ClinVar Miner

List of variants studied for hyper-IgE recurrent infection syndrome 1, autosomal dominant by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln) rs113994137 0.00001
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln) rs113994136
NM_139276.3(STAT3):c.1145G>T (p.Arg382Leu) rs113994136
NM_139276.3(STAT3):c.1166C>T (p.Thr389Ile) rs397514766
NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del) rs113994138
NM_139276.3(STAT3):c.1909G>A (p.Val637Met) rs113994139

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