ClinVar Miner

List of variants in gene TBX5 reported as pathogenic for Holt-Oram syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.145C>A (p.Gln49Lys) rs104894383 0.00003
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
GRCh37/hg19 12q24.21(chr12:114791609-114793234)
NC_000012.11:g.114795705_114844082dup
NM_000192.3:c.(362+1_363-1)_(*1602_?)del
NM_000192.3:c.(362+1_363-1)_(510+1_511-1)del
NM_000192.3:c.(510+1_511-1)_(663+1_664-1)del
NM_000192.3:c.(663+1_664-1)_(755+1_756-1)del
NM_000192.3:c.(663+1_664-1)_(755+1_756-1)dup
NM_000192.3:c.(982+1_983-1)_(*1602_?)del
NM_000192.3:c.(?_-38)_(242+1_243-1)dup
NM_000192.3:c.(?_-667)_(*1602_?)del
NM_000192.3:c.(?_-667)_(755+1_756-1)dup
NM_000192.3:c.1033_1034dupGA
NM_000192.3:c.67_81delins
NM_000192.3:c.946C>T
NM_181486.4(TBX5):c.1045G>T (p.Glu349Ter) rs1565923887
NM_181486.4(TBX5):c.105del (p.Ser36fs) rs1057516042
NM_181486.4(TBX5):c.105dup (p.Ser36fs) rs1057516042
NM_181486.4(TBX5):c.1074del (p.Pro359fs)
NM_181486.4(TBX5):c.1084C>T (p.Gln362Ter) rs765204502
NM_181486.4(TBX5):c.1158dup (p.Ser387fs) rs1064795870
NM_181486.4(TBX5):c.119C>A (p.Ser40Ter) rs903933027
NM_181486.4(TBX5):c.1203G>A (p.Trp401Ter) rs377649723
NM_181486.4(TBX5):c.1269C>G (p.Tyr423Ter) rs756049331
NM_181486.4(TBX5):c.1303del (p.Leu435fs)
NM_181486.4(TBX5):c.1346del (p.Gln449fs)
NM_181486.4(TBX5):c.148-3C>A
NM_181486.4(TBX5):c.161T>C (p.Ile54Thr) rs104894384
NM_181486.4(TBX5):c.166del (p.Val56fs) rs2136421561
NM_181486.4(TBX5):c.205G>T (p.Glu69Ter) rs104894377
NM_181486.4(TBX5):c.238G>A (p.Gly80Arg) rs104894381
NM_181486.4(TBX5):c.242+1G>T
NM_181486.4(TBX5):c.243-1G>T
NM_181486.4(TBX5):c.246_249del (p.Met83fs) rs1565941587
NM_181486.4(TBX5):c.261C>A (p.Tyr87Ter) rs767197919
NM_181486.4(TBX5):c.262A>T (p.Lys88Ter) rs2136418232
NM_181486.4(TBX5):c.295A>T (p.Lys99Ter) rs1565941529
NM_181486.4(TBX5):c.336del (p.His112fs)
NM_181486.4(TBX5):c.337A>T (p.Arg113Ter) rs1871662633
NM_181486.4(TBX5):c.342C>A (p.Tyr114Ter) rs1565941422
NM_181486.4(TBX5):c.353A>G (p.Asp118Gly)
NM_181486.4(TBX5):c.362+1G>A rs1871659583
NM_181486.4(TBX5):c.408C>A (p.Tyr136Ter) rs104894379
NM_181486.4(TBX5):c.416del (p.Pro139fs) rs1593880204
NM_181486.4(TBX5):c.426del (p.Ala143fs)
NM_181486.4(TBX5):c.444G>A (p.Trp148Ter) rs1555226315
NM_181486.4(TBX5):c.457dup (p.Val153fs)
NM_181486.4(TBX5):c.496del (p.Asp166fs)
NM_181486.4(TBX5):c.500del (p.Pro167fs)
NM_181486.4(TBX5):c.529del (p.His177fs)
NM_181486.4(TBX5):c.537C>A (p.Tyr179Ter) rs1565939337
NM_181486.4(TBX5):c.538del (p.Gln180fs) rs1593876058
NM_181486.4(TBX5):c.559_572dup (p.Asn191fs) rs1565939303
NM_181486.4(TBX5):c.587C>A (p.Ser196Ter) rs886041247
NM_181486.4(TBX5):c.593dup (p.Asn198fs)
NM_181486.4(TBX5):c.635_636del (p.Ile212fs)
NM_181486.4(TBX5):c.668C>T (p.Thr223Met) rs1555225344
NM_181486.4(TBX5):c.672del (p.Gln224fs)
NM_181486.4(TBX5):c.674T>G (p.Leu225Ter) rs1565935432
NM_181486.4(TBX5):c.680_683del (p.Ile227fs) rs1565935410
NM_181486.4(TBX5):c.694T>C (p.Phe232Leu)
NM_181486.4(TBX5):c.703G>T (p.Gly235Ter) rs1565935397
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp) rs104894382
NM_181486.4(TBX5):c.713dup (p.Ser239fs)
NM_181486.4(TBX5):c.728_729del (p.Glu243fs)
NM_181486.4(TBX5):c.73_74insT (p.Asp25fs) rs1565943328
NM_181486.4(TBX5):c.756-2A>G rs1869545659
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter) rs863223788
NM_181486.4(TBX5):c.845C>T (p.Ser282Phe) rs1565927794
NM_181486.4(TBX5):c.868C>T (p.Gln290Ter) rs1565927747
NM_181486.4(TBX5):c.879T>A (p.Cys293Ter) rs1565927740
NM_181486.4(TBX5):c.905del (p.Gln302fs) rs1869529188
NM_181486.4(TBX5):c.924del (p.Asn309fs)
NM_181486.4(TBX5):c.933C>G (p.Tyr311Ter) rs1565927664
NM_181486.4(TBX5):c.943C>T (p.Gln315Ter) rs1565927645
NM_181486.4(TBX5):c.978del (p.Glu328fs)

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