ClinVar Miner

List of variants in gene GLI2 studied for not specified

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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.457+70G>A rs11681136 0.93205
NM_001374353.1(GLI2):c.1182+47T>C rs2592590 0.88095
NM_001374353.1(GLI2):c.1060-27C>T rs2592591 0.88085
NM_001374353.1(GLI2):c.801G>A (p.Ser267=) rs2592595 0.82634
NM_001374353.1(GLI2):c.1632+49C>T rs280196 0.78373
NM_001374353.1(GLI2):c.643+35T>C rs12617878 0.77226
NM_001374353.1(GLI2):c.643+24G>A rs12614482 0.77219
NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn) rs12711538 0.66550
NM_001374353.1(GLI2):c.2242+35A>G rs2276553 0.62175
NM_001374353.1(GLI2):c.3888A>G (p.Pro1296=) rs10167980 0.61468
NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser) rs3738880 0.61025
NM_001374353.1(GLI2):c.2889C>T (p.Ser963=) rs146811565 0.04735
NM_001374353.1(GLI2):c.1317+25C>T rs116523674 0.03000
NM_001374353.1(GLI2):c.3831G>A (p.Thr1277=) rs115052795 0.02871
NM_001374353.1(GLI2):c.2997C>T (p.Asp999=) rs140479803 0.02616
NM_001374353.1(GLI2):c.1893C>T (p.Thr631=) rs13008360 0.02306
NM_001374353.1(GLI2):c.1633-17C>T rs78949549 0.01801
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238 0.01651
NM_001374353.1(GLI2):c.963C>G (p.Pro321=) rs149894186 0.01440
NM_001374353.1(GLI2):c.1710G>A (p.Thr570=) rs61732852 0.01154
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val) rs149140724 0.00970
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_001374353.1(GLI2):c.1632+37G>A rs41279790 0.00943
NM_001374353.1(GLI2):c.-7G>A rs112131051 0.00890
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) rs114823319 0.00522
NM_001374353.1(GLI2):c.720C>T (p.Asp240=) rs142793481 0.00483
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile) rs146467786 0.00465
NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe) rs146207623 0.00465
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=) rs146059306 0.00325
NM_001374353.1(GLI2):c.2967C>T (p.Gly989=) rs373880077 0.00285
NM_001374353.1(GLI2):c.148+14C>T rs190309269 0.00269
NM_001374353.1(GLI2):c.1751A>G (p.Asn584Ser) rs61732851 0.00254
NM_001374353.1(GLI2):c.803C>T (p.Ala268Val) rs146992756 0.00254
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu) rs147580961 0.00222
NM_001374353.1(GLI2):c.3477G>T (p.Gln1159His) rs139686081 0.00181
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) rs114259687 0.00177
NM_001374353.1(GLI2):c.1243G>A (p.Val415Met) rs142296407 0.00124
NM_001374353.1(GLI2):c.4446T>C (p.Thr1482=) rs151090814 0.00101
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128 0.00099
NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg) rs563818052 0.00088
NM_001374353.1(GLI2):c.4030G>T (p.Val1344Leu) rs145939921 0.00081
NM_001374353.1(GLI2):c.1632+36G>A rs117209625 0.00076
NM_001374353.1(GLI2):c.3979C>T (p.Leu1327=) rs149290823 0.00073
NM_001374353.1(GLI2):c.254+32C>T rs183122114 0.00068
NM_001374353.1(GLI2):c.4577G>A (p.Arg1526His) rs138987487 0.00059
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His) rs149091975 0.00053
NM_001374353.1(GLI2):c.2034G>A (p.Thr678=) rs139298853 0.00041
NM_001374353.1(GLI2):c.3672G>A (p.Met1224Ile) rs138191075 0.00041
NM_001374353.1(GLI2):c.4530T>C (p.Gly1510=) rs144700510 0.00036
NM_001374353.1(GLI2):c.3309C>T (p.Ser1103=) rs145751002 0.00035
NM_001374353.1(GLI2):c.1632+11G>A rs140347335 0.00034
NM_001374353.1(GLI2):c.644-28G>C rs377244467 0.00032
NM_001374353.1(GLI2):c.2013C>T (p.Pro671=) rs147314921 0.00024
NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=) rs200499325 0.00020
NM_001374353.1(GLI2):c.4014A>G (p.Gln1338=) rs374113689 0.00013
NM_001374353.1(GLI2):c.4402C>G (p.Pro1468Ala) rs145958673 0.00009
NM_001374353.1(GLI2):c.315G>A (p.Pro105=) rs139473153 0.00006
NM_001374353.1(GLI2):c.1633-4C>G rs377701321 0.00004
NM_001374353.1(GLI2):c.2253G>A (p.Leu751=) rs140033553 0.00004
NM_001374353.1(GLI2):c.1317+40G>A rs376983809 0.00003
NM_001374353.1(GLI2):c.2284C>T (p.Pro762Ser) rs773216992 0.00002
NM_001374353.1(GLI2):c.1467G>A (p.Thr489=) rs1016718367 0.00001
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser) rs572826436 0.00001
NM_001374353.1(GLI2):c.3035C>T (p.Pro1012Leu) rs765093621 0.00001
GRCh37/hg19 2q14.2(chr2:121570407-121739448)x3
GRCh37/hg19 2q14.2(chr2:121728206-121799987)
GRCh37/hg19 2q14.2(chr2:121728275-121792474)
GRCh37/hg19 2q14.2(chr2:121733319-121923165)
NM_001374353.1(GLI2):c.1010C>T (p.Thr337Met)
NM_001374353.1(GLI2):c.1298C>T (p.Thr433Ile)
NM_001374353.1(GLI2):c.1394A>C (p.Lys465Thr)
NM_001374353.1(GLI2):c.1468-12G>A
NM_001374353.1(GLI2):c.1518C>A (p.His506Gln)
NM_001374353.1(GLI2):c.1633-15T>C
NM_001374353.1(GLI2):c.1639T>G (p.Tyr547Asp) rs1015526827
NM_001374353.1(GLI2):c.1672T>C (p.Tyr558His) rs763503195
NM_001374353.1(GLI2):c.1676C>T (p.Thr559Ile)
NM_001374353.1(GLI2):c.178G>C (p.Ala60Pro)
NM_001374353.1(GLI2):c.1861G>A (p.Glu621Lys)
NM_001374353.1(GLI2):c.2118G>A (p.Met706Ile)
NM_001374353.1(GLI2):c.2136C>A (p.Phe712Leu) rs151179617
NM_001374353.1(GLI2):c.2243-6C>A rs1553478404
NM_001374353.1(GLI2):c.2939C>T (p.Pro980Leu)
NM_001374353.1(GLI2):c.3190G>T (p.Gly1064Cys)
NM_001374353.1(GLI2):c.3367A>G (p.Asn1123Asp)
NM_001374353.1(GLI2):c.3500C>A (p.Pro1167Gln) rs754763067
NM_001374353.1(GLI2):c.4027G>C (p.Gly1343Arg)
NM_001374353.1(GLI2):c.4509T>G (p.Asp1503Glu) rs148902971
NM_001374353.1(GLI2):c.643+16C>G rs6718382
NM_001374353.1(GLI2):c.649C>G (p.Arg217Gly) rs149819397
NM_001374353.1(GLI2):c.845+6C>T rs1057523120

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