ClinVar Miner

List of variants in gene GLI3 reported as pathogenic

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Gene type:
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Total variants: 67
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HGVS dbSNP
GLI3, 1-BP DEL, 1018A
GLI3, 1-BP DEL, 2372C
GLI3, 1-BP DEL, 3707G
GLI3, 1-BP INS, 3647C
GLI3, 4-BP DEL, 4542CCAC
GLI3, CODON 764, FS
GLI3, DEL
NM_000168.5(GLI3):c.1191_1206del16 (p.Thr398Serfs) rs1554315071
NM_000168.5(GLI3):c.1451G>A (p.Trp484Ter)
NM_000168.5(GLI3):c.1452G>A (p.Trp484Ter) rs1554314595
NM_000168.5(GLI3):c.1486C>T (p.Gln496Ter) rs121917715
NM_000168.5(GLI3):c.1578delC (p.Phe527Serfs) rs1064793685
NM_000168.5(GLI3):c.1616_1617del (p.Arg539Thrfs) rs398122899
NM_000168.5(GLI3):c.1627G>T (p.Glu543Ter) rs121917711
NM_000168.5(GLI3):c.1697delA (p.His566Profs) rs886039667
NM_000168.5(GLI3):c.1873C>T (p.Arg625Trp) rs121917712
NM_000168.5(GLI3):c.1874G>A (p.Arg625Gln) rs1554306094
NM_000168.5(GLI3):c.1878delA (p.Lys626Asnfs) rs1554306093
NM_000168.5(GLI3):c.1927C>T (p.Arg643Ter) rs121917709
NM_000168.5(GLI3):c.1998_2001delCCGA (p.Pro668Leufs) rs116840742
NM_000168.5(GLI3):c.2012delG (p.Gly671Glufs) rs116840743
NM_000168.5(GLI3):c.2023delG (p.Glu675Serfs) rs116840744
NM_000168.5(GLI3):c.2032delG (p.Asp678Thrfs) rs116840745
NM_000168.5(GLI3):c.2058_2059delGGinsAT (p.Glu687Ter) rs116840746
NM_000168.5(GLI3):c.2062G>T (p.Glu688Ter) rs116840747
NM_000168.5(GLI3):c.2071C>T (p.Gln691Ter) rs1554306031
NM_000168.5(GLI3):c.2110C>T (p.Gln704Ter) rs116840748
NM_000168.5(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_000168.5(GLI3):c.2139delC (p.Cys713Terfs) rs116840749
NM_000168.5(GLI3):c.2146C>T (p.Gln716Ter) rs116840750
NM_000168.5(GLI3):c.2149C>T (p.Gln717Ter) rs116840751
NM_000168.5(GLI3):c.2157delC (p.Ile720Serfs) rs116840752
NM_000168.5(GLI3):c.2172_2173insC (p.Asn725Glnfs) rs116840753
NM_000168.5(GLI3):c.2188_2206delCTTCCTCTGACCGATGGAG (p.Leu730Valfs) rs116840754
NM_000168.5(GLI3):c.2197_2198delAC (p.Thr733Argfs) rs116840755
NM_000168.5(GLI3):c.2252delA (p.Asp751Alafs) rs1057518698
NM_000168.5(GLI3):c.2346_2356delGCTAAAACAAG (p.Arg782Serfs) rs116840756
NM_000168.5(GLI3):c.2351_2355delAACAA (p.Lys784Serfs) rs116840757
NM_000168.5(GLI3):c.2374C>T (p.Arg792Ter) rs121917714
NM_000168.5(GLI3):c.2431+1G>A rs116840758
NM_000168.5(GLI3):c.2483delC (p.Pro828Argfs) rs116840759
NM_000168.5(GLI3):c.2567C>A (p.Ser856Ter) rs116840760
NM_000168.5(GLI3):c.2620delC (p.Arg874Alafs) rs116840761
NM_000168.5(GLI3):c.2628delC (p.Ser877Alafs) rs116840762
NM_000168.5(GLI3):c.2685C>G (p.Tyr895Ter) rs772948115
NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314
NM_000168.5(GLI3):c.2799C>G (p.Tyr933Ter) rs116840763
NM_000168.5(GLI3):c.2800G>C (p.Ala934Pro) rs28933372
NM_000168.5(GLI3):c.2935delT (p.Cys979Alafs) rs116840764
NM_000168.5(GLI3):c.3004delG (p.Val1002Terfs) rs116840765
NM_000168.5(GLI3):c.3147C>G (p.Tyr1049Ter) rs779898173
NM_000168.5(GLI3):c.3324C>A (p.Tyr1108Ter) rs116840766
NM_000168.5(GLI3):c.3324C>G (p.Tyr1108Ter) rs116840766
NM_000168.5(GLI3):c.3386_3387delTT (p.Phe1129Terfs) rs116840767
NM_000168.5(GLI3):c.3439G>T (p.Glu1147Ter) rs116840768
NM_000168.5(GLI3):c.3456G>T (p.Glu1152Asp) rs116840769
NM_000168.5(GLI3):c.3481C>T (p.Gln1161Ter) rs116840770
NM_000168.5(GLI3):c.3635delG (p.Gly1212Alafs) rs1060499558
NM_000168.5(GLI3):c.3904_3912delAATGAGTCAinsT (p.Asn1302Cysfs)
NM_000168.5(GLI3):c.4395delC (p.Ser1466Alafs) rs1554304380
NM_000168.5(GLI3):c.4431dupT (p.Glu1478Terfs) rs1057520063
NM_000168.5(GLI3):c.4498G>T (p.Glu1500Ter)
NM_000168.5(GLI3):c.4665dupC (p.Asn1556Glnfs) rs1554304247
NM_000168.5(GLI3):c.750delC (p.Tyr251Metfs) rs1554317931
NM_000168.5(GLI3):c.868C>T (p.Arg290Ter) rs121917713
NM_000168.6(GLI3):c.1002T>A (p.Tyr334Ter)
NM_000168.6(GLI3):c.1464_1489dup (p.Leu497Argfs) rs1554314581

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