.Ser1526Gly)
NM_000168.6(GLI3):c.4606T>A (p.Ser1536Thr) rs75313224
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.491G>A (p.Ser164Asn)
NM_000168.6(GLI3):c.632C>T (p.Pro211Leu)
NM_000168.6(GLI3):c.634T>A (p.Ser212Thr)
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.898_900dup (p.Ser300_Asp301insSer)

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