ClinVar Miner

List of variants studied for Hyper-IgE syndrome

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.828-7A>G rs200243583 0.00030
NM_203447.4(DOCK8):c.5467C>T (p.Pro1823Ser) rs766493394 0.00001
NM_015599.3(PGM3):c.1016AAG[1] (p.Glu340del) rs267608259
NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr) rs267608261
NM_015599.3(PGM3):c.248T>C (p.Leu83Ser) rs267608260
NM_139276.3(STAT3):c.*2340dup rs886052930
NM_139276.3(STAT3):c.*2343_*2344del rs886052928
NM_139276.3(STAT3):c.*2343del rs886052929
NM_139276.3(STAT3):c.*264dup rs554015274
NM_139276.3(STAT3):c.*342GTT[3] rs533596827
NM_139276.3(STAT3):c.*893dup rs754306251
NM_139276.3(STAT3):c.*894del rs373212106
NM_139276.3(STAT3):c.1101C>G (p.Cys367Trp) rs886052942
NM_139276.3(STAT3):c.1234A>T (p.Thr412Ser) rs1567713850
NM_139276.3(STAT3):c.1601-10dup rs3830585
NM_139276.3(STAT3):c.1909G>A (p.Val637Met) rs113994139
NM_139276.3(STAT3):c.1979T>C (p.Met660Thr) rs886039434
NM_203447.3(DOCK8):c.-113C>T rs2236547
NM_203447.4(DOCK8):c.1391C>T (p.Ser464Phe) rs531279290
NM_203447.4(DOCK8):c.3234+15del rs375864618
NM_203447.4(DOCK8):c.3234+15dup rs375864618
NM_203447.4(DOCK8):c.404+16del rs727505303
NM_203447.4(DOCK8):c.6068+11A>C rs886063964

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