ClinVar Miner

List of variants in gene TBX5 reported as pathogenic for familial bicuspid aortic valve

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NC_000012.11:g.(?_114793317)_(114841723_?)del
NC_000012.11:g.(?_114793327)_(114793921_?)del
NC_000012.11:g.(?_114793337)_(114837457_?)del
NC_000012.11:g.(?_114803950)_(114804216_?)dup
NC_000012.11:g.(?_114823261)_(114823392_?)del
NC_000012.11:g.(?_114837390)_(114846189_?)del
NC_000012.12:g.(?_114394721)_(114394913_?)del
NC_000012.12:g.(?_114401806)_(114401940_?)del
NC_000012.12:g.(?_114401816)_(114401930_?)del
NM_181486.4(TBX5):c.100dup (p.Ala34fs)
NM_181486.4(TBX5):c.1012del (p.Tyr338fs) rs2136360335
NM_181486.4(TBX5):c.1037C>A (p.Ser346Ter) rs2136360259
NM_181486.4(TBX5):c.105del (p.Ser36fs) rs1057516042
NM_181486.4(TBX5):c.1104C>G (p.Tyr368Ter) rs1565923835
NM_181486.4(TBX5):c.1115_1116delinsAGGCGCTCCTACA (p.Ser372Ter) rs1593836748
NM_181486.4(TBX5):c.116del (p.Pro39fs)
NM_181486.4(TBX5):c.142C>T (p.Gln48Ter) rs863223777
NM_181486.4(TBX5):c.148-2A>C
NM_181486.4(TBX5):c.154G>T (p.Glu52Ter) rs1208004863
NM_181486.4(TBX5):c.163_172del (p.Lys55fs) rs1593883930
NM_181486.4(TBX5):c.238_239delinsT (p.Ala79_Gly80insTer) rs1871830996
NM_181486.4(TBX5):c.239G>A (p.Gly80Glu) rs1871830806
NM_181486.4(TBX5):c.243-2A>G rs2136418310
NM_181486.4(TBX5):c.246del (p.Met83fs) rs1871673161
NM_181486.4(TBX5):c.252T>A (p.Phe84Leu) rs2136418265
NM_181486.4(TBX5):c.278dup (p.Leu94fs) rs1555226420
NM_181486.4(TBX5):c.341dup (p.Tyr114Ter) rs2136418056
NM_181486.4(TBX5):c.362+2T>C rs1593881162
NM_181486.4(TBX5):c.383_386dup (p.Met131fs) rs2136416963
NM_181486.4(TBX5):c.390del (p.Met131fs) rs1565941046
NM_181486.4(TBX5):c.400del (p.Arg134fs) rs1408227928
NM_181486.4(TBX5):c.432dup (p.Gly145fs) rs1555226322
NM_181486.4(TBX5):c.443G>A (p.Trp148Ter) rs1060503154
NM_181486.4(TBX5):c.456del (p.Val153fs) rs1057520136
NM_181486.4(TBX5):c.484A>G (p.Asn162Asp) rs1871568678
NM_181486.4(TBX5):c.511-1G>C rs2136411098
NM_181486.4(TBX5):c.587C>A (p.Ser196Ter) rs886041247
NM_181486.4(TBX5):c.593del (p.Asn198fs) rs1565939215
NM_181486.4(TBX5):c.593dup (p.Asn198fs)
NM_181486.4(TBX5):c.594dup (p.Thr199fs)
NM_181486.4(TBX5):c.595dup (p.Thr199fs) rs1555226005
NM_181486.4(TBX5):c.611dup (p.His204fs) rs863223786
NM_181486.4(TBX5):c.629_632dup (p.Ile212fs) rs1555225989
NM_181486.4(TBX5):c.652C>T (p.Gln218Ter) rs2136410724
NM_181486.4(TBX5):c.663+1G>A rs1871328488
NM_181486.4(TBX5):c.668C>T (p.Thr223Met) rs1555225344
NM_181486.4(TBX5):c.691C>T (p.Pro231Ser) rs2136397905
NM_181486.4(TBX5):c.69del (p.Cys24fs) rs1872004016
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp) rs104894382
NM_181486.4(TBX5):c.727del (p.Glu243fs) rs1870762150
NM_181486.4(TBX5):c.755+1G>A
NM_181486.4(TBX5):c.755+1G>T rs2136397746
NM_181486.4(TBX5):c.760G>T (p.Glu254Ter) rs2136373802
NM_181486.4(TBX5):c.765T>A (p.Tyr255Ter) rs2136373795
NM_181486.4(TBX5):c.813_814del (p.His271fs) rs1869539814
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter) rs863223788
NM_181486.4(TBX5):c.853_865del (p.Ser285fs)
NM_181486.4(TBX5):c.868C>T (p.Gln290Ter) rs1565927747
NM_181486.4(TBX5):c.884del (p.Asn295fs)
NM_181486.4(TBX5):c.920del (p.Pro307fs)
NM_181486.4(TBX5):c.926_927del (p.Asn309fs) rs1593847163
NM_181486.4(TBX5):c.958del (p.Ile320fs) rs878853750
NM_181486.4(TBX5):c.982+1G>A rs2136373207
NM_181486.4(TBX5):c.982+2T>G rs2136373205

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