List of variants in gene IRF2BPL reported as likely pathogenic by Undiagnosed Diseases Network, NIH

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
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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