ClinVar Miner

List of variants reported as likely benign for combined immunodeficiency due to DOCK8 deficiency

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00865
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=) rs13285348 0.00471
NM_203447.4(DOCK8):c.6201A>G (p.Glu2067=) rs145573166 0.00221
NM_203447.4(DOCK8):c.380G>A (p.Arg127His) rs150742426 0.00196
NM_203447.4(DOCK8):c.4158C>T (p.Asn1386=) rs77803650 0.00195
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 0.00055
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 0.00017
NM_203447.4(DOCK8):c.5491-7T>A rs184867151 0.00010
NM_203447.4(DOCK8):c.2229C>T (p.Phe743=) rs754633797 0.00005
NM_203447.4(DOCK8):c.5620G>A (p.Glu1874Lys) rs779199376 0.00002
NM_203447.4(DOCK8):c.3700+10C>T rs530149048 0.00001
NM_203447.4(DOCK8):c.470C>T (p.Thr157Met) rs575314722 0.00001
NM_203447.4(DOCK8):c.5334C>A (p.Ala1778=) rs1226452399 0.00001
NM_203447.4(DOCK8):c.*175G>C rs567438048
NM_203447.4(DOCK8):c.1155C>A (p.Leu385=) rs1036046353
NM_203447.4(DOCK8):c.3235-4C>A rs537151232
NM_203447.4(DOCK8):c.6068+9G>A rs1554711795

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