ClinVar Miner

List of variants in gene DOCK8 reported as likely benign for Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive

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Total variants: 23
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HGVS dbSNP
NM_203447.3(DOCK8):c.1371T>C (p.Val457=) rs145968092
NM_203447.3(DOCK8):c.1788T>C (p.Asn596=) rs1486199563
NM_203447.3(DOCK8):c.2511G>A (p.Leu837=) rs140248537
NM_203447.3(DOCK8):c.2553C>T (p.Tyr851=) rs372565541
NM_203447.3(DOCK8):c.2562C>T (p.Tyr854=) rs376592918
NM_203447.3(DOCK8):c.2971-4G>A rs186097329
NM_203447.3(DOCK8):c.2971-6C>T rs773500215
NM_203447.3(DOCK8):c.3756C>T (p.Ala1252=) rs150935084
NM_203447.3(DOCK8):c.393C>T (p.Ile131=) rs139097471
NM_203447.3(DOCK8):c.405-8C>G rs748853895
NM_203447.3(DOCK8):c.4473+9G>A rs368932755
NM_203447.3(DOCK8):c.4491C>T (p.Phe1497=) rs7854035
NM_203447.3(DOCK8):c.452G>A (p.Arg151Gln) rs149918318
NM_203447.3(DOCK8):c.5058C>T (p.Pro1686=) rs190854825
NM_203447.3(DOCK8):c.5079+7dup rs762095035
NM_203447.3(DOCK8):c.5155G>A (p.Ala1719Thr) rs144279637
NM_203447.3(DOCK8):c.5184G>C (p.Leu1728=) rs371723484
NM_203447.3(DOCK8):c.52A>G (p.Arg18Gly) rs200689054
NM_203447.3(DOCK8):c.580G>A (p.Val194Ile) rs141210649
NM_203447.3(DOCK8):c.5962-16_5962-8del rs767478064
NM_203447.3(DOCK8):c.6068+9G>A rs1554711795
NM_203447.3(DOCK8):c.708C>T (p.Ala236=) rs370735655
NM_203447.3(DOCK8):c.986C>T (p.Ala329Val) rs75352090

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