ClinVar Miner

List of variants reported as likely pathogenic for Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive

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Total variants: 10
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HGVS dbSNP
NC_000009.11:g.(?_271607)_(328191_?)dup
NC_000009.11:g.(?_271607)_(340341_?)dup
NC_000009.11:g.(?_271627)_(382685_?)dup
NC_000009.11:g.(?_271627)_(399259_?)dup
NC_000009.11:g.(?_286441)_(289601_?)del
NM_203447.3(DOCK8):c.1680-2A>G
NM_203447.3(DOCK8):c.2779-2A>C rs776399238
NM_203447.3(DOCK8):c.3234+2T>C
NM_203447.3(DOCK8):c.3530+1G>A rs1564025732
NM_203447.3(DOCK8):c.54-1G>T rs192864327

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