ClinVar Miner

List of variants in gene TBX2 reported as pathogenic for Vertebral anomalies and variable endocrine and T-cell dysfunction

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005994.4(TBX2):c.59G>A (p.Arg20Gln)	rs1364709483	0.00007
NM_005994.4(TBX2):c.914G>A (p.Arg305His)	rs1555877071

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