ClinVar Miner

List of variants reported as likely pathogenic for IRF2BPL-related condition

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Total variants: 5
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NM_024496.4(IRF2BPL):c.1259T>C (p.Phe420Ser) rs1566785990
NM_024496.4(IRF2BPL):c.2122del (p.Ala708fs) rs1566785444
NM_024496.4(IRF2BPL):c.514G>T (p.Glu172Ter) rs1448259271
NM_024496.4(IRF2BPL):c.519C>G (p.Tyr173Ter) rs1555377415
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter) rs1345176461

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