ClinVar Miner

List of variants in gene TBX20 reported as pathogenic for not provided

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001077653.2(TBX20):c.853G>T (p.Gly285Ter) rs931492981 0.00001
NC_000007.13:g.(?_35271096)_(35293231_?)del
NM_001077653.2(TBX20):c.110del (p.Asn37fs)
NM_001077653.2(TBX20):c.118A>T (p.Lys40Ter) rs2128716604
NM_001077653.2(TBX20):c.139G>T (p.Glu47Ter)
NM_001077653.2(TBX20):c.270dup (p.Ile91fs) rs2128716140
NM_001077653.2(TBX20):c.367dup (p.Thr123fs)
NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter) rs766692577
NM_001077653.2(TBX20):c.403del (p.Val135fs) rs2128715965
NM_001077653.2(TBX20):c.413dup (p.Val140fs)
NM_001077653.2(TBX20):c.418del (p.Val140fs) rs1562567739
NM_001077653.2(TBX20):c.418dup (p.Val140fs) rs1562567739
NM_001077653.2(TBX20):c.484del (p.Tyr162fs)
NM_001077653.2(TBX20):c.486C>A (p.Tyr162Ter)
NM_001077653.2(TBX20):c.490_493dup (p.His165fs)
NM_001077653.2(TBX20):c.512_518del (p.Val171fs)
NM_001077653.2(TBX20):c.526_539del (p.Asp176fs)
NM_001077653.2(TBX20):c.533del (p.Pro178fs)
NM_001077653.2(TBX20):c.552T>G (p.Tyr184Ter)
NM_001077653.2(TBX20):c.595C>T (p.Gln199Ter)
NM_001077653.2(TBX20):c.614del (p.Lys205fs)
NM_001077653.2(TBX20):c.697dup (p.Ile233fs) rs2128714664
NM_001077653.2(TBX20):c.748G>T (p.Glu250Ter)
NM_001077653.2(TBX20):c.776del (p.Thr259fs)
NM_001077653.2(TBX20):c.935C>A (p.Ser312Ter) rs2128709746
NM_001077653.2(TBX20):c.955G>T (p.Gly319Ter)

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