ClinVar Miner

List of variants studied for non-syndromic synpolydactyly by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.900C>T (p.Ser300=) rs35961850 0.07677
NM_000168.6(GLI3):c.-42-11G>C rs80019165 0.03314
NM_000168.6(GLI3):c.1029-7C>T rs78280303 0.01279
NM_000168.6(GLI3):c.1029-11C>T rs116195563 0.00867
NM_000168.6(GLI3):c.368-19G>A rs79879393 0.00858
NM_006486.3(FBLN1):c.1690G>A (p.Ala564Thr) rs142867241 0.00691
NM_000168.6(GLI3):c.2802G>A (p.Ala934=) rs61730503 0.00520
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_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_000168.6(GLI3):c.1671C>T (p.Tyr557=) rs143948870 0.00123
NM_000168.6(GLI3):c.501G>A (p.Thr167=) rs149901929 0.00084
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=) rs149860242 0.00076
NM_000168.6(GLI3):c.1647+13G>A rs149955824 0.00066
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_000168.6(GLI3):c.30C>T (p.Thr10=) rs148154157 0.00023
NM_000168.6(GLI3):c.474-4C>T rs74536326 0.00023
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) rs376725882 0.00016
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_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.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_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_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_000523.4(HOXD13):c.170C>T (p.Ala57Val) rs755283984 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_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_000168.6(GLI3):c.199G>A (p.Gly67Arg) rs374123528 0.00003
NM_000168.6(GLI3):c.974G>A (p.Arg325His) rs781356257 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_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564 0.00001
NM_000168.6(GLI3):c.1029-22dup rs559579130
NM_000168.6(GLI3):c.1343C>T (p.Ala448Val) rs912576738
NM_000168.6(GLI3):c.1357-9T>A rs1583801330
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.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.3877C>G (p.Leu1293Val) rs1476153727
NM_000168.6(GLI3):c.4292C>T (p.Pro1431Leu) rs144128064
NM_000168.6(GLI3):c.4597C>A (p.His1533Asn) rs1787103191
NM_000168.6(GLI3):c.4709C>T (p.Ala1570Val) rs41305933
NM_000523.4(HOXD13):c.183_206dup (p.Ala64_Ala71dup) rs756844068
NM_000523.4(HOXD13):c.202G>C (p.Ala68Pro) rs760168666
NM_000523.4(HOXD13):c.296C>G (p.Pro99Arg) rs143487752

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