ClinVar Miner

List of variants in gene TBX3 reported as benign for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_005996.4(TBX3):c.*739A>G rs8853 0.51729
NM_005996.4(TBX3):c.390-46C>T rs515746 0.48181
NM_005996.4(TBX3):c.*423G>C rs3741698 0.33707
NM_005996.4(TBX3):c.*1510A>G rs1061657 0.22845
NM_005996.4(TBX3):c.-184C>T rs2242442 0.19780
NM_005996.4(TBX3):c.-198T>C rs12366395 0.15221
NM_005996.4(TBX3):c.*747G>A rs3741695 0.05280
NM_005996.4(TBX3):c.*132G>A rs79564336 0.04771
NM_005996.4(TBX3):c.-727T>C rs36203374 0.03582
NM_005996.4(TBX3):c.1126T>A (p.Ser376Thr) rs78115331 0.03014
NM_005996.4(TBX3):c.*245C>T rs77971713 0.02102
NM_005996.4(TBX3):c.1173G>C (p.Ala391=) rs146589414 0.01711
NM_005996.4(TBX3):c.619C>T (p.Leu207=) rs35069811 0.01702
NM_005996.4(TBX3):c.-417T>G rs36202980 0.01386
NM_005996.4(TBX3):c.2082A>G (p.Lys694=) rs34831817 0.01295
NM_005996.4(TBX3):c.*1340G>A rs61933121 0.01217
NM_005996.4(TBX3):c.777C>T (p.Ile259=) rs34627348 0.01205
NM_005996.4(TBX3):c.1094A>G (p.His365Arg) rs141004177 0.00944
NM_005996.4(TBX3):c.61C>T (p.Leu21=) rs142592809 0.00685
NM_005996.4(TBX3):c.*571C>G rs3741697 0.00668
NM_005996.4(TBX3):c.*1264C>G rs146480305 0.00652
NM_005996.4(TBX3):c.*25T>A rs141350926 0.00401
NM_005996.4(TBX3):c.-29G>T rs56112787 0.00356
NM_005996.4(TBX3):c.*12A>T rs150286184 0.00354
NM_005996.4(TBX3):c.1653C>T (p.Ser551=) rs201695541 0.00346
NM_005996.4(TBX3):c.-251G>A rs9805019 0.00310
NM_005996.4(TBX3):c.*366A>T rs184058660 0.00290
NM_005996.4(TBX3):c.1236G>T (p.Ser412=) rs62640916 0.00282
NM_005996.4(TBX3):c.*1224T>C rs141045947 0.00271
NM_005996.4(TBX3):c.*1312T>C rs77412687 0.00262
NM_005996.4(TBX3):c.1899C>T (p.Ser633=) rs200569006 0.00204
NM_005996.4(TBX3):c.1095T>C (p.His365=) rs14175 0.00135
NM_005996.4(TBX3):c.171G>A (p.Pro57=) rs201388921 0.00108
NM_005996.4(TBX3):c.1783T>G (p.Ser595Ala) rs763473739 0.00085
NM_005996.4(TBX3):c.2145G>T (p.Pro715=) rs142609038 0.00046
NM_005996.4(TBX3):c.1625C>T (p.Ala542Val) rs201325654 0.00036
NM_005996.4(TBX3):c.-366G>T rs527797282 0.00030
NM_005996.4(TBX3):c.1974C>T (p.Ala658=) rs370307666 0.00022
NM_005996.4(TBX3):c.*397A>C rs3741699 0.00021
NM_005996.4(TBX3):c.700A>G (p.Ile234Val) rs117465019 0.00021
NM_005996.4(TBX3):c.1768G>A (p.Ala590Thr) rs751628989 0.00014
NM_005996.4(TBX3):c.789A>G (p.Ala263=) rs754665748 0.00012
NM_005996.4(TBX3):c.1527C>A (p.Gly509=) rs764271389 0.00009
NM_005996.4(TBX3):c.1671C>G (p.Thr557=) rs548288032 0.00006
NM_005996.4(TBX3):c.-331T>C rs562724016 0.00004
NM_005996.4(TBX3):c.126C>T (p.Pro42=) rs770418304 0.00003
NM_005996.4(TBX3):c.1971G>A (p.Leu657=) rs757640161 0.00003
NM_005996.4(TBX3):c.-909C>T rs527781972 0.00001
NM_005996.4(TBX3):c.1011C>T (p.Ala337=) rs745496316 0.00001
NM_005996.4(TBX3):c.309C>T (p.Pro103=) rs534364535 0.00001
NM_005996.4(TBX3):c.*1285A>G rs1061651
NM_005996.4(TBX3):c.-591del rs11356115
NM_005996.4(TBX3):c.-895TC[14] rs57078153
NM_005996.4(TBX3):c.1101C>G (p.Pro367=) rs761242306
NM_005996.4(TBX3):c.881+14_881+17del rs139956231

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