ClinVar Miner

List of variants studied for coxopodopatellar syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NM_001321120.2(TBX4):c.*136_*139del rs886053189
NM_001321120.2(TBX4):c.*137_*138TA[1] rs60535903
NM_001321120.2(TBX4):c.*138A>G rs77924694
NM_001321120.2(TBX4):c.*252G>C rs886053191
NM_001321120.2(TBX4):c.*25G>A rs185650741
NM_001321120.2(TBX4):c.*313A>C rs141279587
NM_001321120.2(TBX4):c.*327G>A rs58804550
NM_001321120.2(TBX4):c.*383G>T rs886053192
NM_001321120.2(TBX4):c.*627T>C rs886053193
NM_001321120.2(TBX4):c.*661G>A rs886053194
NM_001321120.2(TBX4):c.*707G>T rs3744437
NM_001321120.2(TBX4):c.*722C>A rs377432317
NM_001321120.2(TBX4):c.*766A>C rs191996071
NM_001321120.2(TBX4):c.*7C>T rs149961771
NM_001321120.2(TBX4):c.*98_*99GT[18] rs149977669
NM_001321120.2(TBX4):c.*98_*99GT[21] rs149977669
NM_001321120.2(TBX4):c.*98_*99GT[24] rs149977669
NM_001321120.2(TBX4):c.*98_*99GT[25] rs149977669
NM_001321120.2(TBX4):c.*98_*99GT[26] rs149977669
NM_001321120.2(TBX4):c.*98_*99GT[27] rs149977669
NM_001321120.2(TBX4):c.*99T>A rs79894176
NM_001321120.2(TBX4):c.1005C>T (p.His335=) rs577197197
NM_001321120.2(TBX4):c.104C>T (p.Ala35Val) rs148424252
NM_001321120.2(TBX4):c.1073C>T (p.Ala358Val) rs147641113
NM_001321120.2(TBX4):c.1086G>C (p.Val362=) rs61739274
NM_001321120.2(TBX4):c.108G>T (p.Ala36=) rs886053186
NM_001321120.2(TBX4):c.110C>T (p.Pro37Leu) rs886053187
NM_001321120.2(TBX4):c.1158G>A (p.Glu386=) rs774920212
NM_001321120.2(TBX4):c.1217C>G (p.Ser406Cys) rs140662248
NM_001321120.2(TBX4):c.1227C>T (p.Asp409=) rs7218485
NM_001321120.2(TBX4):c.1449C>T (p.Val483=) rs2270150
NM_001321120.2(TBX4):c.1515G>A (p.Lys505=) rs117324438
NM_001321120.2(TBX4):c.1524G>A (p.Ser508=) rs188952741
NM_001321120.2(TBX4):c.1623G>A (p.Glu541=) rs762062413
NM_001321120.2(TBX4):c.16G>A (p.Gly6Ser) rs117410176
NM_001321120.2(TBX4):c.172G>A (p.Ala58Thr) rs575407008
NM_001321120.2(TBX4):c.17G>C (p.Gly6Ala) rs3744448
NM_001321120.2(TBX4):c.187-15C>T rs376619036
NM_001321120.2(TBX4):c.249G>A (p.Ala83=) rs35070263
NM_001321120.2(TBX4):c.24C>T (p.Ser8=) rs777880490
NM_001321120.2(TBX4):c.276T>G (p.Ala92=) rs3744447
NM_001321120.2(TBX4):c.335A>G (p.Lys112Arg) rs377571192
NM_001321120.2(TBX4):c.402-8G>A rs758596
NM_001321120.2(TBX4):c.622G>A (p.Gly208Ser) rs78640841
NM_001321120.2(TBX4):c.703-8C>T rs188695560
NM_001321120.2(TBX4):c.759T>A (p.Asp253Glu) rs370445458
NM_001321120.2(TBX4):c.791+11G>A rs368363345
NM_001321120.2(TBX4):c.921C>T (p.Asn307=) rs141188668
NM_001321120.2(TBX4):c.932C>T (p.Ser311Leu) rs202061937
NM_001321120.2(TBX4):c.941C>T (p.Ala314Val) rs3744438

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