List of variants in gene TBX2 reported as likely 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)
		ClinVar version:

Total variants: 4

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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.110T>G (p.Phe37Cys)	rs2060258573
NM_005994.4(TBX2):c.499T>C (p.Phe167Leu)	rs2509518787
NM_005994.4(TBX2):c.887+2T>C	rs2143731708

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