List of variants in gene IRF2BPL reported as uncertain significance for IRF2BPL-related disorder

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_024496.4(IRF2BPL):c.1930A>G (p.Ser644Gly)	rs1566785567	0.00001
NM_024496.4(IRF2BPL):c.1707G>C (p.Trp569Cys)	rs2503075170
NM_024496.4(IRF2BPL):c.1748C>G (p.Ala583Gly)
NM_024496.4(IRF2BPL):c.1801C>T (p.Pro601Ser)	rs1028168166
NM_024496.4(IRF2BPL):c.1862C>T (p.Pro621Leu)	rs2503074857
NM_024496.4(IRF2BPL):c.2200C>T (p.Pro734Ser)	rs1885088030
NM_024496.4(IRF2BPL):c.2387C>T (p.Pro796Leu)	rs1885081272
NM_024496.4(IRF2BPL):c.489_491dup (p.Ala164_Val165insAla)	rs772565832
NM_024496.4(IRF2BPL):c.489delinsCGCGCGCCGC (p.Ala164_Val165insArgArgAla)	rs2503078137
NM_024496.4(IRF2BPL):c.862G>C (p.Ala288Pro)

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