ClinVar Miner

List of variants studied for combined immunodeficiency due to DOCK8 deficiency by Genome-Nilou Lab

Included ClinVar conditions (1):
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.4491T>C (p.Phe1497=) rs7854035 0.99726
NM_203447.4(DOCK8):c.2605+30T>C rs10758420 0.93542
NM_203447.4(DOCK8):c.5961+133A>G rs10121936 0.83292
NM_203447.4(DOCK8):c.5433G>A (p.Glu1811=) rs1887957 0.75495
NM_203447.4(DOCK8):c.5356-48C>T rs10974467 0.71940
NM_203447.4(DOCK8):c.4785+6C>G rs7036567 0.70190
NM_203447.4(DOCK8):c.4886+3A>G rs2360712 0.69369
NM_203447.4(DOCK8):c.4627-85T>C rs1329377 0.68824
NM_203447.4(DOCK8):c.894+74_894+75insC rs3831138 0.67848
NM_203447.4(DOCK8):c.895-16T>C rs2296828 0.66765
NM_203447.4(DOCK8):c.895-84G>C rs2296825 0.63039
NM_203447.4(DOCK8):c.4241+22T>C rs10217719 0.57971
NM_203447.4(DOCK8):c.5223+65G>C rs10758598 0.57714
NM_203447.4(DOCK8):c.2206-48A>G rs7020921 0.53910
NM_203447.4(DOCK8):c.289C>A (p.Pro97Thr) rs529208 0.47790
NM_203447.4(DOCK8):c.4107C>G (p.Leu1369=) rs2297079 0.44487
NM_203447.4(DOCK8):c.4154-68T>A rs2297081 0.43281
NM_203447.4(DOCK8):c.895-65T>G rs2296826 0.36072
NM_203447.4(DOCK8):c.65C>T (p.Ala22Val) rs506121 0.32449
NM_203447.4(DOCK8):c.1238A>G (p.Asn413Ser) rs10970979 0.24995
NM_203447.4(DOCK8):c.1423-100G>A rs12340920 0.21365
NM_203447.4(DOCK8):c.6068+32G>C rs16909246 0.12477
NM_203447.4(DOCK8):c.5080-143G>C rs10733508
NM_203447.4(DOCK8):c.5223+79A>C rs10217568
NM_203447.4(DOCK8):c.5490+21C>T rs1887958
NM_203447.4(DOCK8):c.5581-18G>C rs10814952
NM_203447.4(DOCK8):c.699T>C (p.Asn233=) rs2039045

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