ClinVar Miner

List of variants reported as pathogenic for non-syndromic polydactyly

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_000523.4(HOXD13):c.32G>C (p.Gly11Ala) rs536639583 0.00154
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_000168.6(GLI3):c.1028+1G>A rs1375768446 0.00001
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564 0.00001
NM_000523.4(HOXD13):c.916C>T (p.Arg306Trp) rs28933082 0.00001
NM_001145678.3(KIAA0825):c.2173A>T (p.Lys725Ter) rs956457873 0.00001
NM_001759.4(CCND2):c.841C>T (p.Pro281Ser) rs587777621 0.00001
NM_001759.4(CCND2):c.842C>T (p.Pro281Leu) rs587777622 0.00001
NM_005269.3(GLI1):c.1517T>A (p.Leu506Gln) rs753690500 0.00001
NM_022458.4(LMBR1):c.423+4915C>T rs587779752 0.00001
NM_145269.5(CIBAR1):c.364C>T (p.Arg122Ter) rs373275688 0.00001
NM_145269.5(CIBAR1):c.478C>T (p.Arg160Ter) rs368652620 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
GLI3, CODON 764, FS
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1
NC_000001.10:g.(?_243652296)_(243859038_?)del
NC_000007.14:g.156791257G>A
NC_000007.14:g.156791542A>C rs606231231
NC_000007.14:g.156791548G>C
NC_000007.14:g.156791579C>T rs606231230
NC_012920.1(MT-ATP6):m.8993T>G rs199476133
NM_000168.6(GLI3):c.1033_1048del (p.Ala345fs) rs2128732140
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.2003C>T (p.Pro668Leu)
NM_000168.6(GLI3):c.2059del (p.Glu687fs) rs2128709905
NM_000168.6(GLI3):c.2103+2T>A rs2128709879
NM_000168.6(GLI3):c.2128C>T (p.Gln710Ter)
NM_000168.6(GLI3):c.2252del (p.Asp751fs) rs1057518698
NM_000168.6(GLI3):c.2372del (p.Pro791fs) rs1583734240
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter) rs121917714
NM_000168.6(GLI3):c.2594C>G (p.Ser865Ter) rs2128706319
NM_000168.6(GLI3):c.3635del (p.Gly1212fs) rs1060499558
NM_000168.6(GLI3):c.3646dup (p.Leu1216fs) rs1583729562
NM_000168.6(GLI3):c.366C>A (p.Tyr122Ter) rs1366557334
NM_000168.6(GLI3):c.438C>G (p.Tyr146Ter) rs151222023
NM_000168.6(GLI3):c.4564del (p.Ala1522fs)
NM_000168.6(GLI3):c.473+5G>A rs1784885465
NM_000168.6(GLI3):c.650C>G (p.Ser217Ter) rs2128742651
NM_000168.6(GLI3):c.868C>T (p.Arg290Ter) rs121917713
NM_000168.6(GLI3):c.999_1002dup (p.Gly335fs)
NM_000264.5(PTCH1):c.2265_2268del (p.Leu756fs) rs1840113211
NM_000523.4(HOXD13):c.183_206dup (p.Ala64_Ala71dup) rs756844068
NM_000523.4(HOXD13):c.209_210insGGCTGCGGCGGCGGCAGCGGC (p.Ala65_Ala71dup) rs878854345
NM_000523.4(HOXD13):c.212_213insGGCGGCTGCGGCGGCGGCAGCGGCAGC (p.Ala63_Ala71dup) rs775525473
NM_000523.4(HOXD13):c.323_336del (p.Pro108fs) rs878854343
NM_000523.4(HOXD13):c.673del (p.Ser225fs)
NM_000523.4(HOXD13):c.683G>C (p.Gly228Ala) rs121912541
NM_000523.4(HOXD13):c.683G>T (p.Gly228Val) rs121912541
NM_000523.4(HOXD13):c.708del (p.Asn236fs) rs2105379203
NM_000523.4(HOXD13):c.742C>T (p.Gln248Ter) rs878854400
NM_000523.4(HOXD13):c.744_747del (p.Gln248fs) rs1574943406
NM_000523.4(HOXD13):c.781+1G>A rs886037831
NM_000523.4(HOXD13):c.782-2del rs764838478
NM_000523.4(HOXD13):c.834del (p.Lys279fs) rs878854344
NM_000523.4(HOXD13):c.916C>G (p.Arg306Gly) rs28933082
NM_000523.4(HOXD13):c.917G>A (p.Arg306Gln) rs879255265
NM_001145678.3(KIAA0825):c.3101_3107del (p.Leu1034fs)
NM_001145678.3(KIAA0825):c.3451_3456+13del
NM_001145678.3(KIAA0825):c.50T>C (p.Leu17Ser)
NM_001145678.3(KIAA0825):c.591dup (p.Gln198fs) rs1562587032
NM_001195305.3(BBIP1):c.109C>T (p.Gln37Ter) rs1590746439
NM_001378615.1(CC2D2A):c.1149+1G>A rs1553827236
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001429.4(EP300):c.2817+186_3262-187delinsTG
NM_001692.4(ATP6V1B1):c.175-1G>C rs1572919267
NM_001759.4(CCND2):c.808A>T (p.Lys270Ter) rs587777619
NM_001759.4(CCND2):c.838A>C (p.Thr280Pro)
NM_001759.4(CCND2):c.838A>G (p.Thr280Ala) rs587777618
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn) rs587777620
NM_001759.4(CCND2):c.842C>G (p.Pro281Arg) rs587777622
NM_001759.4(CCND2):c.851T>A (p.Val284Glu) rs777786993
NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) rs387906836
NM_003441.4(ZNF141):c.1421C>T (p.Thr474Ile) rs587776959
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005027.4(PIK3R2):c.1126A>G (p.Lys376Glu) rs886041591
NM_005027.4(PIK3R2):c.1153G>A (p.Gly385Arg) rs2043767578
NM_005027.4(PIK3R2):c.1202T>C (p.Leu401Pro) rs587777624
NM_005269.3(GLI1):c.1013G>T (p.Cys338Phe)
NM_005269.3(GLI1):c.1930C>T (p.Gln644Ter) rs1565601979
NM_005269.3(GLI1):c.2340G>A (p.Trp780Ter) rs1309855392
NM_005269.3(GLI1):c.337C>T (p.Arg113Ter) rs748321474
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005465.7(AKT3):c.49G>A (p.Glu17Lys) rs397514606
NM_005465.7(AKT3):c.538A>G (p.Lys180Glu) rs2147812145
NM_005465.7(AKT3):c.686A>G (p.Asn229Ser) rs397514605
NM_005465.7(AKT3):c.963T>G (p.Asn321Lys) rs1673171921
NM_022458.4(LMBR1):c.423+4618C>G rs606231146
NM_022458.4(LMBR1):c.423+4808T>C rs606231152
NM_022458.4(LMBR1):c.423+4818A>T rs606231148
NM_022458.4(LMBR1):c.423+4842T>C rs606231149
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_022893.4(BCL11A):c.148C>T (p.Gln50Ter) rs1670145015
NM_152558.5(IQCE):c.1350_1353del rs760694987
NM_152558.5(IQCE):c.1493G>A (p.Trp498Ter)
NM_152558.5(IQCE):c.1540del (p.Cys514fs)
NM_152558.5(IQCE):c.395-1G>A rs755938967
NM_152558.5(IQCE):c.895_904del (p.Val301fs) rs773701437
Single allele

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