ClinVar Miner

List of variants in gene GLI3 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756 0.00320
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_000168.6(GLI3):c.1357-17C>G rs190600888 0.00256
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.*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.4005G>A (p.Pro1335=) rs149860242 0.00076
NM_000168.6(GLI3):c.*2357T>A rs562705224 0.00055
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.3987C>T (p.Gly1329=) rs145859702 0.00027
NM_000168.6(GLI3):c.*332T>C rs190531579 0.00023
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.288C>T (p.His96=) rs200905584 0.00009
NM_000168.6(GLI3):c.363C>T (p.His121=) rs150295615 0.00008
NM_000168.6(GLI3):c.3351G>A (p.Pro1117=) rs368061722 0.00005
NM_000168.6(GLI3):c.1221C>T (p.Ser407=) rs369180011 0.00004
NM_000168.6(GLI3):c.974G>A (p.Arg325His) rs781356257 0.00003
NM_000168.6(GLI3):c.2409G>A (p.Ala803=) rs138416748 0.00002
NM_000168.6(GLI3):c.2432-5T>C rs768250382 0.00001
NM_000168.6(GLI3):c.2881G>A (p.Gly961Arg) rs745986297 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.*248dup rs5883809
NM_000168.6(GLI3):c.*2859G>A
NM_000168.6(GLI3):c.-116_-110del
NM_000168.6(GLI3):c.1318G>A (p.Asp440Asn)
NM_000168.6(GLI3):c.1421C>T (p.Pro474Leu)
NM_000168.6(GLI3):c.1462_1497+2dup rs1789003501
NM_000168.6(GLI3):c.1497+1G>A rs1399654830
NM_000168.6(GLI3):c.1622C>T (p.Thr541Met) rs1562667078
NM_000168.6(GLI3):c.1874G>A (p.Arg625Gln) rs1554306094
NM_000168.6(GLI3):c.1880A>G (p.His627Arg)
NM_000168.6(GLI3):c.1937_1949dup (p.Pro652fs)
NM_000168.6(GLI3):c.2429A>G (p.Asn810Ser)
NM_000168.6(GLI3):c.2431+1G>A
NM_000168.6(GLI3):c.2892C>T (p.Leu964=)
NM_000168.6(GLI3):c.3372C>T (p.His1124=) rs542238121
NM_000168.6(GLI3):c.3540_3550del (p.Pro1181fs) rs2128705546
NM_000168.6(GLI3):c.3718A>G (p.Ser1240Gly)
NM_000168.6(GLI3):c.4037_4046dup (p.Ser1349delinsArgAlaAspTer) rs1562657370
NM_000168.6(GLI3):c.4095A>C (p.Pro1365=)
NM_000168.6(GLI3):c.421C>T (p.His141Tyr) rs1562716738
NM_000168.6(GLI3):c.4383_4387del (p.Ile1462fs) rs2128704900
NM_000168.6(GLI3):c.4576A>G (p.Ser1526Gly)
NM_000168.6(GLI3):c.45del (p.Val16fs)
NM_000168.6(GLI3):c.837C>A (p.Phe279Leu)

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