ClinVar Miner

List of variants in gene GLI2 reported by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.1468-98T>G rs1530580 0.99388
NM_001374353.1(GLI2):c.457+70G>A rs11681136 0.93205
NM_001374353.1(GLI2):c.1468-102C>T rs1968619 0.92843
NM_001374353.1(GLI2):c.846-127G>A rs1867906 0.92067
NM_001374353.1(GLI2):c.1182+331T>C rs2592588 0.88100
NM_001374353.1(GLI2):c.1182+47T>C rs2592590 0.88095
NM_001374353.1(GLI2):c.1182+211A>G rs2677506 0.88093
NM_001374353.1(GLI2):c.1060-27C>T rs2592591 0.88085
NM_001374353.1(GLI2):c.1060-157T>C rs2592592 0.88071
NM_001374353.1(GLI2):c.1060-341C>G rs2243854 0.87756
NM_001374353.1(GLI2):c.801G>A (p.Ser267=) rs2592595 0.82634
NM_001374353.1(GLI2):c.846-216A>G rs6728598 0.82631
NM_001374353.1(GLI2):c.149-274C>G rs6745937 0.82005
NM_001374353.1(GLI2):c.1632+49C>T rs280196 0.78373
NM_001374353.1(GLI2):c.643+197G>A rs13010895 0.77601
NM_001374353.1(GLI2):c.255-235C>T rs11122836 0.77434
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.1060-194A>G rs2677507 0.76795
NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn) rs12711538 0.66550
NM_001374353.1(GLI2):c.1632+287C>T rs2044496 0.62468
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.1633-204A>G rs3820719 0.61307
NM_001374353.1(GLI2):c.1633-236C>T rs3820720 0.61191
NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser) rs3738880 0.61025
NM_001374353.1(GLI2):c.458-92C>T rs10175446 0.55214
NM_001374353.1(GLI2):c.1633-285G>A rs280198 0.28234
NM_001374353.1(GLI2):c.1468-272_1468-271del rs10595005 0.26290
NM_001374353.1(GLI2):c.255-223C>T rs60640022 0.10953
NM_001374353.1(GLI2):c.644-245G>A rs17005538 0.09219
NM_001374353.1(GLI2):c.254+211G>A rs77162783 0.05733
NM_001374353.1(GLI2):c.254+175A>G rs78356771 0.05726
NM_001374353.1(GLI2):c.-30-117A>G rs7569576 0.05176
NM_001374353.1(GLI2):c.1183-126C>T rs72957217 0.05034
NM_001374353.1(GLI2):c.2889C>T (p.Ser963=) rs146811565 0.04735
NM_001374353.1(GLI2):c.845+291T>G rs13387979 0.03805
NM_001374353.1(GLI2):c.644-139A>C rs13396540 0.03802
NM_001374353.1(GLI2):c.254+66C>T rs34273903 0.03099
NM_001374353.1(GLI2):c.1317+25C>T rs116523674 0.03000
NM_001374353.1(GLI2):c.1906-158T>C rs6736968 0.03000
NM_001374353.1(GLI2):c.3831G>A (p.Thr1277=) rs115052795 0.02871
NM_001374353.1(GLI2):c.2242+270A>G rs11901895 0.02868
NM_001374353.1(GLI2):c.2997C>T (p.Asp999=) rs140479803 0.02616
NM_001374353.1(GLI2):c.-30-214A>C rs73952457 0.02505
NM_001374353.1(GLI2):c.1893C>T (p.Thr631=) rs13008360 0.02306
NM_001374353.1(GLI2):c.1060-22T>C rs114460642 0.01929
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.1468-312A>G rs17005568 0.01640
NM_001374353.1(GLI2):c.963C>G (p.Pro321=) rs149894186 0.01440
NM_001374353.1(GLI2):c.-30-311T>C rs141091221 0.01330
NM_001374353.1(GLI2):c.457+99C>T rs141008321 0.01282
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.255-202del rs142192727 0.00911
NM_001374353.1(GLI2):c.-7G>A rs112131051 0.00890
NM_001374353.1(GLI2):c.2243-303A>C rs370931306 0.00503
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.148+143G>A rs61528515 0.00427
NM_001374353.1(GLI2):c.2967C>T (p.Gly989=) rs373880077 0.00285
NM_001374353.1(GLI2):c.803C>T (p.Ala268Val) rs146992756 0.00254
NM_001374353.1(GLI2):c.3477G>T (p.Gln1159His) rs139686081 0.00181
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.607G>A (p.Ala203Thr) rs147044066 0.00088
NM_001374353.1(GLI2):c.254+32C>T rs183122114 0.00068
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His) rs149091975 0.00053
NM_001374353.1(GLI2):c.598G>A (p.Ala200Thr) rs111840592 0.00037
NM_001374353.1(GLI2):c.88A>C (p.Lys30Gln) rs201053024 0.00009
NM_001374353.1(GLI2):c.676C>T (p.Arg226Cys) rs758273853 0.00006
NM_001374353.1(GLI2):c.2132G>A (p.Arg711Gln) rs368549881 0.00004
NM_001374353.1(GLI2):c.4571C>A (p.Ser1524Tyr) rs199887024 0.00004
NM_001374353.1(GLI2):c.667G>A (p.Val223Met) rs1293201291 0.00004
NM_001374353.1(GLI2):c.4299G>T (p.Gln1433His) rs201523549 0.00003
NM_001374353.1(GLI2):c.661C>T (p.Pro221Ser) rs771675078 0.00002
NM_001374353.1(GLI2):c.1138G>A (p.Glu380Lys) rs374155310 0.00001
NM_001374353.1(GLI2):c.1153C>T (p.Arg385Trp) rs137925421 0.00001
NM_001374353.1(GLI2):c.1406C>T (p.Ala469Val) rs767030770 0.00001
NM_001374353.1(GLI2):c.1467G>A (p.Thr489=) rs1016718367 0.00001
NM_001374353.1(GLI2):c.152C>G (p.Pro51Arg) rs780172791 0.00001
NM_001374353.1(GLI2):c.2365C>T (p.Arg789Cys) rs769667439 0.00001
NM_001374353.1(GLI2):c.2948C>T (p.Pro983Leu) rs1348680961 0.00001
NM_001374353.1(GLI2):c.2957A>C (p.Asp986Ala) rs930268229 0.00001
NM_001374353.1(GLI2):c.4294G>T (p.Gly1432Cys) rs746213496 0.00001
NM_001374353.1(GLI2):c.590G>A (p.Ser197Asn) rs556019545 0.00001
NM_001374353.1(GLI2):c.691C>T (p.Arg231Trp) rs781430951 0.00001
NM_001374353.1(GLI2):c.692G>A (p.Arg231Gln) rs756527906 0.00001
GRCh37/hg19 2q14.2(chr2:121635607-121732989)x3
NM_001374353.1(GLI2):c.-30-97G>T rs138766706
NM_001374353.1(GLI2):c.1046G>A (p.Ser349Asn)
NM_001374353.1(GLI2):c.1166C>A (p.Pro389His)
NM_001374353.1(GLI2):c.1182+292G>A rs2592589
NM_001374353.1(GLI2):c.1182+292G>C rs2592589
NM_001374353.1(GLI2):c.1183-195GT[11] rs3043526
NM_001374353.1(GLI2):c.1201A>G (p.Lys401Glu) rs2105036408
NM_001374353.1(GLI2):c.1218G>C (p.Arg406Ser) rs267598854
NM_001374353.1(GLI2):c.1244_1246delinsAGT (p.Val415_Val416delinsGluPhe)
NM_001374353.1(GLI2):c.1370G>A (p.Trp457Ter) rs1553476382
NM_001374353.1(GLI2):c.1373A>G (p.Gln458Arg) rs1682566489
NM_001374353.1(GLI2):c.1384C>T (p.Arg462Trp) rs121917708
NM_001374353.1(GLI2):c.1456_1457delinsTT (p.His486Phe) rs2105051287
NM_001374353.1(GLI2):c.1468-200C>T
NM_001374353.1(GLI2):c.148+194_148+196dup rs58254611
NM_001374353.1(GLI2):c.1490A>C (p.Tyr497Ser) rs1553477146
NM_001374353.1(GLI2):c.1496G>A (p.Arg499His) rs1553477151
NM_001374353.1(GLI2):c.1505A>G (p.Asn502Ser) rs2105064232
NM_001374353.1(GLI2):c.1522C>T (p.Arg508Trp) rs2105064291
NM_001374353.1(GLI2):c.1523G>A (p.Arg508Gln)
NM_001374353.1(GLI2):c.1588G>A (p.Ala530Thr)
NM_001374353.1(GLI2):c.1597C>T (p.Arg533Cys)
NM_001374353.1(GLI2):c.162_163del (p.Leu55fs) rs778975466
NM_001374353.1(GLI2):c.1738A>G (p.Lys580Glu)
NM_001374353.1(GLI2):c.1771C>T (p.Pro591Ser) rs779910601
NM_001374353.1(GLI2):c.1890G>C (p.Lys630Asn) rs565184396
NM_001374353.1(GLI2):c.193G>A (p.Asp65Asn)
NM_001374353.1(GLI2):c.2117T>C (p.Met706Thr)
NM_001374353.1(GLI2):c.2152_2154del (p.Glu718del) rs1682985936
NM_001374353.1(GLI2):c.2214C>A (p.Asn738Lys) rs904385464
NM_001374353.1(GLI2):c.2243-6C>A rs1553478404
NM_001374353.1(GLI2):c.2291_2317del (p.Gly764_Ser772del) rs2105084733
NM_001374353.1(GLI2):c.2404G>A (p.Val802Met) rs985023327
NM_001374353.1(GLI2):c.2449C>T (p.Arg817Cys)
NM_001374353.1(GLI2):c.255-156A>G rs10864866
NM_001374353.1(GLI2):c.255-230G>A rs60613333
NM_001374353.1(GLI2):c.2569G>C (p.Gly857Arg)
NM_001374353.1(GLI2):c.2600C>T (p.Ala867Val) rs1485605591
NM_001374353.1(GLI2):c.2678G>T (p.Arg893Leu)
NM_001374353.1(GLI2):c.2765G>T (p.Arg922Leu)
NM_001374353.1(GLI2):c.2816C>T (p.Ala939Val)
NM_001374353.1(GLI2):c.2894C>A (p.Pro965Gln)
NM_001374353.1(GLI2):c.2934del (p.Gly979fs) rs2105089188
NM_001374353.1(GLI2):c.2995G>A (p.Asp999Asn)
NM_001374353.1(GLI2):c.299T>G (p.Leu100Trp)
NM_001374353.1(GLI2):c.3032C>T (p.Pro1011Leu)
NM_001374353.1(GLI2):c.3044G>A (p.Ser1015Asn)
NM_001374353.1(GLI2):c.3092G>T (p.Gly1031Val) rs1553479051
NM_001374353.1(GLI2):c.3116C>G (p.Pro1039Arg)
NM_001374353.1(GLI2):c.3124_3125delinsCT (p.Asp1042Leu) rs1553479074
NM_001374353.1(GLI2):c.3329G>A (p.Cys1110Tyr) rs1683160288
NM_001374353.1(GLI2):c.332G>A (p.Gly111Glu)
NM_001374353.1(GLI2):c.3370A>G (p.Asn1124Asp)
NM_001374353.1(GLI2):c.3379G>A (p.Val1127Met) rs1683163107
NM_001374353.1(GLI2):c.3414C>G (p.Asp1138Glu)
NM_001374353.1(GLI2):c.3551C>G (p.Thr1184Arg)
NM_001374353.1(GLI2):c.355C>G (p.His119Asp)
NM_001374353.1(GLI2):c.355dup (p.His119fs) rs1573660204
NM_001374353.1(GLI2):c.3677C>T (p.Pro1226Leu) rs2105093808
NM_001374353.1(GLI2):c.3679C>T (p.His1227Tyr)
NM_001374353.1(GLI2):c.3877G>T (p.Ala1293Ser) rs2105094880
NM_001374353.1(GLI2):c.403A>G (p.Ser135Gly)
NM_001374353.1(GLI2):c.4184C>G (p.Thr1395Arg)
NM_001374353.1(GLI2):c.41A>G (p.Glu14Gly) rs1684444560
NM_001374353.1(GLI2):c.4289A>G (p.Tyr1430Cys)
NM_001374353.1(GLI2):c.4307T>G (p.Met1436Arg)
NM_001374353.1(GLI2):c.4468G>T (p.Ala1490Ser)
NM_001374353.1(GLI2):c.458-64del rs869202442
NM_001374353.1(GLI2):c.458-65_458-64del rs869202442
NM_001374353.1(GLI2):c.458-92del rs757592387
NM_001374353.1(GLI2):c.4591C>T (p.Arg1531Ter) rs1237907959
NM_001374353.1(GLI2):c.643+16C>G rs6718382
NM_001374353.1(GLI2):c.649C>G (p.Arg217Gly) rs149819397
NM_001374353.1(GLI2):c.653T>G (p.Phe218Cys)
NM_001374353.1(GLI2):c.664C>G (p.Arg222Gly) rs763688196
NM_001374353.1(GLI2):c.665G>A (p.Arg222Gln) rs1213874652
NM_001374353.1(GLI2):c.686G>T (p.Arg229Leu)
NM_001374353.1(GLI2):c.78del (p.Asp27fs) rs1553449159
NM_001374353.1(GLI2):c.833C>G (p.Ala278Gly)
NM_001374353.1(GLI2):c.836G>T (p.Gly279Val)
NM_001374353.1(GLI2):c.83_96del (p.Pro28fs)
NM_001374353.1(GLI2):c.845+1G>C rs1064793857
NM_001374353.1(GLI2):c.845+6C>T rs1057523120
NM_001374353.1(GLI2):c.846-23T>A
NM_001374353.1(GLI2):c.871A>G (p.Ile291Val)
NM_001374353.1(GLI2):c.980A>G (p.Gln327Arg)

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