ClinVar Miner

List of variants in gene GLI2 reported as likely benign for dysostosis

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 213
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HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_001374353.1(GLI2):c.2865T>A (p.Pro955=) rs747247646 0.00176
NM_001374353.1(GLI2):c.2437T>C (p.Phe813Leu) rs556743028 0.00106
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.4030G>T (p.Val1344Leu) rs145939921 0.00081
NM_001374353.1(GLI2):c.4073T>C (p.Leu1358Pro) rs371219507 0.00074
NM_001374353.1(GLI2):c.4577G>A (p.Arg1526His) rs138987487 0.00059
NM_001374353.1(GLI2):c.148+5T>C rs201273354 0.00053
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His) rs149091975 0.00053
NM_001374353.1(GLI2):c.2804G>C (p.Gly935Ala) rs970835131 0.00046
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.3575G>T (p.Ser1192Ile) rs138909736 0.00037
NM_001374353.1(GLI2):c.598G>A (p.Ala200Thr) rs111840592 0.00037
NM_001374353.1(GLI2):c.1857C>T (p.Ala619=) rs200619416 0.00036
NM_001374353.1(GLI2):c.2271T>C (p.Ser757=) rs553560055 0.00036
NM_001374353.1(GLI2):c.4530T>C (p.Gly1510=) rs144700510 0.00036
NM_001374353.1(GLI2):c.305G>A (p.Arg102Gln) rs148442092 0.00035
NM_001374353.1(GLI2):c.3309C>T (p.Ser1103=) rs145751002 0.00035
NM_001374353.1(GLI2):c.2251C>T (p.Leu751=) rs200831069 0.00033
NM_001374353.1(GLI2):c.3572G>A (p.Arg1191His) rs200537256 0.00029
NM_001374353.1(GLI2):c.2013C>T (p.Pro671=) rs147314921 0.00024
NM_001374353.1(GLI2):c.4473C>T (p.Pro1491=) rs139840265 0.00024
NM_001374353.1(GLI2):c.243C>T (p.His81=) rs147403076 0.00023
NM_001374353.1(GLI2):c.1106T>C (p.Val369Ala) rs377454502 0.00021
NM_001374353.1(GLI2):c.2007G>A (p.Thr669=) rs138592005 0.00021
NM_001374353.1(GLI2):c.2502C>T (p.Ser834=) rs765818439 0.00020
NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=) rs200499325 0.00020
NM_001374353.1(GLI2):c.2855C>G (p.Ala952Gly) rs1260890491 0.00019
NM_001374353.1(GLI2):c.637G>A (p.Val213Met) rs202139687 0.00019
NM_001374353.1(GLI2):c.132G>A (p.Ala44=) rs145778937 0.00017
NM_001374353.1(GLI2):c.189G>A (p.Pro63=) rs200471311 0.00016
NM_001374353.1(GLI2):c.845+10G>A rs199673018 0.00015
NM_001374353.1(GLI2):c.1905+7G>A rs372198430 0.00014
NM_001374353.1(GLI2):c.9G>A (p.Thr3=) rs199524680 0.00014
NM_001374353.1(GLI2):c.1497C>A (p.Arg499=) rs542656225 0.00013
NM_001374353.1(GLI2):c.4014A>G (p.Gln1338=) rs374113689 0.00013
NM_001374353.1(GLI2):c.4293C>T (p.Tyr1431=) rs374166743 0.00013
NM_001374353.1(GLI2):c.563C>T (p.Ala188Val) rs147419287 0.00013
NM_001374353.1(GLI2):c.2886G>A (p.Leu962=) rs777165274 0.00012
NM_001374353.1(GLI2):c.1587C>T (p.Asn529=) rs767400136 0.00011
NM_001374353.1(GLI2):c.2458G>A (p.Glu820Lys) rs193090538 0.00011
NM_001374353.1(GLI2):c.1760A>C (p.His587Pro) rs756664261 0.00010
NM_001374353.1(GLI2):c.845+14G>A rs370294059 0.00010
NM_001374353.1(GLI2):c.1577C>G (p.Ala526Gly) rs201279367 0.00009
NM_001374353.1(GLI2):c.252C>T (p.His84=) rs201412339 0.00009
NM_001374353.1(GLI2):c.4678G>A (p.Glu1560Lys) rs770936696 0.00009
NM_001374353.1(GLI2):c.78C>T (p.Pro26=) rs373668718 0.00009
NM_001374353.1(GLI2):c.2987C>G (p.Pro996Arg) rs780303555 0.00008
NM_001374353.1(GLI2):c.1875C>T (p.His625=) rs372341303 0.00007
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) rs200076785 0.00006
NM_001374353.1(GLI2):c.672G>A (p.Thr224=) rs147049153 0.00006
NM_001374353.1(GLI2):c.1701T>C (p.His567=) rs370382506 0.00005
NM_001374353.1(GLI2):c.2598G>A (p.Pro866=) rs772224406 0.00005
NM_001374353.1(GLI2):c.3405C>T (p.Gly1135=) rs753450963 0.00005
NM_001374353.1(GLI2):c.1095C>T (p.Thr365=) rs374705620 0.00004
NM_001374353.1(GLI2):c.1158G>A (p.Pro386=) rs141647925 0.00004
NM_001374353.1(GLI2):c.1293C>T (p.Tyr431=) rs768259857 0.00004
NM_001374353.1(GLI2):c.1633-4C>G rs377701321 0.00004
NM_001374353.1(GLI2):c.1815T>C (p.Pro605=) rs146766721 0.00004
NM_001374353.1(GLI2):c.1906-11G>A rs769187484 0.00004
NM_001374353.1(GLI2):c.2061C>T (p.Ala687=) rs374564316 0.00004
NM_001374353.1(GLI2):c.2089G>A (p.Ala697Thr) rs553780090 0.00004
NM_001374353.1(GLI2):c.2667G>C (p.Pro889=) rs767130064 0.00004
NM_001374353.1(GLI2):c.3489T>C (p.Phe1163=) rs766031476 0.00004
NM_001374353.1(GLI2):c.402C>T (p.His134=) rs200675247 0.00004
NM_001374353.1(GLI2):c.4571C>A (p.Ser1524Tyr) rs199887024 0.00004
NM_001374353.1(GLI2):c.495C>T (p.Gly165=) rs193062450 0.00004
NM_001374353.1(GLI2):c.606C>T (p.Ser202=) rs146181686 0.00004
NM_001374353.1(GLI2):c.846-18G>A rs765320072 0.00004
NM_001374353.1(GLI2):c.131C>T (p.Ala44Val) rs200095340 0.00003
NM_001374353.1(GLI2):c.1633-5C>T rs551256208 0.00003
NM_001374353.1(GLI2):c.1755C>T (p.Asp585=) rs139202322 0.00003
NM_001374353.1(GLI2):c.1890G>A (p.Lys630=) rs565184396 0.00003
NM_001374353.1(GLI2):c.2486C>T (p.Pro829Leu) rs761090665 0.00003
NM_001374353.1(GLI2):c.3562C>T (p.Leu1188=) rs369264013 0.00003
NM_001374353.1(GLI2):c.4299G>T (p.Gln1433His) rs201523549 0.00003
NM_001374353.1(GLI2):c.4440C>T (p.Ser1480=) rs1403391073 0.00003
NM_001374353.1(GLI2):c.1481C>T (p.Ser494Leu) rs372925840 0.00002
NM_001374353.1(GLI2):c.1632+10C>T rs769094105 0.00002
NM_001374353.1(GLI2):c.2571C>G (p.Gly857=) rs757164059 0.00002
NM_001374353.1(GLI2):c.30C>T (p.Ser10=) rs145169912 0.00002
NM_001374353.1(GLI2):c.4242G>A (p.Pro1414=) rs771337922 0.00002
NM_001374353.1(GLI2):c.120G>A (p.Ala40=) rs202130125 0.00001
NM_001374353.1(GLI2):c.123A>G (p.Ala41=) rs200321870 0.00001
NM_001374353.1(GLI2):c.1519C>T (p.Leu507=) rs1205997619 0.00001
NM_001374353.1(GLI2):c.2062G>A (p.Asp688Asn) rs751513015 0.00001
NM_001374353.1(GLI2):c.2208G>A (p.Thr736=) rs372206751 0.00001
NM_001374353.1(GLI2):c.2484C>T (p.Arg828=) rs1190519823 0.00001
NM_001374353.1(GLI2):c.2884C>T (p.Leu962=) rs1345329176 0.00001
NM_001374353.1(GLI2):c.3009C>T (p.Ala1003=) rs770186740 0.00001
NM_001374353.1(GLI2):c.3051C>T (p.Asn1017=) rs751735227 0.00001
NM_001374353.1(GLI2):c.3066C>T (p.Ala1022=) rs1472557461 0.00001
NM_001374353.1(GLI2):c.4350G>A (p.Gln1450=) rs1683233094 0.00001
NM_001374353.1(GLI2):c.595G>A (p.Gly199Ser) rs542892514 0.00001
NM_001374353.1(GLI2):c.819C>T (p.Tyr273=) rs527693910 0.00001
NM_001374353.1(GLI2):c.879C>T (p.Pro293=) rs1318325355 0.00001
NM_001374353.1(GLI2):c.1059+20A>G
NM_001374353.1(GLI2):c.1059+8G>A
NM_001374353.1(GLI2):c.1060-12A>G
NM_001374353.1(GLI2):c.1060-18C>T
NM_001374353.1(GLI2):c.1083C>T (p.Ala361=)
NM_001374353.1(GLI2):c.1137C>T (p.Thr379=)
NM_001374353.1(GLI2):c.1179G>A (p.Thr393=)
NM_001374353.1(GLI2):c.1183-4C>T rs1682382173
NM_001374353.1(GLI2):c.1183-65C>T
NM_001374353.1(GLI2):c.1183-68C>T
NM_001374353.1(GLI2):c.1318-14T>C
NM_001374353.1(GLI2):c.1341C>T (p.His447=)
NM_001374353.1(GLI2):c.135A>G (p.Val45=)
NM_001374353.1(GLI2):c.1428C>T (p.His476=)
NM_001374353.1(GLI2):c.1467+9C>T
NM_001374353.1(GLI2):c.1468-12G>A
NM_001374353.1(GLI2):c.1468-13C>T
NM_001374353.1(GLI2):c.1471G>A (p.Glu491Lys)
NM_001374353.1(GLI2):c.148+12T>A rs2104697160
NM_001374353.1(GLI2):c.148+20C>T
NM_001374353.1(GLI2):c.1560C>T (p.His520=)
NM_001374353.1(GLI2):c.1584C>G (p.Ser528=) rs2105064545
NM_001374353.1(GLI2):c.1599C>T (p.Arg533=)
NM_001374353.1(GLI2):c.1633-14G>T
NM_001374353.1(GLI2):c.1731C>T (p.His577=)
NM_001374353.1(GLI2):c.1737C>G (p.Thr579=)
NM_001374353.1(GLI2):c.1833C>T (p.Thr611=)
NM_001374353.1(GLI2):c.1899C>T (p.Ser633=)
NM_001374353.1(GLI2):c.1902C>T (p.Ser634=)
NM_001374353.1(GLI2):c.1905+12T>C
NM_001374353.1(GLI2):c.1906-12C>T
NM_001374353.1(GLI2):c.1923C>G (p.Pro641=)
NM_001374353.1(GLI2):c.1929C>T (p.Ala643=) rs1682970189
NM_001374353.1(GLI2):c.1932G>A (p.Gln644=)
NM_001374353.1(GLI2):c.2001G>A (p.Pro667=)
NM_001374353.1(GLI2):c.2064C>T (p.Asp688=)
NM_001374353.1(GLI2):c.2196G>A (p.Pro732=)
NM_001374353.1(GLI2):c.2209C>A (p.Arg737=) rs138932004
NM_001374353.1(GLI2):c.2242+18G>T
NM_001374353.1(GLI2):c.2403C>T (p.Thr801=) rs1440441101
NM_001374353.1(GLI2):c.2466G>A (p.Ser822=)
NM_001374353.1(GLI2):c.2481C>G (p.Gly827=)
NM_001374353.1(GLI2):c.253G>A (p.Gly85Arg)
NM_001374353.1(GLI2):c.254+16T>C
NM_001374353.1(GLI2):c.2577C>T (p.Ser859=)
NM_001374353.1(GLI2):c.2580G>A (p.Gly860=)
NM_001374353.1(GLI2):c.2589C>A (p.Asn863Lys)
NM_001374353.1(GLI2):c.258C>T (p.Pro86=)
NM_001374353.1(GLI2):c.2617C>A (p.Arg873=)
NM_001374353.1(GLI2):c.2631G>C (p.Ala877=)
NM_001374353.1(GLI2):c.2652G>T (p.Pro884=) rs926908365
NM_001374353.1(GLI2):c.2694C>G (p.Thr898=)
NM_001374353.1(GLI2):c.2715G>T (p.Ala905=)
NM_001374353.1(GLI2):c.2748C>T (p.Arg916=)
NM_001374353.1(GLI2):c.2751A>C (p.Pro917=)
NM_001374353.1(GLI2):c.2877C>T (p.Pro959=)
NM_001374353.1(GLI2):c.2883C>G (p.Ala961=)
NM_001374353.1(GLI2):c.2949C>T (p.Pro983=)
NM_001374353.1(GLI2):c.2982C>T (p.Ser994=)
NM_001374353.1(GLI2):c.3015C>T (p.Gly1005=)
NM_001374353.1(GLI2):c.3072G>C (p.Ala1024=)
NM_001374353.1(GLI2):c.3084C>T (p.Asp1028=)
NM_001374353.1(GLI2):c.3090G>A (p.Ala1030=) rs749578390
NM_001374353.1(GLI2):c.3117G>A (p.Pro1039=)
NM_001374353.1(GLI2):c.3195C>T (p.Thr1065=)
NM_001374353.1(GLI2):c.3213G>A (p.Thr1071=)
NM_001374353.1(GLI2):c.321G>T (p.Pro107=)
NM_001374353.1(GLI2):c.3255G>A (p.Pro1085=)
NM_001374353.1(GLI2):c.3418C>T (p.Leu1140=) rs141988240
NM_001374353.1(GLI2):c.3423C>A (p.Ala1141=)
NM_001374353.1(GLI2):c.3465G>A (p.Ala1155=) rs141356812
NM_001374353.1(GLI2):c.3468G>T (p.Val1156=)
NM_001374353.1(GLI2):c.3501G>A (p.Pro1167=)
NM_001374353.1(GLI2):c.3504C>T (p.Gly1168=)
NM_001374353.1(GLI2):c.3513G>A (p.Pro1171=)
NM_001374353.1(GLI2):c.3585C>T (p.Pro1195=)
NM_001374353.1(GLI2):c.3603G>A (p.Arg1201=) rs2105093446
NM_001374353.1(GLI2):c.3612C>T (p.Tyr1204=)
NM_001374353.1(GLI2):c.3624G>T (p.Leu1208=)
NM_001374353.1(GLI2):c.3699C>T (p.Val1233=) rs1195795024
NM_001374353.1(GLI2):c.3732G>T (p.Gly1244=)
NM_001374353.1(GLI2):c.3841C>T (p.Arg1281Cys)
NM_001374353.1(GLI2):c.3879T>C (p.Ala1293=)
NM_001374353.1(GLI2):c.3951G>A (p.Gln1317=)
NM_001374353.1(GLI2):c.4023G>A (p.Pro1341=)
NM_001374353.1(GLI2):c.4074C>T (p.Leu1358=)
NM_001374353.1(GLI2):c.4110T>G (p.Arg1370=)
NM_001374353.1(GLI2):c.4135G>A (p.Ala1379Thr)
NM_001374353.1(GLI2):c.4254C>T (p.Asp1418=)
NM_001374353.1(GLI2):c.4258G>A (p.Gly1420Ser) rs149163880
NM_001374353.1(GLI2):c.4269G>A (p.Pro1423=)
NM_001374353.1(GLI2):c.4327C>T (p.Leu1443=)
NM_001374353.1(GLI2):c.4338C>T (p.Leu1446=)
NM_001374353.1(GLI2):c.4404C>G (p.Pro1468=)
NM_001374353.1(GLI2):c.4509T>C (p.Asp1503=)
NM_001374353.1(GLI2):c.4515G>A (p.Ser1505=)
NM_001374353.1(GLI2):c.4560C>A (p.Leu1520=) rs1335405295
NM_001374353.1(GLI2):c.4560C>T (p.Leu1520=)
NM_001374353.1(GLI2):c.4620C>T (p.Pro1540=)
NM_001374353.1(GLI2):c.4644C>T (p.Val1548=)
NM_001374353.1(GLI2):c.564G>A (p.Ala188=)
NM_001374353.1(GLI2):c.594G>T (p.Gly198=)
NM_001374353.1(GLI2):c.621C>T (p.His207=)
NM_001374353.1(GLI2):c.643+15_643+16delinsTG rs2104965814
NM_001374353.1(GLI2):c.643+16C>A
NM_001374353.1(GLI2):c.644-11C>T
NM_001374353.1(GLI2):c.654C>T (p.Phe218=)
NM_001374353.1(GLI2):c.693G>A (p.Arg231=)
NM_001374353.1(GLI2):c.753C>T (p.Thr251=)
NM_001374353.1(GLI2):c.75C>T (p.Phe25=)
NM_001374353.1(GLI2):c.804G>A (p.Ala268=)
NM_001374353.1(GLI2):c.845+17A>G
NM_001374353.1(GLI2):c.861C>T (p.Phe287=) rs2105019550
NM_001374353.1(GLI2):c.945C>T (p.Pro315=)
NM_001374353.1(GLI2):c.996C>T (p.Thr332=)

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