ClinVar Miner

List of variants in gene GLI3 reported as uncertain significance for Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome

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Total variants: 42
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HGVS dbSNP
NM_000168.6(GLI3):c.1024A>G (p.Ile342Val) rs771132000
NM_000168.6(GLI3):c.1177A>G (p.Ile393Val) rs1380213537
NM_000168.6(GLI3):c.1184G>A (p.Gly395Glu) rs1345463284
NM_000168.6(GLI3):c.1242+6del rs772496012
NM_000168.6(GLI3):c.1346G>A (p.Arg449Gln) rs745809543
NM_000168.6(GLI3):c.1462G>A (p.Ala488Thr) rs756581886
NM_000168.6(GLI3):c.1474G>A (p.Asp492Asn) rs886320788
NM_000168.6(GLI3):c.1777C>G (p.Arg593Gly)
NM_000168.6(GLI3):c.1919A>G (p.Lys640Arg) rs1583741915
NM_000168.6(GLI3):c.1930G>A (p.Gly644Arg) rs917006091
NM_000168.6(GLI3):c.1992G>A (p.Ser664=) rs770030848
NM_000168.6(GLI3):c.2098C>T (p.Pro700Ser)
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_000168.6(GLI3):c.2174A>C (p.Asn725Thr) rs749807129
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val) rs140048578
NM_000168.6(GLI3):c.2605C>T (p.Pro869Ser)
NM_000168.6(GLI3):c.2623C>T (p.Arg875Cys)
NM_000168.6(GLI3):c.2729G>A (p.Ser910Asn)
NM_000168.6(GLI3):c.272A>G (p.His91Arg) rs768107926
NM_000168.6(GLI3):c.3079C>T (p.Leu1027Phe) rs746534141
NM_000168.6(GLI3):c.3115G>A (p.Ala1039Thr) rs770430876
NM_000168.6(GLI3):c.3122A>G (p.Lys1041Arg) rs747875277
NM_000168.6(GLI3):c.320C>T (p.Thr107Met)
NM_000168.6(GLI3):c.3509C>G (p.Ala1170Gly) rs143942705
NM_000168.6(GLI3):c.3591G>A (p.Met1197Ile)
NM_000168.6(GLI3):c.3670G>A (p.Gly1224Ser)
NM_000168.6(GLI3):c.3790G>A (p.Ala1264Thr) rs141285034
NM_000168.6(GLI3):c.3823G>A (p.Gly1275Arg) rs756156901
NM_000168.6(GLI3):c.3857T>G (p.Met1286Arg)
NM_000168.6(GLI3):c.3877C>G (p.Leu1293Val)
NM_000168.6(GLI3):c.4382C>T (p.Ser1461Phe)
NM_000168.6(GLI3):c.4508A>T (p.Gln1503Leu)
NM_000168.6(GLI3):c.4564G>T (p.Ala1522Ser) rs758379697
NM_000168.6(GLI3):c.4597C>A (p.His1533Asn)
NM_000168.6(GLI3):c.4610G>A (p.Arg1537His)
NM_000168.6(GLI3):c.4649T>C (p.Leu1550Pro) rs756335435
NM_000168.6(GLI3):c.4709C>T (p.Ala1570Val)
NM_000168.6(GLI3):c.473+5G>A
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln) rs140772904
NM_000168.6(GLI3):c.658C>T (p.Arg220Cys)
NM_000168.6(GLI3):c.781G>A (p.Ala261Thr) rs139274834
NM_000168.6(GLI3):c.847A>T (p.Arg283Trp) rs746870989

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