ClinVar Miner

List of variants in gene TBX22 studied for Abruzzo-Erickson syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001109878.2(TBX22):c.949+12T>G rs151121450 0.01780
NM_001109878.2(TBX22):c.459-5T>A rs200060292 0.00020
NM_001109878.2(TBX22):c.452G>T (p.Arg151Leu) rs368136178

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