ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005994.4(TBX2):c.1687-22C>T rs2240736 0.66949
NM_005994.4(TBX2):c.1827C>T (p.Ser609=) rs1057987 0.59551
NM_005994.4(TBX2):c.1051+43G>A rs9891115 0.55949
NM_005994.4(TBX2):c.1051+39C>G rs35619711 0.55927
NM_005994.4(TBX2):c.1051+36del rs66504335 0.53283
NM_005994.4(TBX2):c.1212G>A (p.Arg404=) rs140610908 0.00582
NM_005994.4(TBX2):c.910C>G (p.Leu304Val) rs200245762 0.00009
NM_005994.4(TBX2):c.59G>A (p.Arg20Gln) rs1364709483 0.00007
NM_005994.4(TBX2):c.988G>T (p.Ala330Ser) rs113676723 0.00004
NM_005994.4(TBX2):c.1295A>G (p.Lys432Arg) rs1198462287 0.00001
NM_005994.4(TBX2):c.110T>G (p.Phe37Cys) rs2060258573
NM_005994.4(TBX2):c.1276C>A (p.Arg426Ser)
NM_005994.4(TBX2):c.1846C>T (p.Arg616Trp)
NM_005994.4(TBX2):c.1934G>A (p.Gly645Asp) rs2509523160
NM_005994.4(TBX2):c.346G>T (p.Asp116Tyr) rs746678515
NM_005994.4(TBX2):c.431G>T (p.Gly144Val) rs1047408346
NM_005994.4(TBX2):c.481G>A (p.Asp161Asn) rs2509518764
NM_005994.4(TBX2):c.499T>C (p.Phe167Leu) rs2509518787
NM_005994.4(TBX2):c.554G>A (p.Arg185His) rs201793266
NM_005994.4(TBX2):c.887+2T>C rs2143731708
NM_005994.4(TBX2):c.914G>A (p.Arg305His) rs1555877071

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