List of variants in gene IRF2BP2 studied for B cell deficiency

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_182972.3(IRF2BP2):c.828G>T (p.Ala276=)	rs4636	0.30211
NM_182972.3(IRF2BP2):c.75C>T (p.Pro25=)	rs76362154	0.02638
NM_182972.3(IRF2BP2):c.1330G>A (p.Ala444Thr)	rs766802305	0.00011
NM_182972.3(IRF2BP2):c.1180A>C (p.Thr394Pro)	rs138385624	0.00006
NM_182972.3(IRF2BP2):c.189C>A (p.His63Gln)	rs754511640	0.00003
NM_182972.3(IRF2BP2):c.-4G>C
NM_182972.3(IRF2BP2):c.1137G>A (p.Trp379Ter)
NM_182972.3(IRF2BP2):c.124_147del (p.Asn42_Val49del)
NM_182972.3(IRF2BP2):c.1520C>T (p.Thr507Ile)
NM_182972.3(IRF2BP2):c.1606C>T (p.Gln536Ter)
NM_182972.3(IRF2BP2):c.1652G>A (p.Ser551Asn)	rs1553319504
NM_182972.3(IRF2BP2):c.1727C>T (p.Ala576Val)
NM_182972.3(IRF2BP2):c.1760C>T (p.Ser587Leu)
NM_182972.3(IRF2BP2):c.535C>G (p.Arg179Gly)	rs1367122613
NM_182972.3(IRF2BP2):c.928C>T (p.Leu310=)	rs1672238574

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