ClinVar Miner

List of variants reported as uncertain significance 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: 18
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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.*252G>C rs886053191
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.*98_*99GT[18] 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.1073C>T (p.Ala358Val) rs147641113
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.24C>T (p.Ser8=) rs777880490
NM_001321120.2(TBX4):c.335A>G (p.Lys112Arg) rs377571192
NM_001321120.2(TBX4):c.759T>A (p.Asp253Glu) rs370445458
NM_001321120.2(TBX4):c.791+11G>A rs368363345

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