List of variants in gene combination LOC130060888, STAT3 reported as likely benign for Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function

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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: 18

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HGVS	dbSNP	gnomAD frequency
NM_139276.3(STAT3):c.681G>A (p.Ala227=)	rs775680553	0.00013
NM_139276.3(STAT3):c.690C>T (p.Tyr230=)	rs746151758	0.00003
NM_139276.3(STAT3):c.765G>A (p.Pro255=)	rs527634708	0.00003
NM_139276.3(STAT3):c.646-8C>A	rs750761706	0.00002
NM_139276.3(STAT3):c.646-13G>T	rs971177362	0.00001
NM_139276.3(STAT3):c.646-7C>T	rs993067731	0.00001
NM_139276.3(STAT3):c.651C>T (p.Ile217=)	rs377095381	0.00001
NM_139276.3(STAT3):c.657T>C (p.Ser219=)	rs886052943	0.00001
NM_139276.3(STAT3):c.746T>C (p.Ile249Thr)	rs767159289	0.00001
NM_139276.3(STAT3):c.652G>C (p.Val218Leu)	rs1325088493
NM_139276.3(STAT3):c.708G>C (p.Thr236=)	rs1007672644
NM_139276.3(STAT3):c.720G>A (p.Leu240=)	rs1254240739
NM_139276.3(STAT3):c.726C>A (p.Asp242Glu)
NM_139276.3(STAT3):c.750C>T (p.Ala250=)	rs898575440
NM_139276.3(STAT3):c.785G>A (p.Arg262Gln)	rs1451984094
NM_139276.3(STAT3):c.797+13A>G	rs2509430631
NM_139276.3(STAT3):c.797+17G>A	rs2509430499
NM_139276.3(STAT3):c.797+18C>T	rs2509430473

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