ClinVar Miner

List of variants studied for preaxial polydactyly of fingers

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 232
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.1356+11G>C rs846273 0.97240
NM_005269.3(GLI1):c.3298G>C (p.Glu1100Gln) rs2228226 0.68037
NM_005269.3(GLI1):c.2798G>A (p.Gly933Asp) rs2228224 0.47688
NM_005269.3(GLI1):c.576G>A (p.Glu192=) rs2228225 0.47502
NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu) rs929387 0.31467
NM_022458.4(LMBR1):c.*383T>C rs3487 0.17784
NM_022458.4(LMBR1):c.*1325C>T rs1053214 0.17503
NM_022458.4(LMBR1):c.*2089G>A rs17837686 0.13188
NM_022458.4(LMBR1):c.1092C>T (p.Val364=) rs59912051 0.10405
NM_022458.4(LMBR1):c.*89A>T rs3735186 0.08395
NM_000168.6(GLI3):c.900C>T (p.Ser300=) rs35961850 0.07677
NM_022458.4(LMBR1):c.682A>G (p.Thr228Ala) rs6957768 0.07428
NM_022458.4(LMBR1):c.*1444T>G rs17837687 0.04775
NM_022458.4(LMBR1):c.*1971A>T rs12530942 0.03709
NM_000168.6(GLI3):c.-42-11G>C rs80019165 0.03314
NM_022458.4(LMBR1):c.357T>C (p.Cys119=) rs112583005 0.03004
NM_022458.4(LMBR1):c.*91C>T rs75853117 0.02727
NM_022458.4(LMBR1):c.*2603A>G rs1014236 0.02144
NM_022458.4(LMBR1):c.*1922A>G rs75582340 0.01984
NM_022458.4(LMBR1):c.*722G>C rs11982416 0.01743
NM_022458.4(LMBR1):c.*1905C>G rs115581794 0.01706
NM_000168.6(GLI3):c.1029-7C>T rs78280303 0.01279
NM_022458.4(LMBR1):c.*15G>A rs78838110 0.00995
NM_000168.6(GLI3):c.1029-11C>T rs116195563 0.00867
NM_000168.6(GLI3):c.368-19G>A rs79879393 0.00858
NM_022458.4(LMBR1):c.*2489T>C rs191993720 0.00644
NM_000168.6(GLI3):c.2802G>A (p.Ala934=) rs61730503 0.00520
NM_022458.4(LMBR1):c.*1797G>C rs113036233 0.00464
NM_022458.4(LMBR1):c.*303T>C rs115465818 0.00434
NM_022458.4(LMBR1):c.*685G>A rs149399222 0.00426
NM_022458.4(LMBR1):c.*2609C>T rs114295738 0.00371
NM_022458.4(LMBR1):c.*36C>T rs79881605 0.00349
NM_022458.4(LMBR1):c.*100T>G rs111554843 0.00347
NM_022458.4(LMBR1):c.*3207T>G rs116521088 0.00342
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_000168.6(GLI3):c.2373G>A (p.Pro791=) rs61754622 0.00267
NM_000168.6(GLI3):c.1357-17C>G rs190600888 0.00256
NM_000168.6(GLI3):c.1028+15G>A rs116842918 0.00250
NM_022458.4(LMBR1):c.*2081G>A rs113867033 0.00235
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911 0.00198
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_000168.6(GLI3):c.280C>T (p.Leu94=) rs115137047 0.00193
NM_000168.6(GLI3):c.444C>T (p.Tyr148=) rs142241970 0.00191
NM_022458.4(LMBR1):c.-176G>A rs886062124 0.00170
NM_022458.4(LMBR1):c.*1357A>G rs568810522 0.00153
NM_022458.4(LMBR1):c.*2926G>C rs148658727 0.00148
NM_000168.6(GLI3):c.1671C>T (p.Tyr557=) rs143948870 0.00123
NM_022458.4(LMBR1):c.*1150A>G rs560435795 0.00118
NM_022458.4(LMBR1):c.*2477G>A rs151167124 0.00116
NM_022458.4(LMBR1):c.*1359G>A rs565001458 0.00115
NM_022458.4(LMBR1):c.*1061A>G rs138905233 0.00093
NM_000168.6(GLI3):c.501G>A (p.Thr167=) rs149901929 0.00084
NM_022458.4(LMBR1):c.*2065A>G rs146931391 0.00077
NM_022458.4(LMBR1):c.843G>A (p.Arg281=) rs140806590 0.00077
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=) rs149860242 0.00076
NM_022458.4(LMBR1):c.16G>A (p.Glu6Lys) rs139646169 0.00069
NM_000168.6(GLI3):c.1647+13G>A rs149955824 0.00066
NM_022458.4(LMBR1):c.*1469C>T rs184156281 0.00061
NM_022458.4(LMBR1):c.*2667A>T rs187134101 0.00037
NM_022458.4(LMBR1):c.*2761G>A rs182572414 0.00035
NM_022458.4(LMBR1):c.*1841T>A rs1012360796 0.00034
NM_000168.6(GLI3):c.211G>A (p.Val71Ile) rs143843875 0.00031
NM_000168.6(GLI3):c.1242+8G>A rs75925934 0.00026
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572 0.00025
NM_022458.4(LMBR1):c.*2905T>A rs574914124 0.00025
NM_022458.4(LMBR1):c.*11C>T rs375283454 0.00024
NM_000168.6(GLI3):c.30C>T (p.Thr10=) rs148154157 0.00023
NM_000168.6(GLI3):c.474-4C>T rs74536326 0.00023
NM_022458.4(LMBR1):c.462T>G (p.Leu154=) rs765231166 0.00023
NM_022458.4(LMBR1):c.665A>C (p.Gln222Pro) rs201194692 0.00022
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His) rs560967532 0.00017
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) rs376725882 0.00016
NM_022458.4(LMBR1):c.1399C>G (p.Leu467Val) rs140722848 0.00015
NM_000168.6(GLI3):c.4508A>T (p.Gln1503Leu) rs1359183911 0.00014
NM_000168.6(GLI3):c.168C>T (p.Asn56=) rs376845825 0.00013
NM_022458.4(LMBR1):c.*2500A>G rs566692462 0.00013
NM_022458.4(LMBR1):c.*728G>A rs886062116 0.00012
NM_000168.6(GLI3):c.367+20G>A rs371365628 0.00011
NM_000168.6(GLI3):c.411T>C (p.Ile137=) rs200203051 0.00011
NM_022458.4(LMBR1):c.*2596A>G rs550168152 0.00011
NM_022458.4(LMBR1):c.-91C>G rs3735184 0.00011
NM_022458.4(LMBR1):c.432A>G (p.Arg144=) rs141871054 0.00011
NM_022458.4(LMBR1):c.61T>A (p.Ser21Thr) rs367632078 0.00011
NM_000168.6(GLI3):c.2200G>A (p.Asp734Asn) rs140479817 0.00010
NM_022458.4(LMBR1):c.*2016C>T rs529448700 0.00010
NM_022458.4(LMBR1):c.*305G>A rs771023322 0.00010
NM_000168.6(GLI3):c.288C>T (p.His96=) rs200905584 0.00009
NM_000168.6(GLI3):c.3734A>G (p.His1245Arg) rs372740903 0.00009
NM_000168.6(GLI3):c.4533C>T (p.Asp1511=) rs145513625 0.00009
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln) rs140772904 0.00009
NM_022458.4(LMBR1):c.*1470G>A rs549976103 0.00009
NM_022458.4(LMBR1):c.*1608C>T rs749633714 0.00009
NM_022458.4(LMBR1):c.770C>T (p.Ser257Leu) rs182641358 0.00009
NM_022458.4(LMBR1):c.474G>A (p.Ala158=) rs201832150 0.00008
NM_000168.6(GLI3):c.1740C>T (p.His580=) rs146154710 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_022458.4(LMBR1):c.*1172C>T rs1163939803 0.00007
NM_022458.4(LMBR1):c.*2297C>T rs367713862 0.00007
NM_000168.6(GLI3):c.1800G>A (p.Thr600=) rs138445547 0.00006
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_022458.4(LMBR1):c.*1358C>T rs150263103 0.00006
NM_022458.4(LMBR1):c.*2066G>C rs560208746 0.00006
NM_022458.4(LMBR1):c.*2706A>G rs775444879 0.00006
NM_022458.4(LMBR1):c.1026G>A (p.Thr342=) rs140247020 0.00006
NM_022458.4(LMBR1):c.52G>T (p.Val18Leu) rs147215221 0.00006
NM_000168.6(GLI3):c.1365C>T (p.Pro455=) rs544431683 0.00005
NM_000168.6(GLI3):c.2174A>C (p.Asn725Thr) rs749807129 0.00005
NM_022458.4(LMBR1):c.*2088C>T rs185766032 0.00005
NM_022458.4(LMBR1):c.*2820G>A rs550075183 0.00005
NM_000168.6(GLI3):c.1540G>A (p.Val514Met) rs148502119 0.00004
NM_000168.6(GLI3):c.2307G>A (p.Pro769=) rs766163765 0.00004
NM_000168.6(GLI3):c.2706C>T (p.Ala902=) rs779103816 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_022458.4(LMBR1):c.*2020T>C rs567467797 0.00004
NM_022458.4(LMBR1):c.*2262G>A rs911647400 0.00004
NM_022458.4(LMBR1):c.204C>T (p.Leu68=) rs766669976 0.00004
NM_022458.4(LMBR1):c.350A>G (p.Asn117Ser) rs568570543 0.00004
NM_000168.6(GLI3):c.199G>A (p.Gly67Arg) rs374123528 0.00003
NM_000168.6(GLI3):c.974G>A (p.Arg325His) rs781356257 0.00003
NM_014462.3(LSM1):c.231+4A>C rs775468919 0.00003
NM_022458.4(LMBR1):c.*2147T>C rs1273499025 0.00003
NM_022458.4(LMBR1):c.*246G>A rs745661512 0.00003
NM_022458.4(LMBR1):c.*2798C>T rs746253016 0.00003
NM_022458.4(LMBR1):c.*3180A>C rs886062110 0.00003
NM_022458.4(LMBR1):c.*3187A>G rs866814626 0.00003
NM_022458.4(LMBR1):c.-158G>A rs886062123 0.00003
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.3864G>A (p.Gly1288=) rs369272004 0.00002
NM_000168.6(GLI3):c.658C>T (p.Arg220Cys) rs758039889 0.00002
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.1525G>A (p.Glu509Lys) rs761808583 0.00001
NM_000168.6(GLI3):c.233C>T (p.Ser78Leu) rs777937822 0.00001
NM_000168.6(GLI3):c.246G>A (p.Arg82=) rs890167751 0.00001
NM_000168.6(GLI3):c.2520G>A (p.Met840Ile) rs1283743237 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.2881G>A (p.Gly961Arg) rs745986297 0.00001
NM_000168.6(GLI3):c.3054G>A (p.Leu1018=) rs1022587271 0.00001
NM_000168.6(GLI3):c.3261C>T (p.Asn1087=) rs370714837 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.4008G>A (p.Gly1336=) rs755403372 0.00001
NM_000168.6(GLI3):c.4187C>A (p.Ala1396Asp) rs373003816 0.00001
NM_000168.6(GLI3):c.506C>T (p.Pro169Leu) rs1419861206 0.00001
NM_000168.6(GLI3):c.781G>A (p.Ala261Thr) rs139274834 0.00001
NM_005269.3(GLI1):c.1517T>A (p.Leu506Gln) rs753690500 0.00001
NM_022458.4(LMBR1):c.*1363G>T rs1032886313 0.00001
NM_022458.4(LMBR1):c.*1560T>A rs1307260930 0.00001
NM_022458.4(LMBR1):c.*245C>T rs1036026971 0.00001
NM_022458.4(LMBR1):c.*2658T>C rs1205792107 0.00001
NM_022458.4(LMBR1):c.*457C>G rs886062118 0.00001
NM_022458.4(LMBR1):c.-154G>A rs886062122 0.00001
NM_022458.4(LMBR1):c.1083C>T (p.Ser361=) rs757854346 0.00001
NM_022458.4(LMBR1):c.1159-3C>T rs369446617 0.00001
NM_022458.4(LMBR1):c.165C>T (p.Ile55=) rs752415935 0.00001
NM_022458.4(LMBR1):c.423+4915C>T rs587779752 0.00001
NM_022458.4(LMBR1):c.435C>T (p.Ala145=) rs563054181 0.00001
NM_022458.4(LMBR1):c.529G>A (p.Ala177Thr) rs148974610 0.00001
NM_022458.4(LMBR1):c.627A>G (p.Thr209=) rs1227969762 0.00001
46;XX;t(7;14)(p15;q24)dn
46;XY;t(4;14)(p14;q11.2)dn
NM_000168.6(GLI3):c.1029-22dup rs559579130
NM_000168.6(GLI3):c.1325_1328dup (p.Ser445fs)
NM_000168.6(GLI3):c.1343C>T (p.Ala448Val) rs912576738
NM_000168.6(GLI3):c.1357-9T>A rs1583801330
NM_000168.6(GLI3):c.1673C>A (p.Ser558Ter) rs1356013382
NM_000168.6(GLI3):c.1880_1881del (p.His627fs) rs2128710014
NM_000168.6(GLI3):c.2000G>T (p.Arg667Leu) rs373926115
NM_000168.6(GLI3):c.2876_2880dup (p.Gly961fs)
NM_000168.6(GLI3):c.3083_3084delinsTT (p.Ser1028Ile) rs886043721
NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys) rs772839719
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.3284A>G (p.Asp1095Gly) rs1554304659
NM_000168.6(GLI3):c.3646dup (p.Leu1216fs) rs1583729562
NM_000168.6(GLI3):c.3877C>G (p.Leu1293Val) rs1476153727
NM_000168.6(GLI3):c.4292C>T (p.Pro1431Leu) rs144128064
NM_000168.6(GLI3):c.438C>G (p.Tyr146Ter) rs151222023
NM_000168.6(GLI3):c.4597C>A (p.His1533Asn) rs1787103191
NM_000168.6(GLI3):c.4709C>T (p.Ala1570Val) rs41305933
NM_000168.6(GLI3):c.473+5G>A rs1784885465
NM_000168.6(GLI3):c.868C>T (p.Arg290Ter) rs121917713
NM_022458.4(LMBR1):c.*1259C>T rs1180240267
NM_022458.4(LMBR1):c.*1347A>G rs1805281351
NM_022458.4(LMBR1):c.*1534A>G rs886062114
NM_022458.4(LMBR1):c.*166G>T rs886062119
NM_022458.4(LMBR1):c.*1862T>A rs886062113
NM_022458.4(LMBR1):c.*2080C>T rs970281844
NM_022458.4(LMBR1):c.*2198C>G rs116037533
NM_022458.4(LMBR1):c.*2451C>A rs1351176342
NM_022458.4(LMBR1):c.*2458A>G rs1805049784
NM_022458.4(LMBR1):c.*2519T>A rs772161675
NM_022458.4(LMBR1):c.*2744G>T rs886062112
NM_022458.4(LMBR1):c.*2771G>A rs756411300
NM_022458.4(LMBR1):c.*2773G>T rs886062111
NM_022458.4(LMBR1):c.*2899A>T rs748449219
NM_022458.4(LMBR1):c.*2948G>T rs777769323
NM_022458.4(LMBR1):c.*650A>G rs886062117
NM_022458.4(LMBR1):c.*916C>A rs182736380
NM_022458.4(LMBR1):c.-146C>T rs751044177
NM_022458.4(LMBR1):c.1095C>T (p.Gly365=) rs60299355
NM_022458.4(LMBR1):c.1111T>G (p.Phe371Val) rs886062120
NM_022458.4(LMBR1):c.1233T>C (p.Thr411=) rs376730383
NM_022458.4(LMBR1):c.240C>G (p.Phe80Leu) rs886062121
NM_022458.4(LMBR1):c.423+4618C>G rs606231146
NM_022458.4(LMBR1):c.423+4808T>C rs606231152
NM_022458.4(LMBR1):c.423+4810G>A rs606231230
NM_022458.4(LMBR1):c.423+4818A>T rs606231148
NM_022458.4(LMBR1):c.423+4842T>C rs606231149
NM_022458.4(LMBR1):c.423+4847T>G rs606231231
NM_022458.4(LMBR1):c.423+4909C>T rs606231153
NM_022458.4(LMBR1):c.423+5134C>G rs606231151
NM_022458.4(LMBR1):c.423+5252A>G rs606231150
NM_022458.4(LMBR1):c.522C>A (p.Asn174Lys) rs756376000
NM_022458.4(LMBR1):c.528C>G (p.Ala176=) rs138255184
NM_022458.4(LMBR1):c.923C>T (p.Ser308Leu) rs1816107259
ZRS, 295T-C
ZRS, 297G-A
ZRS, 328C-G
ZRS, 329T-C
ZRS, 334T-G
ZRS, 396C-T
ZRS, 621C-G
ZRS, 739A-G

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