ClinVar Miner

List of variants reported as likely benign for Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 280
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser) rs150907867 0.00104
NM_000168.6(GLI3):c.2006C>T (p.Thr669Ile) rs139108417 0.00061
NM_000168.6(GLI3):c.1959G>A (p.Pro653=) rs148226583 0.00046
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu) rs146582871 0.00043
NM_000168.6(GLI3):c.4654A>C (p.Met1552Leu) rs151254859 0.00039
NM_000168.6(GLI3):c.3984C>T (p.Leu1328=) rs148940743 0.00038
NM_000168.6(GLI3):c.211G>A (p.Val71Ile) rs143843875 0.00031
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457 0.00027
NM_000168.6(GLI3):c.3987C>T (p.Gly1329=) rs145859702 0.00027
NM_000168.6(GLI3):c.315C>T (p.Arg105=) rs140872736 0.00026
NM_000168.6(GLI3):c.124+10A>G rs112576935 0.00025
NM_000168.6(GLI3):c.30C>T (p.Thr10=) rs148154157 0.00023
NM_000168.6(GLI3):c.1028+3A>T rs368499795 0.00021
NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=) rs148043302 0.00019
NM_000168.6(GLI3):c.565C>T (p.Pro189Ser) rs201940674 0.00018
NM_000168.6(GLI3):c.567C>T (p.Pro189=) rs371984494 0.00018
NM_000168.6(GLI3):c.954C>T (p.Val318=) rs142968143 0.00018
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) rs376725882 0.00016
NM_000168.6(GLI3):c.2966G>T (p.Arg989Leu) rs548918938 0.00016
NM_000168.6(GLI3):c.636G>A (p.Ser212=) rs369422937 0.00016
NM_000168.6(GLI3):c.1222G>A (p.Gly408Ser) rs200411081 0.00014
NM_000168.6(GLI3):c.4508A>T (p.Gln1503Leu) rs1359183911 0.00014
NM_000168.6(GLI3):c.367+20G>A rs371365628 0.00011
NM_000168.6(GLI3):c.411T>C (p.Ile137=) rs200203051 0.00011
NM_000168.6(GLI3):c.2200G>A (p.Asp734Asn) rs140479817 0.00010
NM_000168.6(GLI3):c.3903A>G (p.Pro1301=) rs758771584 0.00010
NM_000168.6(GLI3):c.3079C>T (p.Leu1027Phe) rs746534141 0.00009
NM_000168.6(GLI3):c.4533C>T (p.Asp1511=) rs145513625 0.00009
NM_000168.6(GLI3):c.1182A>G (p.Pro394=) rs748606221 0.00008
NM_000168.6(GLI3):c.4382C>T (p.Ser1461Phe) rs149543947 0.00008
NM_000168.6(GLI3):c.4649T>C (p.Leu1550Pro) rs756335435 0.00008
NM_000168.6(GLI3):c.1740C>T (p.His580=) rs146154710 0.00007
NM_000168.6(GLI3):c.2735G>A (p.Ser912Asn) rs757735624 0.00007
NM_000168.6(GLI3):c.4524C>T (p.Ala1508=) rs201112421 0.00007
NM_000168.6(GLI3):c.528C>T (p.Ile176=) rs539622820 0.00007
NM_000168.6(GLI3):c.223C>G (p.Pro75Ala) rs369237977 0.00006
NM_000168.6(GLI3):c.240C>T (p.Asp80=) rs149400571 0.00006
NM_000168.6(GLI3):c.4089C>T (p.Cys1363=) rs202059951 0.00006
NM_000168.6(GLI3):c.4427A>T (p.Asn1476Ile) rs138100963 0.00006
NM_000168.6(GLI3):c.2174A>C (p.Asn725Thr) rs749807129 0.00005
NM_000168.6(GLI3):c.2184C>T (p.Leu728=) rs149724824 0.00005
NM_000168.6(GLI3):c.2361T>C (p.Asn787=) rs10259802 0.00005
NM_000168.6(GLI3):c.3162C>T (p.Gly1054=) rs554127075 0.00005
NM_000168.6(GLI3):c.3351G>A (p.Pro1117=) rs368061722 0.00005
NM_000168.6(GLI3):c.3669C>T (p.Tyr1223=) rs773687251 0.00005
NM_000168.6(GLI3):c.480C>T (p.Ser160=) rs148660482 0.00005
NM_000168.6(GLI3):c.1325A>G (p.Asp442Gly) rs749073077 0.00004
NM_000168.6(GLI3):c.1536G>A (p.Glu512=) rs764176144 0.00004
NM_000168.6(GLI3):c.1909C>T (p.His637Tyr) rs371617666 0.00004
NM_000168.6(GLI3):c.2104-8C>T rs769769944 0.00004
NM_000168.6(GLI3):c.2706C>T (p.Ala902=) rs779103816 0.00004
NM_000168.6(GLI3):c.3540G>A (p.Gly1180=) rs143551701 0.00004
NM_000168.6(GLI3):c.4104C>T (p.His1368=) rs780530149 0.00004
NM_000168.6(GLI3):c.4640T>A (p.Phe1547Tyr) rs373789617 0.00004
NM_000168.6(GLI3):c.4740A>G (p.Gln1580=) rs375653915 0.00004
NM_000168.6(GLI3):c.563C>A (p.Ser188Tyr) rs369926331 0.00004
NM_000168.6(GLI3):c.678T>C (p.Asp226=) rs756130174 0.00004
NM_000168.6(GLI3):c.1320T>C (p.Asp440=) rs750416636 0.00003
NM_000168.6(GLI3):c.245G>A (p.Arg82Lys) rs754143860 0.00003
NM_000168.6(GLI3):c.313C>T (p.Arg105Cys) rs555794809 0.00003
NM_000168.6(GLI3):c.3149C>T (p.Thr1050Met) rs146556791 0.00003
NM_000168.6(GLI3):c.3624G>A (p.Gly1208=) rs748737328 0.00003
NM_000168.6(GLI3):c.368-7T>G rs74376818 0.00003
NM_000168.6(GLI3):c.3772C>G (p.Leu1258Val) rs754908186 0.00003
NM_000168.6(GLI3):c.3804C>T (p.Leu1268=) rs373193430 0.00003
NM_000168.6(GLI3):c.434G>A (p.Arg145His) rs768622457 0.00003
NM_000168.6(GLI3):c.633A>G (p.Pro211=) rs769152784 0.00003
NM_000168.6(GLI3):c.659G>A (p.Arg220His) rs747805984 0.00003
NM_000168.6(GLI3):c.1474G>A (p.Asp492Asn) rs886320788 0.00002
NM_000168.6(GLI3):c.1620C>T (p.His540=) rs1334320179 0.00002
NM_000168.6(GLI3):c.2409G>A (p.Ala803=) rs138416748 0.00002
NM_000168.6(GLI3):c.2540G>A (p.Arg847Lys) rs143406263 0.00002
NM_000168.6(GLI3):c.320C>T (p.Thr107Met) rs769350082 0.00002
NM_000168.6(GLI3):c.3591G>A (p.Met1197Ile) rs1374541235 0.00002
NM_000168.6(GLI3):c.3823G>A (p.Gly1275Arg) rs756156901 0.00002
NM_000168.6(GLI3):c.3864G>A (p.Gly1288=) rs369272004 0.00002
NM_000168.6(GLI3):c.4560G>A (p.Ser1520=) rs79625212 0.00002
NM_000168.6(GLI3):c.4629G>A (p.Ala1543=) rs975131125 0.00002
NM_000168.6(GLI3):c.658C>T (p.Arg220Cys) rs758039889 0.00002
NM_000168.6(GLI3):c.935C>T (p.Thr312Met) rs772929930 0.00002
NM_000168.6(GLI3):c.1287G>A (p.Pro429=) rs760816574 0.00001
NM_000168.6(GLI3):c.1346G>A (p.Arg449Gln) rs745809543 0.00001
NM_000168.6(GLI3):c.1380T>C (p.Leu460=) rs748089575 0.00001
NM_000168.6(GLI3):c.1433A>G (p.Tyr478Cys) rs1312485546 0.00001
NM_000168.6(GLI3):c.1779C>T (p.Arg593=) rs371786696 0.00001
NM_000168.6(GLI3):c.1845T>C (p.Thr615=) rs373687877 0.00001
NM_000168.6(GLI3):c.2004G>A (p.Pro668=) rs867192725 0.00001
NM_000168.6(GLI3):c.2233G>A (p.Asp745Asn) rs142249104 0.00001
NM_000168.6(GLI3):c.233C>T (p.Ser78Leu) rs777937822 0.00001
NM_000168.6(GLI3):c.2431+8C>A rs368025121 0.00001
NM_000168.6(GLI3):c.246G>A (p.Arg82=) rs890167751 0.00001
NM_000168.6(GLI3):c.252A>G (p.Ser84=) rs1051536881 0.00001
NM_000168.6(GLI3):c.2623C>T (p.Arg875Cys) rs755227076 0.00001
NM_000168.6(GLI3):c.2685C>T (p.Tyr895=) rs772948115 0.00001
NM_000168.6(GLI3):c.2703C>T (p.Asp901=) rs1448746421 0.00001
NM_000168.6(GLI3):c.2856C>T (p.Ser952=) rs1214730213 0.00001
NM_000168.6(GLI3):c.2975T>C (p.Leu992Pro) rs1370106320 0.00001
NM_000168.6(GLI3):c.2981C>G (p.Pro994Arg) rs772285708 0.00001
NM_000168.6(GLI3):c.3054G>A (p.Leu1018=) rs1022587271 0.00001
NM_000168.6(GLI3):c.3122A>G (p.Lys1041Arg) rs747875277 0.00001
NM_000168.6(GLI3):c.3498C>T (p.Ser1166=) rs1232245839 0.00001
NM_000168.6(GLI3):c.3549C>G (p.Pro1183=) rs746224726 0.00001
NM_000168.6(GLI3):c.3557C>T (p.Pro1186Leu) rs541487979 0.00001
NM_000168.6(GLI3):c.3852C>T (p.Thr1284=) rs757478389 0.00001
NM_000168.6(GLI3):c.3899C>T (p.Ala1300Val) rs751790458 0.00001
NM_000168.6(GLI3):c.3900G>A (p.Ala1300=) rs559754489 0.00001
NM_000168.6(GLI3):c.4245C>T (p.Thr1415=) rs201470312 0.00001
NM_000168.6(GLI3):c.4369G>A (p.Ala1457Thr) rs1248816541 0.00001
NM_000168.6(GLI3):c.445G>A (p.Asp149Asn) rs960718476 0.00001
NM_000168.6(GLI3):c.4556T>C (p.Met1519Thr) rs745490483 0.00001
NM_000168.6(GLI3):c.4610G>A (p.Arg1537His) rs746798261 0.00001
NM_000168.6(GLI3):c.506C>T (p.Pro169Leu) rs1419861206 0.00001
NM_000168.6(GLI3):c.558C>T (p.Ser186=) rs769275169 0.00001
NM_000168.6(GLI3):c.612C>G (p.Ile204Met) rs760701023 0.00001
NM_000168.6(GLI3):c.613C>T (p.Arg205Cys) rs767832980 0.00001
NM_000168.6(GLI3):c.648C>T (p.Ile216=) rs886043938 0.00001
NM_000168.6(GLI3):c.681G>A (p.Ala227=) rs752998397 0.00001
NM_000168.6(GLI3):c.780C>T (p.Thr260=) rs370612767 0.00001
NM_000168.6(GLI3):c.781G>A (p.Ala261Thr) rs139274834 0.00001
NM_000168.6(GLI3):c.826+9C>T rs776625548 0.00001
NM_000168.6(GLI3):c.827-10T>C rs371456706 0.00001
NM_000168.6(GLI3):c.847A>T (p.Arg283Trp) rs746870989 0.00001
NM_000168.6(GLI3):c.901G>A (p.Asp301Asn) rs752246768 0.00001
NM_000168.6(GLI3):c.972C>T (p.Ser324=) rs1784101322 0.00001
NM_000168.6(GLI3):c.973C>T (p.Arg325Cys) rs942730954 0.00001
NM_000168.6(GLI3):c.99C>T (p.Ala33=) rs201109218 0.00001
NM_000168.6(GLI3):c.1028+12C>A
NM_000168.6(GLI3):c.1029-15A>T
NM_000168.6(GLI3):c.1029-6G>A rs748670269
NM_000168.6(GLI3):c.1029-6G>T
NM_000168.6(GLI3):c.1040G>A (p.Ser347Asn)
NM_000168.6(GLI3):c.1056C>G (p.Ser352=)
NM_000168.6(GLI3):c.1056C>T (p.Ser352=)
NM_000168.6(GLI3):c.1062C>T (p.Pro354=) rs1446107833
NM_000168.6(GLI3):c.1194G>A (p.Thr398=)
NM_000168.6(GLI3):c.1207G>A (p.Val403Ile) rs201070431
NM_000168.6(GLI3):c.1242+16C>G rs754808194
NM_000168.6(GLI3):c.1242+7G>A
NM_000168.6(GLI3):c.1289T>C (p.Met430Thr)
NM_000168.6(GLI3):c.1332C>T (p.Pro444=)
NM_000168.6(GLI3):c.1345C>T (p.Arg449Trp)
NM_000168.6(GLI3):c.1356+10_1356+11delinsAC rs2128731533
NM_000168.6(GLI3):c.1356+16C>T
NM_000168.6(GLI3):c.1356+17G>A
NM_000168.6(GLI3):c.1357-10C>G rs562653058
NM_000168.6(GLI3):c.1357-10C>T
NM_000168.6(GLI3):c.1357-12C>T rs2128730836
NM_000168.6(GLI3):c.1357-4T>C rs1583801312
NM_000168.6(GLI3):c.1357-7_1357-5del
NM_000168.6(GLI3):c.1357-9T>A rs1583801330
NM_000168.6(GLI3):c.135T>A (p.Ser45Arg)
NM_000168.6(GLI3):c.1366G>A (p.Glu456Lys)
NM_000168.6(GLI3):c.1375A>G (p.Thr459Ala)
NM_000168.6(GLI3):c.1457G>C (p.Gly486Ala)
NM_000168.6(GLI3):c.1463C>T (p.Ala488Val)
NM_000168.6(GLI3):c.1473C>G (p.Phe491Leu) rs572462647
NM_000168.6(GLI3):c.1497C>T (p.His499=) rs539144173
NM_000168.6(GLI3):c.1506T>C (p.Asn502=) rs1413686614
NM_000168.6(GLI3):c.1553T>A (p.Leu518Gln)
NM_000168.6(GLI3):c.158A>G (p.Glu53Gly)
NM_000168.6(GLI3):c.1647+11A>C
NM_000168.6(GLI3):c.1749C>T (p.Cys583=)
NM_000168.6(GLI3):c.1812+7A>T
NM_000168.6(GLI3):c.1949C>T (p.Pro650Leu)
NM_000168.6(GLI3):c.1954C>A (p.Pro652Thr)
NM_000168.6(GLI3):c.1968C>T (p.Ser656=)
NM_000168.6(GLI3):c.1973G>T (p.Ser658Ile)
NM_000168.6(GLI3):c.2000G>A (p.Arg667Gln)
NM_000168.6(GLI3):c.2044A>G (p.Thr682Ala)
NM_000168.6(GLI3):c.2046T>C (p.Thr682=)
NM_000168.6(GLI3):c.2083G>T (p.Val695Phe)
NM_000168.6(GLI3):c.2144G>A (p.Ser715Asn)
NM_000168.6(GLI3):c.2189T>G (p.Leu730Arg) rs375779498
NM_000168.6(GLI3):c.2232C>A (p.Ile744=) rs772276953
NM_000168.6(GLI3):c.2257A>G (p.Thr753Ala)
NM_000168.6(GLI3):c.2328G>A (p.Glu776=)
NM_000168.6(GLI3):c.2329C>T (p.His777Tyr)
NM_000168.6(GLI3):c.2332G>A (p.Val778Ile)
NM_000168.6(GLI3):c.235A>T (p.Ser79Cys)
NM_000168.6(GLI3):c.2382C>A (p.Asn794Lys)
NM_000168.6(GLI3):c.2408C>T (p.Ala803Val)
NM_000168.6(GLI3):c.2432-17C>T
NM_000168.6(GLI3):c.2445C>A (p.Asn815Lys)
NM_000168.6(GLI3):c.2486G>T (p.Gly829Val)
NM_000168.6(GLI3):c.2501C>G (p.Ser834Cys)
NM_000168.6(GLI3):c.2604G>A (p.Ser868=) rs758273867
NM_000168.6(GLI3):c.2604G>C (p.Ser868=) rs758273867
NM_000168.6(GLI3):c.2605C>T (p.Pro869Ser) rs1787187656
NM_000168.6(GLI3):c.2610C>T (p.Cys870=)
NM_000168.6(GLI3):c.2659C>A (p.Gln887Lys)
NM_000168.6(GLI3):c.26C>T (p.Thr9Met)
NM_000168.6(GLI3):c.2737G>A (p.Asp913Asn)
NM_000168.6(GLI3):c.2740_2748dup (p.Gly914_Pro916dup) rs752866793
NM_000168.6(GLI3):c.2745G>A (p.Leu915=)
NM_000168.6(GLI3):c.2862G>T (p.Lys954Asn)
NM_000168.6(GLI3):c.2928G>T (p.Pro976=) rs767210981
NM_000168.6(GLI3):c.293C>T (p.Ala98Val)
NM_000168.6(GLI3):c.2957G>A (p.Gly986Asp)
NM_000168.6(GLI3):c.2973C>G (p.His991Gln)
NM_000168.6(GLI3):c.2991G>T (p.Ala997=)
NM_000168.6(GLI3):c.3001G>A (p.Gly1001Ser) rs202182779
NM_000168.6(GLI3):c.3003C>T (p.Gly1001=)
NM_000168.6(GLI3):c.3092A>G (p.Asn1031Ser)
NM_000168.6(GLI3):c.3098C>A (p.Pro1033Gln) rs376956433
NM_000168.6(GLI3):c.3099G>A (p.Pro1033=)
NM_000168.6(GLI3):c.3100G>A (p.Ala1034Thr)
NM_000168.6(GLI3):c.3110C>A (p.Thr1037Lys)
NM_000168.6(GLI3):c.3115G>A (p.Ala1039Thr) rs770430876
NM_000168.6(GLI3):c.3132C>G (p.Leu1044=)
NM_000168.6(GLI3):c.3160G>A (p.Gly1054Ser)
NM_000168.6(GLI3):c.319A>G (p.Thr107Ala)
NM_000168.6(GLI3):c.3210C>A (p.Thr1070=)
NM_000168.6(GLI3):c.3254A>G (p.Asn1085Ser)
NM_000168.6(GLI3):c.3273C>T (p.Phe1091=)
NM_000168.6(GLI3):c.3285C>T (p.Asp1095=)
NM_000168.6(GLI3):c.3286G>A (p.Val1096Met)
NM_000168.6(GLI3):c.3305C>A (p.Ser1102Tyr)
NM_000168.6(GLI3):c.3324C>T (p.Tyr1108=)
NM_000168.6(GLI3):c.3378C>T (p.Pro1126=)
NM_000168.6(GLI3):c.3405A>T (p.Pro1135=) rs1562658413
NM_000168.6(GLI3):c.3522C>T (p.Ser1174=)
NM_000168.6(GLI3):c.3549C>T (p.Pro1183=)
NM_000168.6(GLI3):c.3569C>T (p.Ala1190Val)
NM_000168.6(GLI3):c.3579C>T (p.Phe1193=) rs1583729785
NM_000168.6(GLI3):c.3630T>C (p.Ala1210=)
NM_000168.6(GLI3):c.3635G>A (p.Gly1212Asp)
NM_000168.6(GLI3):c.367+19C>T
NM_000168.6(GLI3):c.3670G>A (p.Gly1224Ser) rs772438444
NM_000168.6(GLI3):c.3698A>G (p.Asn1233Ser)
NM_000168.6(GLI3):c.3768C>T (p.Asn1256=) rs1583729202
NM_000168.6(GLI3):c.3780G>A (p.Arg1260=) rs374477953
NM_000168.6(GLI3):c.3818G>T (p.Gly1273Val)
NM_000168.6(GLI3):c.3877C>G (p.Leu1293Val) rs1476153727
NM_000168.6(GLI3):c.3877C>T (p.Leu1293=)
NM_000168.6(GLI3):c.3946G>A (p.Asp1316Asn)
NM_000168.6(GLI3):c.3971C>G (p.Ala1324Gly)
NM_000168.6(GLI3):c.4016G>A (p.Arg1339His)
NM_000168.6(GLI3):c.4020C>G (p.Pro1340=)
NM_000168.6(GLI3):c.4095A>C (p.Pro1365=)
NM_000168.6(GLI3):c.4164C>T (p.Ser1388=)
NM_000168.6(GLI3):c.4186G>C (p.Ala1396Pro)
NM_000168.6(GLI3):c.4189A>G (p.Met1397Val)
NM_000168.6(GLI3):c.4193C>T (p.Pro1398Leu)
NM_000168.6(GLI3):c.4234A>G (p.Thr1412Ala)
NM_000168.6(GLI3):c.4283A>C (p.Gln1428Pro)
NM_000168.6(GLI3):c.4292C>T (p.Pro1431Leu) rs144128064
NM_000168.6(GLI3):c.4331A>G (p.Tyr1444Cys)
NM_000168.6(GLI3):c.433C>T (p.Arg145Cys)
NM_000168.6(GLI3):c.4346G>A (p.Gly1449Asp)
NM_000168.6(GLI3):c.4362C>T (p.Asp1454=)
NM_000168.6(GLI3):c.4392C>T (p.Asp1464=)
NM_000168.6(GLI3):c.4409A>G (p.Gln1470Arg)
NM_000168.6(GLI3):c.4483G>A (p.Asp1495Asn)
NM_000168.6(GLI3):c.4495C>G (p.Leu1499Val)
NM_000168.6(GLI3):c.455C>T (p.Pro152Leu)
NM_000168.6(GLI3):c.4564G>C (p.Ala1522Pro)
NM_000168.6(GLI3):c.4564G>T (p.Ala1522Ser) rs758379697
NM_000168.6(GLI3):c.4574C>T (p.Pro1525Leu)
NM_000168.6(GLI3):c.4605C>T (p.Ser1535=)
NM_000168.6(GLI3):c.4625G>A (p.Arg1542Gln) rs1189345797
NM_000168.6(GLI3):c.4638A>G (p.Pro1546=) rs1233172983
NM_000168.6(GLI3):c.463C>T (p.Pro155Ser)
NM_000168.6(GLI3):c.4698G>A (p.Leu1566=) rs905011458
NM_000168.6(GLI3):c.4712A>G (p.Glu1571Gly)
NM_000168.6(GLI3):c.474-8G>T rs2128742744
NM_000168.6(GLI3):c.487T>C (p.Ser163Pro)
NM_000168.6(GLI3):c.522T>C (p.Ile174=)
NM_000168.6(GLI3):c.636G>T (p.Ser212=) rs369422937
NM_000168.6(GLI3):c.679+9A>G
NM_000168.6(GLI3):c.680-20C>T
NM_000168.6(GLI3):c.698G>A (p.Ser233Asn) rs1182112270
NM_000168.6(GLI3):c.699C>T (p.Ser233=) rs2128741271
NM_000168.6(GLI3):c.776C>G (p.Ala259Gly) rs565817241
NM_000168.6(GLI3):c.802A>G (p.Met268Val)
NM_000168.6(GLI3):c.826+10G>A
NM_000168.6(GLI3):c.827-15T>C
NM_000168.6(GLI3):c.90C>T (p.Ser30=)
NM_000168.6(GLI3):c.936G>T (p.Thr312=) rs200965295
NM_000168.6(GLI3):c.956C>T (p.Thr319Met)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.