ClinVar Miner

List of variants in gene TBX4 reported as benign for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001321120.2(TBX4):c.402-8G>A rs758596 0.31194
NM_001321120.2(TBX4):c.*707G>T rs3744437 0.28558
NM_001321120.2(TBX4):c.941C>T (p.Ala314Val) rs3744438 0.20760
NM_001321120.2(TBX4):c.276T>G (p.Ala92=) rs3744447 0.17793
NM_001321120.2(TBX4):c.*138A>G rs77924694 0.16157
NM_001321120.2(TBX4):c.17G>C (p.Gly6Ala) rs3744448 0.14894
NM_001321120.2(TBX4):c.1449C>T (p.Val483=) rs2270150 0.12999
NM_001321120.2(TBX4):c.1227C>T (p.Asp409=) rs7218485 0.10322
NM_001321120.2(TBX4):c.*327G>A rs58804550 0.07288
NM_001321120.2(TBX4):c.*759A>G rs59569849 0.01156
NM_001321120.2(TBX4):c.249G>A (p.Ala83=) rs35070263 0.00936
NM_001321120.2(TBX4):c.104C>T (p.Ala35Val) rs148424252 0.00862
NM_001321120.2(TBX4):c.*99T>A rs79894176 0.00557
NM_001321120.2(TBX4):c.*25G>A rs185650741 0.00247
NM_001321120.2(TBX4):c.1515G>A (p.Lys505=) rs117324438 0.00222
NM_001321120.2(TBX4):c.703-8C>T rs188695560 0.00195
NM_001321120.2(TBX4):c.*722C>A rs377432317 0.00145
NM_001321120.2(TBX4):c.16G>A (p.Gly6Ser) rs117410176 0.00133
NM_001321120.2(TBX4):c.*766A>C rs191996071 0.00098
NM_001321120.2(TBX4):c.*7C>T rs149961771 0.00067
NM_001321120.2(TBX4):c.1524G>A (p.Ser508=) rs188952741 0.00065
NM_001321120.2(TBX4):c.921C>T (p.Asn307=) rs141188668 0.00056
NM_001321120.2(TBX4):c.1217C>G (p.Ser406Cys) rs140662248 0.00051
NM_001321120.2(TBX4):c.399A>T (p.Lys133Asn) rs147644451 0.00034
NM_001321120.2(TBX4):c.932C>T (p.Ser311Leu) rs202061937 0.00029
NM_001321120.2(TBX4):c.187-15C>T rs376619036 0.00022
NM_001321120.2(TBX4):c.1086G>C (p.Val362=) rs61739274 0.00021
NM_001321120.2(TBX4):c.595G>A (p.Val199Ile) rs151058527 0.00020
NM_001321120.2(TBX4):c.24C>T (p.Ser8=) rs777880490 0.00009
NM_001321120.2(TBX4):c.791+11G>A rs368363345 0.00006
NM_001321120.2(TBX4):c.*8G>A rs781095471 0.00003
NM_001321120.2(TBX4):c.1623G>A (p.Glu541=) rs762062413 0.00003
NM_001321120.2(TBX4):c.1158G>A (p.Glu386=) rs774920212 0.00002
NM_001321120.2(TBX4):c.1005C>T (p.His335=) rs577197197 0.00001
NM_001321120.2(TBX4):c.172G>A (p.Ala58Thr) rs575407008 0.00001
NM_001321120.2(TBX4):c.622G>A (p.Gly208Ser) rs78640841 0.00001
NM_001321120.2(TBX4):c.*98GT[21] rs149977669
NM_001321120.2(TBX4):c.1113C>G (p.Pro371=) rs140385970

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