ClinVar Miner

List of variants reported as pathogenic for non-syndromic polydactyly by OMIM

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000523.4(HOXD13):c.32G>C (p.Gly11Ala) rs536639583 0.00154
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.478C>T (p.Arg160Ter) rs368652620 0.00001
GLI3, CODON 764, FS
NC_000007.14:g.156791542A>C rs606231231
NC_000007.14:g.156791548G>C
NC_000007.14:g.156791579C>T rs606231230
NM_000168.6(GLI3):c.2372del (p.Pro791fs) rs1583734240
NM_000168.6(GLI3):c.3646dup (p.Leu1216fs) rs1583729562
NM_000168.6(GLI3):c.868C>T (p.Arg290Ter) rs121917713
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.683G>C (p.Gly228Ala) rs121912541
NM_000523.4(HOXD13):c.683G>T (p.Gly228Val) rs121912541
NM_000523.4(HOXD13):c.742C>T (p.Gln248Ter) rs878854400
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.50T>C (p.Leu17Ser)
NM_001145678.3(KIAA0825):c.591dup (p.Gln198fs) rs1562587032
NM_001759.4(CCND2):c.808A>T (p.Lys270Ter) rs587777619
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_003441.4(ZNF141):c.1421C>T (p.Thr474Ile) rs587776959
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005027.4(PIK3R2):c.1202T>C (p.Leu401Pro) rs587777624
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.686A>G (p.Asn229Ser) rs397514605
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_152558.5(IQCE):c.1350_1353del rs760694987
NM_152558.5(IQCE):c.395-1G>A rs755938967
NM_152558.5(IQCE):c.895_904del (p.Val301fs) rs773701437

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