List of variants in gene IRF2BP2, LOC129932812 studied for hematologic disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_182972.3(IRF2BP2):c.232T>C (p.Ser78Pro)	rs7545855	0.74265
NM_182972.3(IRF2BP2):c.352C>T (p.Pro118Ser)	rs148187914	0.02203
NM_182972.3(IRF2BP2):c.217_244del (p.Pro73fs)
NM_182972.3(IRF2BP2):c.281AGC[6] (p.Gln98dup)	rs371994015
NM_182972.3(IRF2BP2):c.289C>G (p.Gln97Glu)	rs1672270147
NM_182972.3(IRF2BP2):c.314_324del (p.Glu105fs)
NM_182972.3(IRF2BP2):c.314_324dup (p.Ala110fs)
NM_182972.3(IRF2BP2):c.344A>G (p.Glu115Gly)	rs1672267992
NM_182972.3(IRF2BP2):c.352C>G (p.Pro118Ala)	rs148187914
NM_182972.3(IRF2BP2):c.451C>A (p.Pro151Thr)	rs868631595

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.