ClinVar Miner

List of variants reported as likely benign for Combined immunodeficiency due to DOCK8 deficiency by Illumina Laboratory Services, Illumina

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=) rs13285348 0.00471
NM_203447.4(DOCK8):c.6201A>G (p.Glu2067=) rs145573166 0.00210
NM_203447.4(DOCK8):c.380G>A (p.Arg127His) rs150742426 0.00189
NM_203447.4(DOCK8):c.4158C>T (p.Asn1386=) rs77803650 0.00186
NM_203447.4(DOCK8):c.3606T>C (p.Cys1202=) rs143919622 0.00175
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys) rs34390308 0.00170
NM_203447.4(DOCK8):c.3813A>G (p.Lys1271=) rs75411647 0.00115
NM_203447.4(DOCK8):c.986C>T (p.Ala329Val) rs75352090 0.00056
NM_203447.4(DOCK8):c.5355+6C>T rs188141951 0.00046
NM_203447.4(DOCK8):c.*378G>A rs544124760 0.00040
NM_203447.4(DOCK8):c.5223+4A>G rs117109271 0.00027
NM_203447.4(DOCK8):c.5491-7T>A rs184867151 0.00019
NM_203447.4(DOCK8):c.*175G>C rs567438048 0.00013
NM_203447.4(DOCK8):c.470C>T (p.Thr157Met) rs575314722 0.00011

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