List of variants in gene IRF2BPL reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_024496.4(IRF2BPL):c.1250dup (p.Leu417fs)	rs2140377848
NM_024496.4(IRF2BPL):c.1251dup (p.Lys418fs)	rs2140377845
NM_024496.4(IRF2BPL):c.1448G>A (p.Arg483His)	rs1411508959
NM_024496.4(IRF2BPL):c.1627A>T (p.Lys543Ter)
NM_024496.4(IRF2BPL):c.2137del (p.Leu713fs)	rs1885090179
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.358C>T (p.Gln120Ter)	rs1885174753
NM_024496.4(IRF2BPL):c.373C>T (p.Gln125Ter)
NM_024496.4(IRF2BPL):c.499C>T (p.Gln167Ter)	rs1566786613
NM_024496.4(IRF2BPL):c.519C>G (p.Tyr173Ter)	rs1555377415
NM_024496.4(IRF2BPL):c.581_599del (p.Gly194fs)	rs1885159527
NM_024496.4(IRF2BPL):c.584del (p.Gly195fs)

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