ClinVar Miner

List of variants in gene GLI3 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) rs376725882 0.00016
NM_000168.6(GLI3):c.748C>T (p.Pro250Ser) rs202039538 0.00006
NM_000168.6(GLI3):c.1969G>A (p.Gly657Ser) rs377579354 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.1983G>C (p.Gln661His) rs564000094 0.00002
NM_000168.6(GLI3):c.2540G>A (p.Arg847Lys) rs143406263 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.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.781G>A (p.Ala261Thr) rs139274834 0.00001
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.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.1880A>G (p.His627Arg)
NM_000168.6(GLI3):c.2000G>T (p.Arg667Leu) rs373926115
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.2419C>T (p.Leu807Phe) rs886039381
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.293C>T (p.Ala98Val)
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.3140_3141delinsCA (p.Gln1047Pro) rs1064796326
NM_000168.6(GLI3):c.3155C>G (p.Pro1052Arg) rs2128705843
NM_000168.6(GLI3):c.3243C>G (p.Asp1081Glu)
NM_000168.6(GLI3):c.3478A>G (p.Ile1160Val)
NM_000168.6(GLI3):c.3601C>T (p.Pro1201Ser)
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.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.4292C>T (p.Pro1431Leu) rs144128064
NM_000168.6(GLI3):c.4349T>G (p.Phe1450Cys) rs886042309
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.4676T>C (p.Ile1559Thr) rs2128704689
NM_000168.6(GLI3):c.4682A>G (p.Asp1561Gly) rs2128704685
NM_000168.6(GLI3):c.634T>A (p.Ser212Thr)
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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