List of variants in gene IRF2BPL reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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.2236_2237del (p.Ser746fs)	rs1885086608
NM_024496.4(IRF2BPL):c.349C>T (p.Gln117Ter)	rs1160246842
NM_024496.4(IRF2BPL):c.355C>T (p.Gln119Ter)	rs1223563812
NM_024496.4(IRF2BPL):c.499C>T (p.Gln167Ter)	rs1566786613
NM_024496.4(IRF2BPL):c.519C>G (p.Tyr173Ter)	rs1555377415

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