ClinVar Miner

List of variants in gene TBX5 reported as likely pathogenic by Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.301A>T (p.Ile101Phe) rs515726234

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