ClinVar Miner

List of variants in gene DOCK8 reported by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.380G>A (p.Arg127His) rs150742426 0.00196
NM_203447.4(DOCK8):c.663C>A (p.Asp221Glu) rs139391329 0.00173
NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val) rs148081681 0.00076
NM_203447.4(DOCK8):c.1193G>A (p.Arg398Gln) rs147287319 0.00040
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_203447.4(DOCK8):c.2749G>A (p.Glu917Lys) rs200899164 0.00030
NM_203447.4(DOCK8):c.2275G>A (p.Val759Met) rs148693111 0.00021
NM_203447.4(DOCK8):c.3220C>A (p.His1074Asn) rs150298985 0.00019
NM_203447.4(DOCK8):c.1588G>A (p.Val530Met) rs373187839 0.00013
NM_203447.4(DOCK8):c.2731A>G (p.Thr911Ala) rs754915792 0.00004
NM_203447.4(DOCK8):c.1220G>A (p.Ser407Asn) rs774744500 0.00001
NM_203447.4(DOCK8):c.1091C>G (p.Pro364Arg) rs781095788
NM_203447.4(DOCK8):c.1910C>T (p.Ala637Val) rs2053282292
NM_203447.4(DOCK8):c.4340C>G (p.Ala1447Gly) rs529920844
NM_203447.4(DOCK8):c.4528C>G (p.Gln1510Glu) rs762051692

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