ClinVar Miner

List of variants reported as uncertain significance for GP130-deficient hyper-IgE syndrome by Undiagnosed Diseases Network, NIH

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002184.4(IL6ST):c.1549G>C (p.Ala517Pro) rs1381682599 0.00004
NM_002184.4(IL6ST):c.1552+3A>C rs1580801563

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