ClinVar Miner

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

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Gene type:
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.*265A>C rs201493390 0.07495
NM_000168.6(GLI3):c.*2666G>A rs117987369 0.00142
NM_000168.6(GLI3):c.*2465G>C rs886062314 0.00011
NM_000168.6(GLI3):c.*2257A>T rs886062316 0.00010
NM_000168.6(GLI3):c.*66G>T rs886062334 0.00010
NM_000168.6(GLI3):c.*974T>A rs886062328 0.00010
NM_000168.6(GLI3):c.*1263C>T rs886062324 0.00006
NM_000168.6(GLI3):c.*2676C>T rs886062312 0.00006
NM_000168.6(GLI3):c.*3369C>A rs886062310 0.00006
NM_000168.6(GLI3):c.*1780C>T rs886062319 0.00004
NM_000168.6(GLI3):c.*1386A>G rs886062322 0.00003
NM_000168.6(GLI3):c.*1007G>A rs886062327 0.00002
NM_000168.6(GLI3):c.*165A>G rs886062333 0.00002
NM_000168.6(GLI3):c.*1366C>T rs886062323 0.00001
NM_000168.6(GLI3):c.*2508G>C rs886062313 0.00001
NM_000168.6(GLI3):c.1845T>C (p.Thr615=) rs373687877 0.00001
NM_000168.6(GLI3):c.1958C>T (p.Pro653Leu) rs141220299 0.00001
NM_000168.6(GLI3):c.2412C>G (p.Val804=) rs761829250 0.00001
NM_000168.6(GLI3):c.2493C>A (p.Ser831Arg) rs752838669 0.00001
NM_000168.6(GLI3):c.4590C>T (p.Asn1530=) rs886062335 0.00001
NM_000168.6(GLI3):c.681G>A (p.Ala227=) rs752998397 0.00001
NM_000168.6(GLI3):c.*1027C>T rs886062326
NM_000168.6(GLI3):c.*1239T>A rs886062325
NM_000168.6(GLI3):c.*1471C>T rs886062321
NM_000168.6(GLI3):c.*1688C>G rs886062320
NM_000168.6(GLI3):c.*1858C>T rs886062318
NM_000168.6(GLI3):c.*2146_*2150del rs774204684
NM_000168.6(GLI3):c.*2216T>C rs886062317
NM_000168.6(GLI3):c.*2358del rs144064690
NM_000168.6(GLI3):c.*2419T>C rs886062315
NM_000168.6(GLI3):c.*248del rs5883809
NM_000168.6(GLI3):c.*248dup rs5883809
NM_000168.6(GLI3):c.*266_*267insA rs1554304160
NM_000168.6(GLI3):c.*3094T>C rs886062311
NM_000168.6(GLI3):c.*512C>T rs886062330
NM_000168.6(GLI3):c.*589T>C rs886062329
NM_000168.6(GLI3):c.-3A>G rs886062340
NM_000168.6(GLI3):c.-47C>T rs886062341
NM_000168.6(GLI3):c.-78G>T rs886062342
NM_000168.6(GLI3):c.-83C>T rs886062343
NM_000168.6(GLI3):c.1315C>T (p.Pro439Ser) rs1789080071
NM_000168.6(GLI3):c.2048C>T (p.Thr683Ile) rs979364849
NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys) rs772839719
NM_000168.6(GLI3):c.353T>C (p.Met118Thr) rs886062339
NM_000168.6(GLI3):c.4296G>A (p.Leu1432=) rs768735366
NM_000168.6(GLI3):c.4642C>T (p.Pro1548Ser)
NM_000168.6(GLI3):c.641C>T (p.Ser214Phe) rs886062338
NM_000168.6(GLI3):c.827-6T>C rs886062337

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