ClinVar Miner

List of variants reported as uncertain significance 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: 31
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HGVS dbSNP gnomAD frequency
NM_001321120.2(TBX4):c.150C>T (p.Pro50=) rs763175971 0.00008
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.47C>T (p.Ala16Val) rs1470554283 0.00003
NM_001321120.2(TBX4):c.*627T>C rs886053193 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.*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[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.1021G>A (p.Ala341Thr)
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.1215G>T (p.Val405=) rs751591708
NM_001321120.2(TBX4):c.1277C>T (p.Pro426Leu) rs1224135577
NM_001321120.2(TBX4):c.292C>G (p.Pro98Ala) rs2143820895
NM_001321120.2(TBX4):c.401+3A>T rs574516876
NM_001321120.2(TBX4):c.402-3C>G
NM_001321120.2(TBX4):c.524A>C (p.Asn175Thr) rs1603251548
NM_001321120.2(TBX4):c.658C>A (p.Pro220Thr) rs752732593
NM_001321120.2(TBX4):c.759T>A (p.Asp253Glu) rs370445458
NM_001321120.2(TBX4):c.791+11G>T rs368363345

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