List of variants reported as pathogenic for hyper-IgE recurrent infection syndrome 4A, autosomal dominant

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002184.4(IL6ST):c.2121del (p.Asp707_Leu708insTer)	rs1750932254
NM_002184.4(IL6ST):c.2155dup (p.Ile719fs)	rs2111587824
NM_002184.4(IL6ST):c.2277T>G (p.Tyr759Ter)	rs2111585826
NM_002184.4(IL6ST):c.2277_2281dup (p.Thr761fs)	rs2111585708

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