ClinVar Miner

List of variants studied for obsolete patella aplasia, coxa vara, and tarsal synostosis

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_001321120.2(TBX4):c.*707G>T rs3744437 0.31238
NM_001321120.2(TBX4):c.402-8G>A rs758596 0.31194
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 0.17693
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.*313A>C rs141279587 0.01129
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.1105C>T (p.Arg369Cys) rs372115732 0.00008
NM_001321120.2(TBX4):c.150C>T (p.Pro50=) rs763175971 0.00008
NM_001321120.2(TBX4):c.791+11G>A rs368363345 0.00006
NM_001321120.2(TBX4):c.335A>G (p.Lys112Arg) rs377571192 0.00004
NM_001321120.2(TBX4):c.*383G>T rs886053192 0.00003
NM_001321120.2(TBX4):c.*661G>A rs886053194 0.00003
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.47C>T (p.Ala16Val) rs1470554283 0.00003
NM_001321120.2(TBX4):c.1073C>T (p.Ala358Val) rs147641113 0.00002
NM_001321120.2(TBX4):c.1158G>A (p.Glu386=) rs774920212 0.00002
NM_001321120.2(TBX4):c.316G>A (p.Gly106Ser) rs200429513 0.00002
NM_001321120.2(TBX4):c.*627T>C rs886053193 0.00001
NM_001321120.2(TBX4):c.1005C>T (p.His335=) rs577197197 0.00001
NM_001321120.2(TBX4):c.108G>T (p.Ala36=) rs886053186 0.00001
NM_001321120.2(TBX4):c.1401A>G (p.Pro467=) rs766266920 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.781C>T (p.Arg261Ter) rs774711057 0.00001
NM_001321120.2(TBX4):c.*136_*139del rs886053189
NM_001321120.2(TBX4):c.*137TA[1] rs60535903
NM_001321120.2(TBX4):c.*252G>C rs886053191
NM_001321120.2(TBX4):c.*409G>A rs2060686079
NM_001321120.2(TBX4):c.*428G>A rs892751603
NM_001321120.2(TBX4):c.*607G>T rs1466455515
NM_001321120.2(TBX4):c.*98GT[18] rs149977669
NM_001321120.2(TBX4):c.*98GT[21] rs149977669
NM_001321120.2(TBX4):c.*98GT[24] rs149977669
NM_001321120.2(TBX4):c.*98GT[25] rs149977669
NM_001321120.2(TBX4):c.*98GT[26] rs149977669
NM_001321120.2(TBX4):c.*98GT[27] rs149977669
NM_001321120.2(TBX4):c.1021+1G>A rs1428934331
NM_001321120.2(TBX4):c.1021G>A (p.Ala341Thr)
NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter) rs1603256040
NM_001321120.2(TBX4):c.1065T>G (p.Tyr355Ter) rs2143870166
NM_001321120.2(TBX4):c.1090del (p.Glu364fs) rs2060675350
NM_001321120.2(TBX4):c.1109C>A (p.Ser370Tyr) rs2060675576
NM_001321120.2(TBX4):c.110C>T (p.Pro37Leu) rs886053187
NM_001321120.2(TBX4):c.1113C>G (p.Pro371=) rs140385970
NM_001321120.2(TBX4):c.1115dup (p.Pro373fs) rs754897911
NM_001321120.2(TBX4):c.113dup (p.Leu39fs) rs2143792404
NM_001321120.2(TBX4):c.1167dup (p.Arg390fs) rs1569046598
NM_001321120.2(TBX4):c.1215G>T (p.Val405=) rs751591708
NM_001321120.2(TBX4):c.1277C>T (p.Pro426Leu) rs1224135577
NM_001321120.2(TBX4):c.1595A>G (p.Gln532Arg) rs28936696
NM_001321120.2(TBX4):c.184C>T (p.Gln62Ter) rs104894648
NM_001321120.2(TBX4):c.251del (p.Gly84fs) rs1603248606
NM_001321120.2(TBX4):c.271A>G (p.Lys91Glu)
NM_001321120.2(TBX4):c.281+1G>T rs1555881112
NM_001321120.2(TBX4):c.287T>A (p.Met96Lys) rs2143820885
NM_001321120.2(TBX4):c.292C>G (p.Pro98Ala) rs2143820895
NM_001321120.2(TBX4):c.338A>G (p.Tyr113Cys) rs2143821059
NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter) rs1603251001
NM_001321120.2(TBX4):c.355dup (p.Ile119fs) rs1569036773
NM_001321120.2(TBX4):c.3G>A (p.Met1Ile) rs868469301
NM_001321120.2(TBX4):c.401+3A>T rs574516876
NM_001321120.2(TBX4):c.402-3C>G
NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter) rs1603251494
NM_001321120.2(TBX4):c.524A>C (p.Asn175Thr) rs1603251548
NM_001321120.2(TBX4):c.538_547del (p.Pro180fs) rs1555882291
NM_001321120.2(TBX4):c.549+1G>A
NM_001321120.2(TBX4):c.557T>G (p.Leu186Arg) rs886041115
NM_001321120.2(TBX4):c.658C>A (p.Pro220Thr) rs752732593
NM_001321120.2(TBX4):c.743G>T (p.Gly248Val) rs28938474
NM_001321120.2(TBX4):c.748C>T (p.Arg250Trp) rs2143860927
NM_001321120.2(TBX4):c.759T>A (p.Asp253Glu) rs370445458
NM_001321120.2(TBX4):c.791+11G>T rs368363345
NM_001321120.2(TBX4):c.792-1G>C rs1603255224
NM_001321120.2(TBX4):c.901C>T (p.Gln301Ter) rs2143862349
NM_001321120.2(TBX4):c.932C>A (p.Ser311Ter) rs202061937
NM_001321120.2(TBX4):c.979C>T (p.Gln327Ter) rs2060654742

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