ClinVar Miner

List of variants reported as uncertain significance for preaxial polydactyly of fingers

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 93
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022458.4(LMBR1):c.-176G>A rs886062124 0.00170
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.*1841T>A rs1012360796 0.00034
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_022458.4(LMBR1):c.*2500A>G rs566692462 0.00013
NM_022458.4(LMBR1):c.*728G>A rs886062116 0.00012
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.3734A>G (p.His1245Arg) rs372740903 0.00009
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln) rs140772904 0.00009
NM_022458.4(LMBR1):c.*1608C>T rs749633714 0.00009
NM_022458.4(LMBR1):c.*1172C>T rs1163939803 0.00007
NM_000168.6(GLI3):c.223C>G (p.Pro75Ala) rs369237977 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.*2706A>G rs775444879 0.00006
NM_000168.6(GLI3):c.2174A>C (p.Asn725Thr) rs749807129 0.00005
NM_022458.4(LMBR1):c.*2088C>T rs185766032 0.00005
NM_000168.6(GLI3):c.1540G>A (p.Val514Met) rs148502119 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.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.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.2520G>A (p.Met840Ile) rs1283743237 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.3278C>T (p.Pro1093Leu) rs777149082 0.00001
NM_000168.6(GLI3):c.3557C>T (p.Pro1186Leu) rs541487979 0.00001
NM_000168.6(GLI3):c.4187C>A (p.Ala1396Asp) rs373003816 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.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.1343C>T (p.Ala448Val) rs912576738
NM_000168.6(GLI3):c.2000G>T (p.Arg667Leu) rs373926115
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_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.*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.1111T>G (p.Phe371Val) rs886062120
NM_022458.4(LMBR1):c.240C>G (p.Phe80Leu) rs886062121
NM_022458.4(LMBR1):c.522C>A (p.Asn174Lys) rs756376000
NM_022458.4(LMBR1):c.923C>T (p.Ser308Leu) rs1816107259

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.