List of variants in gene IRF2BPL reported as likely benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_024496.4(IRF2BPL):c.636C>T (p.Asn212=)	rs145413239	0.00235
NM_024496.4(IRF2BPL):c.2203A>T (p.Ser735Cys)	rs141239534	0.00145
NM_024496.4(IRF2BPL):c.387C>T (p.Asn129=)	rs767883776	0.00051
NM_024496.4(IRF2BPL):c.462CGC[11] (p.Ala163_Ala164dup)	rs371633333
NM_024496.4(IRF2BPL):c.462CGC[6] (p.Ala162_Ala164del)	rs371633333
NM_024496.4(IRF2BPL):c.491_492insCGC (p.Ala164dup)	rs780441372

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