ClinVar Miner

List of variants in gene WBP11 studied for Vertebral, cardiac, tracheoesophageal, renal, and limb defects

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_016312.3(WBP11):c.1067A>G (p.Asp356Gly)
NM_016312.3(WBP11):c.1521dup (p.Arg508fs)
NM_016312.3(WBP11):c.1559dup (p.Gly521fs) rs767139774
NM_016312.3(WBP11):c.251dup (p.Leu85fs)
NM_016312.3(WBP11):c.280C>T (p.Arg94Ter) rs1949900423
NM_016312.3(WBP11):c.331G>T (p.Glu111Ter) rs2137238267
NM_016312.3(WBP11):c.533G>A (p.Arg178Gln)
NM_016312.3(WBP11):c.620CTC[2] (p.Pro209del)
NM_016312.3(WBP11):c.688C>T (p.Arg230Ter) rs1949866551
NM_016312.3(WBP11):c.734ATG[3] (p.Asp248del)
NM_016312.3(WBP11):c.914G>T (p.Gly305Val)
NM_016312.3(WBP11):c.937A>G (p.Met313Val)

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