ClinVar Miner

List of variants in gene GLI3 reported as uncertain significance for polydactyly-syndactyly-triphalangism

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 392
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.*265A>C rs201493390 0.08079
NM_000168.6(GLI3):c.*248T>A rs61091998 0.04248
NM_000168.6(GLI3):c.*2517G>A rs568690074 0.00153
NM_000168.6(GLI3):c.*2666G>A rs117987369 0.00142
NM_000168.6(GLI3):c.*3309C>A rs553151369 0.00081
NM_000168.6(GLI3):c.*2620C>G rs56158069 0.00058
NM_000168.6(GLI3):c.*386A>G rs951401550 0.00024
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) rs376725882 0.00016
NM_000168.6(GLI3):c.-105A>G rs945082850 0.00014
NM_000168.6(GLI3):c.4508A>T (p.Gln1503Leu) rs1359183911 0.00014
NM_000168.6(GLI3):c.*1332C>T rs761351887 0.00013
NM_000168.6(GLI3):c.*185G>A rs531678760 0.00011
NM_000168.6(GLI3):c.*2465G>C rs886062314 0.00011
NM_000168.6(GLI3):c.*66G>T rs886062334 0.00011
NM_000168.6(GLI3):c.*974T>A rs886062328 0.00011
NM_000168.6(GLI3):c.2200G>A (p.Asp734Asn) rs140479817 0.00010
NM_000168.6(GLI3):c.3790G>A (p.Ala1264Thr) rs141285034 0.00010
NM_000168.6(GLI3):c.3734A>G (p.His1245Arg) rs372740903 0.00009
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln) rs140772904 0.00009
NM_000168.6(GLI3):c.*2276T>C rs568393106 0.00007
NM_000168.6(GLI3):c.*2676C>T rs886062312 0.00007
NM_000168.6(GLI3):c.*1263C>T rs886062324 0.00006
NM_000168.6(GLI3):c.*3369C>A rs886062310 0.00006
NM_000168.6(GLI3):c.223C>G (p.Pro75Ala) rs369237977 0.00006
NM_000168.6(GLI3):c.272A>G (p.His91Arg) rs768107926 0.00006
NM_000168.6(GLI3):c.2174A>C (p.Asn725Thr) rs749807129 0.00005
NM_000168.6(GLI3):c.*1780C>T rs886062319 0.00004
NM_000168.6(GLI3):c.1242+6del rs772496012 0.00004
NM_000168.6(GLI3):c.1325A>G (p.Asp442Gly) rs749073077 0.00004
NM_000168.6(GLI3):c.1540G>A (p.Val514Met) rs148502119 0.00004
NM_000168.6(GLI3):c.2740G>A (p.Gly914Ser) rs147004305 0.00004
NM_000168.6(GLI3):c.3611C>G (p.Pro1204Arg) rs543636524 0.00004
NM_000168.6(GLI3):c.4619C>A (p.Thr1540Lys) rs748031460 0.00004
NM_000168.6(GLI3):c.*1386A>G rs886062322 0.00003
NM_000168.6(GLI3):c.*2257A>T rs886062316 0.00003
NM_000168.6(GLI3):c.1066T>C (p.Ser356Pro) rs371057761 0.00003
NM_000168.6(GLI3):c.199G>A (p.Gly67Arg) rs374123528 0.00003
NM_000168.6(GLI3):c.659G>A (p.Arg220His) rs747805984 0.00003
NM_000168.6(GLI3):c.974G>A (p.Arg325His) rs781356257 0.00003
NM_000168.6(GLI3):c.*1007G>A rs886062327 0.00002
NM_000168.6(GLI3):c.*1470A>C rs1156419367 0.00002
NM_000168.6(GLI3):c.*165A>G rs886062333 0.00002
NM_000168.6(GLI3):c.1063G>A (p.Val355Ile) rs186192284 0.00002
NM_000168.6(GLI3):c.2540G>A (p.Arg847Lys) rs143406263 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.658C>T (p.Arg220Cys) rs758039889 0.00002
NM_000168.6(GLI3):c.743G>A (p.Arg248His) rs186337909 0.00002
NM_000168.6(GLI3):c.*1366C>T rs886062323 0.00001
NM_000168.6(GLI3):c.*1399T>C rs1160002644 0.00001
NM_000168.6(GLI3):c.*2089G>A rs865942966 0.00001
NM_000168.6(GLI3):c.*2176G>C rs1486012871 0.00001
NM_000168.6(GLI3):c.*2508G>C rs886062313 0.00001
NM_000168.6(GLI3):c.*3002A>G rs1484040578 0.00001
NM_000168.6(GLI3):c.*311T>A rs1189349323 0.00001
NM_000168.6(GLI3):c.*889T>C rs1318388633 0.00001
NM_000168.6(GLI3):c.1024A>G (p.Ile342Val) rs771132000 0.00001
NM_000168.6(GLI3):c.1057G>A (p.Ala353Thr) rs375277249 0.00001
NM_000168.6(GLI3):c.1159T>C (p.Phe387Leu) rs370794111 0.00001
NM_000168.6(GLI3):c.1346G>A (p.Arg449Gln) rs745809543 0.00001
NM_000168.6(GLI3):c.1525G>A (p.Glu509Lys) rs761808583 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.2004G>A (p.Pro668=) rs867192725 0.00001
NM_000168.6(GLI3):c.21C>T (p.Ser7=) rs770954230 0.00001
NM_000168.6(GLI3):c.233C>T (p.Ser78Leu) rs777937822 0.00001
NM_000168.6(GLI3):c.2375G>A (p.Arg792Gln) rs546878700 0.00001
NM_000168.6(GLI3):c.2412C>G (p.Val804=) rs761829250 0.00001
NM_000168.6(GLI3):c.2447A>C (p.Asn816Thr) rs968591547 0.00001
NM_000168.6(GLI3):c.2493C>A (p.Ser831Arg) rs752838669 0.00001
NM_000168.6(GLI3):c.2520G>A (p.Met840Ile) rs1283743237 0.00001
NM_000168.6(GLI3):c.2585G>A (p.Arg862His) rs1206529384 0.00001
NM_000168.6(GLI3):c.2623C>T (p.Arg875Cys) rs755227076 0.00001
NM_000168.6(GLI3):c.2652C>T (p.Gly884=) rs886042483 0.00001
NM_000168.6(GLI3):c.2729G>A (p.Ser910Asn) rs750790986 0.00001
NM_000168.6(GLI3):c.2881G>A (p.Gly961Arg) rs745986297 0.00001
NM_000168.6(GLI3):c.3133G>A (p.Val1045Met) rs1166711228 0.00001
NM_000168.6(GLI3):c.3278C>T (p.Pro1093Leu) rs777149082 0.00001
NM_000168.6(GLI3):c.3557C>T (p.Pro1186Leu) rs541487979 0.00001
NM_000168.6(GLI3):c.3586G>C (p.Gly1196Arg) rs376413286 0.00001
NM_000168.6(GLI3):c.367C>T (p.His123Tyr) rs199909375 0.00001
NM_000168.6(GLI3):c.3786A>G (p.Pro1262=) rs368450304 0.00001
NM_000168.6(GLI3):c.4148A>G (p.Tyr1383Cys) rs894551472 0.00001
NM_000168.6(GLI3):c.4187C>A (p.Ala1396Asp) rs373003816 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.781G>A (p.Ala261Thr) rs139274834 0.00001
NC_000007.13:g.(?_42262709)_(42262852_?)dup
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.*1553T>G rs1787043241
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.*2612A>G rs1583724689
NM_000168.6(GLI3):c.*266_*267insA rs1554304160
NM_000168.6(GLI3):c.*2744T>G rs1050141162
NM_000168.6(GLI3):c.*2861T>G rs1787010195
NM_000168.6(GLI3):c.*3094T>C rs886062311
NM_000168.6(GLI3):c.*333A>G rs1787080355
NM_000168.6(GLI3):c.*512C>T rs886062330
NM_000168.6(GLI3):c.*589T>C rs886062329
NM_000168.6(GLI3):c.*73C>T rs1787093147
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.100G>T (p.Val34Phe)
NM_000168.6(GLI3):c.1058C>T (p.Ala353Val)
NM_000168.6(GLI3):c.1075A>G (p.Met359Val)
NM_000168.6(GLI3):c.1086G>T (p.Gln362His)
NM_000168.6(GLI3):c.1123G>C (p.Gly375Arg)
NM_000168.6(GLI3):c.1128C>G (p.His376Gln)
NM_000168.6(GLI3):c.1177A>G (p.Ile393Val) rs1380213537
NM_000168.6(GLI3):c.1185G>T (p.Gly395=)
NM_000168.6(GLI3):c.1195G>C (p.Val399Leu)
NM_000168.6(GLI3):c.1204C>G (p.Pro402Ala)
NM_000168.6(GLI3):c.1217G>C (p.Ser406Thr)
NM_000168.6(GLI3):c.1235C>A (p.Ser412Tyr)
NM_000168.6(GLI3):c.12G>T (p.Gln4His)
NM_000168.6(GLI3):c.1315C>T (p.Pro439Ser) rs1789080071
NM_000168.6(GLI3):c.1318G>A (p.Asp440Asn)
NM_000168.6(GLI3):c.1323A>C (p.Glu441Asp)
NM_000168.6(GLI3):c.1327C>G (p.Leu443Val)
NM_000168.6(GLI3):c.1330C>T (p.Pro444Ser)
NM_000168.6(GLI3):c.1343C>T (p.Ala448Val) rs912576738
NM_000168.6(GLI3):c.1345C>T (p.Arg449Trp)
NM_000168.6(GLI3):c.1348G>T (p.Gly450Trp)
NM_000168.6(GLI3):c.1353G>T (p.Gln451His)
NM_000168.6(GLI3):c.13T>C (p.Ser5Pro)
NM_000168.6(GLI3):c.1401A>T (p.Lys467Asn)
NM_000168.6(GLI3):c.1415A>G (p.Gln472Arg)
NM_000168.6(GLI3):c.1459T>A (p.Cys487Ser)
NM_000168.6(GLI3):c.1470G>C (p.Glu490Asp)
NM_000168.6(GLI3):c.1471T>C (p.Phe491Leu)
NM_000168.6(GLI3):c.1496A>G (p.His499Arg)
NM_000168.6(GLI3):c.1497+5G>A rs2128730749
NM_000168.6(GLI3):c.1519C>G (p.His507Asp)
NM_000168.6(GLI3):c.1562C>T (p.Ser521Leu)
NM_000168.6(GLI3):c.1596G>A (p.Met532Ile)
NM_000168.6(GLI3):c.1613G>A (p.Arg538Lys) rs2128712790
NM_000168.6(GLI3):c.1618C>G (p.His540Asp)
NM_000168.6(GLI3):c.1626C>T (p.Gly542=)
NM_000168.6(GLI3):c.1627G>A (p.Glu543Lys) rs121917711
NM_000168.6(GLI3):c.1642T>C (p.Cys548Arg)
NM_000168.6(GLI3):c.1647+5G>T
NM_000168.6(GLI3):c.1648-7T>A rs1787547025
NM_000168.6(GLI3):c.1756G>C (p.Ala586Pro)
NM_000168.6(GLI3):c.1777C>G (p.Arg593Gly) rs1787545027
NM_000168.6(GLI3):c.1778G>A (p.Arg593His)
NM_000168.6(GLI3):c.1791A>G (p.Gln597=)
NM_000168.6(GLI3):c.17A>C (p.His6Pro)
NM_000168.6(GLI3):c.1808A>G (p.Asn603Ser)
NM_000168.6(GLI3):c.1822G>A (p.Val608Met)
NM_000168.6(GLI3):c.1835C>T (p.Pro612Leu)
NM_000168.6(GLI3):c.1849_1850insTTA (p.Arg617delinsLeuSer)
NM_000168.6(GLI3):c.1919A>G (p.Lys640Arg) rs1583741915
NM_000168.6(GLI3):c.1930G>A (p.Gly644Arg) rs917006091
NM_000168.6(GLI3):c.1943C>G (p.Pro648Arg)
NM_000168.6(GLI3):c.1948C>A (p.Pro650Thr)
NM_000168.6(GLI3):c.1949C>T (p.Pro650Leu)
NM_000168.6(GLI3):c.1954C>A (p.Pro652Thr)
NM_000168.6(GLI3):c.1957C>T (p.Pro653Ser) rs1787391168
NM_000168.6(GLI3):c.2000G>A (p.Arg667Gln)
NM_000168.6(GLI3):c.2000G>T (p.Arg667Leu) rs373926115
NM_000168.6(GLI3):c.2029C>G (p.Gln677Glu)
NM_000168.6(GLI3):c.2039G>A (p.Ser680Asn)
NM_000168.6(GLI3):c.2042A>G (p.Asn681Ser)
NM_000168.6(GLI3):c.2048C>T (p.Thr683Ile) rs979364849
NM_000168.6(GLI3):c.2056C>T (p.Arg686Trp)
NM_000168.6(GLI3):c.2083G>T (p.Val695Phe)
NM_000168.6(GLI3):c.2096A>C (p.Lys699Thr)
NM_000168.6(GLI3):c.2098C>T (p.Pro700Ser) rs1583741492
NM_000168.6(GLI3):c.2101A>G (p.Met701Val)
NM_000168.6(GLI3):c.2103+5G>A
NM_000168.6(GLI3):c.2137T>C (p.Cys713Arg)
NM_000168.6(GLI3):c.2200G>T (p.Asp734Tyr)
NM_000168.6(GLI3):c.2264C>T (p.Ser755Phe)
NM_000168.6(GLI3):c.229A>G (p.Thr77Ala)
NM_000168.6(GLI3):c.2300G>A (p.Arg767Lys)
NM_000168.6(GLI3):c.2305C>T (p.Pro769Ser)
NM_000168.6(GLI3):c.2308G>T (p.Ala770Ser) rs1355649064
NM_000168.6(GLI3):c.2326G>A (p.Glu776Lys)
NM_000168.6(GLI3):c.232T>G (p.Ser78Ala)
NM_000168.6(GLI3):c.2386A>C (p.Ile796Leu)
NM_000168.6(GLI3):c.2386A>G (p.Ile796Val)
NM_000168.6(GLI3):c.2390T>C (p.Leu797Pro)
NM_000168.6(GLI3):c.2395C>A (p.Pro799Thr)
NM_000168.6(GLI3):c.2407G>C (p.Ala803Pro)
NM_000168.6(GLI3):c.2408C>T (p.Ala803Val)
NM_000168.6(GLI3):c.2416C>T (p.Pro806Ser)
NM_000168.6(GLI3):c.2434A>T (p.Thr812Ser)
NM_000168.6(GLI3):c.2441C>A (p.Ser814Tyr)
NM_000168.6(GLI3):c.2452T>C (p.Cys818Arg)
NM_000168.6(GLI3):c.2465G>A (p.Gly822Glu)
NM_000168.6(GLI3):c.2494G>C (p.Asp832His)
NM_000168.6(GLI3):c.2501C>T (p.Ser834Phe)
NM_000168.6(GLI3):c.2506G>A (p.Val836Met)
NM_000168.6(GLI3):c.2507T>A (p.Val836Glu)
NM_000168.6(GLI3):c.2532C>T (p.Leu844=)
NM_000168.6(GLI3):c.2587C>A (p.Arg863Ser)
NM_000168.6(GLI3):c.2593_2628dup (p.Ser877_Glu878insGlyIleSerProCysPheSerSerArgArgSerSer)
NM_000168.6(GLI3):c.2608T>G (p.Cys870Gly)
NM_000168.6(GLI3):c.2624G>A (p.Arg875His)
NM_000168.6(GLI3):c.263A>G (p.Lys88Arg)
NM_000168.6(GLI3):c.2651G>A (p.Gly884Asp)
NM_000168.6(GLI3):c.2653C>T (p.Arg885Trp)
NM_000168.6(GLI3):c.2667G>A (p.Val889=)
NM_000168.6(GLI3):c.2678A>G (p.Asp893Gly)
NM_000168.6(GLI3):c.2689C>T (p.Pro897Ser)
NM_000168.6(GLI3):c.2711G>A (p.Arg904His)
NM_000168.6(GLI3):c.2714G>C (p.Arg905Pro)
NM_000168.6(GLI3):c.2719A>T (p.Ser907Cys)
NM_000168.6(GLI3):c.2767C>A (p.Pro923Thr)
NM_000168.6(GLI3):c.2767C>G (p.Pro923Ala)
NM_000168.6(GLI3):c.2774A>C (p.Gln925Pro)
NM_000168.6(GLI3):c.2795A>G (p.Lys932Arg)
NM_000168.6(GLI3):c.2828C>T (p.Thr943Met)
NM_000168.6(GLI3):c.2833C>A (p.Leu945Met)
NM_000168.6(GLI3):c.2844G>A (p.Met948Ile)
NM_000168.6(GLI3):c.2875C>G (p.Leu959Val)
NM_000168.6(GLI3):c.2883G>T (p.Gly961=)
NM_000168.6(GLI3):c.2884G>C (p.Asp962His)
NM_000168.6(GLI3):c.2927C>G (p.Pro976Arg)
NM_000168.6(GLI3):c.2944G>A (p.Gly982Arg) rs751382968
NM_000168.6(GLI3):c.2948G>A (p.Gly983Glu)
NM_000168.6(GLI3):c.2950G>A (p.Ala984Thr)
NM_000168.6(GLI3):c.2962G>A (p.Gly988Arg)
NM_000168.6(GLI3):c.2965C>T (p.Arg989Trp)
NM_000168.6(GLI3):c.2966G>A (p.Arg989Gln)
NM_000168.6(GLI3):c.2968C>T (p.Arg990Cys)
NM_000168.6(GLI3):c.2985C>A (p.His995Gln)
NM_000168.6(GLI3):c.2992C>G (p.Pro998Ala)
NM_000168.6(GLI3):c.3035G>T (p.Gly1012Val)
NM_000168.6(GLI3):c.3040G>C (p.Glu1014Gln) rs373643864
NM_000168.6(GLI3):c.3059G>A (p.Arg1020His)
NM_000168.6(GLI3):c.3065C>T (p.Pro1022Leu) rs780814828
NM_000168.6(GLI3):c.3074G>A (p.Ser1025Asn)
NM_000168.6(GLI3):c.3078C>G (p.Ser1026Arg) rs1436522227
NM_000168.6(GLI3):c.3079_3087dup (p.Ser1029_Cys1030insLeuSerSer)
NM_000168.6(GLI3):c.308C>T (p.Pro103Leu)
NM_000168.6(GLI3):c.3097C>A (p.Pro1033Thr)
NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys) rs772839719
NM_000168.6(GLI3):c.3133G>C (p.Val1045Leu)
NM_000168.6(GLI3):c.3140_3141delinsCA (p.Gln1047Pro) rs1064796326
NM_000168.6(GLI3):c.3155C>G (p.Pro1052Arg) rs2128705843
NM_000168.6(GLI3):c.3203G>C (p.Ser1068Thr)
NM_000168.6(GLI3):c.3211G>A (p.Glu1071Lys)
NM_000168.6(GLI3):c.3232C>G (p.Leu1078Val)
NM_000168.6(GLI3):c.3239T>G (p.Met1080Arg)
NM_000168.6(GLI3):c.3243C>G (p.Asp1081Glu)
NM_000168.6(GLI3):c.3284A>G (p.Asp1095Gly) rs1554304659
NM_000168.6(GLI3):c.3286G>A (p.Val1096Met)
NM_000168.6(GLI3):c.3305C>A (p.Ser1102Tyr)
NM_000168.6(GLI3):c.3305C>G (p.Ser1102Cys)
NM_000168.6(GLI3):c.331A>T (p.Met111Leu)
NM_000168.6(GLI3):c.3342C>A (p.Ser1114Arg)
NM_000168.6(GLI3):c.3349C>T (p.Pro1117Ser)
NM_000168.6(GLI3):c.3354C>G (p.Asp1118Glu)
NM_000168.6(GLI3):c.3358A>G (p.Ser1120Gly) rs1787150460
NM_000168.6(GLI3):c.3362_3363delinsCG (p.Lys1121Thr) rs1787150394
NM_000168.6(GLI3):c.3368C>T (p.Pro1123Leu)
NM_000168.6(GLI3):c.3373G>C (p.Gly1125Arg) rs772233504
NM_000168.6(GLI3):c.3374G>A (p.Gly1125Glu)
NM_000168.6(GLI3):c.3383A>G (p.Asp1128Gly)
NM_000168.6(GLI3):c.3391G>A (p.Ala1131Thr)
NM_000168.6(GLI3):c.3392_3397del (p.Ala1131_Pro1132del) rs1787148453
NM_000168.6(GLI3):c.3393G>T (p.Ala1131=)
NM_000168.6(GLI3):c.3397G>A (p.Gly1133Arg)
NM_000168.6(GLI3):c.3436C>T (p.Leu1146Phe)
NM_000168.6(GLI3):c.3451C>A (p.Pro1151Thr)
NM_000168.6(GLI3):c.3466A>G (p.Thr1156Ala)
NM_000168.6(GLI3):c.3478A>G (p.Ile1160Val)
NM_000168.6(GLI3):c.3508_3509delinsAG (p.Ala1170Ser)
NM_000168.6(GLI3):c.3517TCC[2] (p.Ser1175del)
NM_000168.6(GLI3):c.3534G>C (p.Lys1178Asn)
NM_000168.6(GLI3):c.353T>C (p.Met118Thr) rs886062339
NM_000168.6(GLI3):c.3548C>T (p.Pro1183Leu)
NM_000168.6(GLI3):c.3569C>T (p.Ala1190Val)
NM_000168.6(GLI3):c.356A>C (p.Glu119Ala)
NM_000168.6(GLI3):c.3589A>G (p.Met1197Val)
NM_000168.6(GLI3):c.3614T>C (p.Leu1205Ser)
NM_000168.6(GLI3):c.3620_3621delinsAA (p.Ser1207Lys)
NM_000168.6(GLI3):c.3649G>C (p.Gly1217Arg)
NM_000168.6(GLI3):c.367+4A>G
NM_000168.6(GLI3):c.368-3C>T
NM_000168.6(GLI3):c.3695A>C (p.His1232Pro) rs780924905
NM_000168.6(GLI3):c.3712G>A (p.Gly1238Ser)
NM_000168.6(GLI3):c.3715A>G (p.Thr1239Ala)
NM_000168.6(GLI3):c.3746G>A (p.Cys1249Tyr)
NM_000168.6(GLI3):c.3752C>T (p.Ala1251Val)
NM_000168.6(GLI3):c.3755C>G (p.Pro1252Arg)
NM_000168.6(GLI3):c.3761A>G (p.Tyr1254Cys)
NM_000168.6(GLI3):c.378T>A (p.His126Gln)
NM_000168.6(GLI3):c.3799G>A (p.Ala1267Thr)
NM_000168.6(GLI3):c.3821C>T (p.Ala1274Val)
NM_000168.6(GLI3):c.3853C>A (p.Pro1285Thr)
NM_000168.6(GLI3):c.3853C>T (p.Pro1285Ser)
NM_000168.6(GLI3):c.3857T>G (p.Met1286Arg) rs1787128835
NM_000168.6(GLI3):c.3859C>G (p.Gln1287Glu)
NM_000168.6(GLI3):c.3877C>G (p.Leu1293Val) rs1476153727
NM_000168.6(GLI3):c.3892C>G (p.Pro1298Ala)
NM_000168.6(GLI3):c.3917G>A (p.Gly1306Asp)
NM_000168.6(GLI3):c.3946G>C (p.Asp1316His)
NM_000168.6(GLI3):c.3961G>T (p.Gly1321Trp)
NM_000168.6(GLI3):c.3985G>C (p.Gly1329Arg)
NM_000168.6(GLI3):c.3988G>A (p.Asp1330Asn)
NM_000168.6(GLI3):c.398C>G (p.Pro133Arg)
NM_000168.6(GLI3):c.39_41del (p.Lys15del)
NM_000168.6(GLI3):c.4007_4009delinsAGT (p.Gly1336_Ala1337delinsGluSer) rs1562657448
NM_000168.6(GLI3):c.4009G>T (p.Ala1337Ser)
NM_000168.6(GLI3):c.4016G>T (p.Arg1339Leu) rs756685313
NM_000168.6(GLI3):c.4021G>T (p.Gly1341Cys)
NM_000168.6(GLI3):c.4029G>C (p.Gln1343His)
NM_000168.6(GLI3):c.4032G>A (p.Met1344Ile)
NM_000168.6(GLI3):c.4033C>T (p.Leu1345Phe)
NM_000168.6(GLI3):c.4037G>A (p.Gly1346Glu)
NM_000168.6(GLI3):c.4043_4045del (p.Ile1348del)
NM_000168.6(GLI3):c.4064A>G (p.Asn1355Ser)
NM_000168.6(GLI3):c.4066A>T (p.Ile1356Phe)
NM_000168.6(GLI3):c.4088G>A (p.Cys1363Tyr)
NM_000168.6(GLI3):c.4105G>A (p.Gly1369Ser)
NM_000168.6(GLI3):c.4110G>A (p.Met1370Ile)
NM_000168.6(GLI3):c.4120C>T (p.Pro1374Ser)
NM_000168.6(GLI3):c.4144G>C (p.Gly1382Arg)
NM_000168.6(GLI3):c.4145G>T (p.Gly1382Val)
NM_000168.6(GLI3):c.4165T>C (p.Phe1389Leu)
NM_000168.6(GLI3):c.4181G>T (p.Arg1394Leu)
NM_000168.6(GLI3):c.4208C>A (p.Ala1403Asp)
NM_000168.6(GLI3):c.4234A>T (p.Thr1412Ser)
NM_000168.6(GLI3):c.4236_4237del (p.Gln1414fs)
NM_000168.6(GLI3):c.4247G>T (p.Cys1416Phe)
NM_000168.6(GLI3):c.4267A>C (p.Met1423Leu)
NM_000168.6(GLI3):c.4267A>T (p.Met1423Leu)
NM_000168.6(GLI3):c.4284G>T (p.Gln1428His)
NM_000168.6(GLI3):c.4292C>T (p.Pro1431Leu) rs144128064
NM_000168.6(GLI3):c.4296G>A (p.Leu1432=) rs768735366
NM_000168.6(GLI3):c.4318T>C (p.Ser1440Pro)
NM_000168.6(GLI3):c.4331A>G (p.Tyr1444Cys)
NM_000168.6(GLI3):c.4352G>A (p.Ser1451Asn)
NM_000168.6(GLI3):c.4394C>T (p.Ala1465Val)
NM_000168.6(GLI3):c.4447G>C (p.Gly1483Arg)
NM_000168.6(GLI3):c.4451C>T (p.Ala1484Val)
NM_000168.6(GLI3):c.4455T>A (p.Asn1485Lys)
NM_000168.6(GLI3):c.446A>T (p.Asp149Val)
NM_000168.6(GLI3):c.4477A>G (p.Ser1493Gly)
NM_000168.6(GLI3):c.4510A>T (p.Ile1504Phe)
NM_000168.6(GLI3):c.4534G>C (p.Asp1512His)
NM_000168.6(GLI3):c.4542C>G (p.Asp1514Glu)
NM_000168.6(GLI3):c.4543C>A (p.His1515Asn) rs2128704805
NM_000168.6(GLI3):c.4564G>C (p.Ala1522Pro)
NM_000168.6(GLI3):c.4567C>G (p.Leu1523Val)
NM_000168.6(GLI3):c.4574C>T (p.Pro1525Leu)
NM_000168.6(GLI3):c.4597C>A (p.His1533Asn) rs1787103191
NM_000168.6(GLI3):c.4598A>G (p.His1533Arg)
NM_000168.6(GLI3):c.45A>T (p.Lys15Asn) rs1395531508
NM_000168.6(GLI3):c.4610G>C (p.Arg1537Pro)
NM_000168.6(GLI3):c.4627G>T (p.Ala1543Ser) rs1787101579
NM_000168.6(GLI3):c.463C>T (p.Pro155Ser)
NM_000168.6(GLI3):c.4642C>T (p.Pro1548Ser)
NM_000168.6(GLI3):c.4652C>G (p.Ser1551Cys)
NM_000168.6(GLI3):c.4660A>G (p.Thr1554Ala)
NM_000168.6(GLI3):c.4675A>G (p.Ile1559Val) rs1583727133
NM_000168.6(GLI3):c.4683C>G (p.Asp1561Glu)
NM_000168.6(GLI3):c.4709C>T (p.Ala1570Val) rs41305933
NM_000168.6(GLI3):c.473+5G>A rs1784885465
NM_000168.6(GLI3):c.4736T>C (p.Met1579Thr)
NM_000168.6(GLI3):c.474-3C>T
NM_000168.6(GLI3):c.508G>C (p.Asp170His)
NM_000168.6(GLI3):c.538C>T (p.Arg180Trp)
NM_000168.6(GLI3):c.614G>A (p.Arg205His)
NM_000168.6(GLI3):c.641C>T (p.Ser214Phe) rs886062338
NM_000168.6(GLI3):c.655A>G (p.Thr219Ala)
NM_000168.6(GLI3):c.661G>T (p.Gly221Trp)
NM_000168.6(GLI3):c.680C>T (p.Ala227Val)
NM_000168.6(GLI3):c.712T>C (p.Tyr238His)
NM_000168.6(GLI3):c.715_735del (p.His239_Thr245del)
NM_000168.6(GLI3):c.746G>A (p.Ser249Asn)
NM_000168.6(GLI3):c.76C>T (p.Arg26Ter)
NM_000168.6(GLI3):c.776C>G (p.Ala259Gly) rs565817241
NM_000168.6(GLI3):c.784G>A (p.Gly262Ser)
NM_000168.6(GLI3):c.814C>T (p.His272Tyr)
NM_000168.6(GLI3):c.827-6T>C rs886062337
NM_000168.6(GLI3):c.830C>A (p.Thr277Asn)
NM_000168.6(GLI3):c.925A>G (p.Met309Val)
NM_000168.6(GLI3):c.992G>A (p.Ser331Asn)

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