ClinVar Miner

List of variants in gene DOCK8 reported as pathogenic for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter) rs372598000 0.00001
NM_203447.4(DOCK8):c.1498C>T (p.Arg500Ter) rs770748316 0.00001
NM_203447.4(DOCK8):c.2971-1G>A rs777066716 0.00001
NM_203447.4(DOCK8):c.3494del (p.Thr1165fs) rs113944762 0.00001
NM_203447.4(DOCK8):c.850_851del (p.Leu284fs) rs762990689 0.00001
NM_203447.4(DOCK8):c.949C>T (p.Arg317Ter) rs113432057 0.00001
NC_000009.11:g.(332479_334224)_(422136_426884)del
NC_000009.11:g.(?_214957)_(286656_?)del
NC_000009.11:g.(?_214977)_(215049_?)del
NC_000009.11:g.(?_214977)_(340341_?)del
NC_000009.11:g.(?_214977)_(368155_?)del
NC_000009.11:g.(?_214977)_(377231_?)del
NC_000009.11:g.(?_214977)_(399279_?)del
NC_000009.11:g.(?_214977)_(464219_?)del
NC_000009.11:g.(?_216117)_(399130_?)del
NC_000009.11:g.(?_271607)_(289601_?)del
NC_000009.11:g.(?_271607)_(328191_?)del
NC_000009.11:g.(?_271607)_(332498_?)del
NC_000009.11:g.(?_271607)_(334404_?)del
NC_000009.11:g.(?_271607)_(370320_?)del
NC_000009.11:g.(?_271607)_(382705_?)del
NC_000009.11:g.(?_271607)_(434995_?)del
NC_000009.11:g.(?_289490)_(399279_?)del
NC_000009.11:g.(?_304561)_(414971_?)del
NC_000009.11:g.(?_311934)_(317148_?)del
NC_000009.11:g.(?_322388)_(376266_?)del
NC_000009.11:g.(?_325651)_(332498_?)del
NC_000009.11:g.(?_325651)_(336738_?)del
NC_000009.11:g.(?_325651)_(386446_?)del
NC_000009.11:g.(?_334205)_(334404_?)del
NC_000009.11:g.(?_334205)_(452137_?)del
NC_000009.11:g.(?_367998)_(464219_?)del
NC_000009.11:g.(?_376190)_(377231_?)del
NC_000009.11:g.(?_386311)_(407089_?)del
NC_000009.11:g.(?_386311)_(422155_?)del
NC_000009.11:g.(?_390451)_(422155_?)del
NC_000009.11:g.(?_396765)_(407089_?)del
NC_000009.11:g.(?_399126)_(422155_?)del
NC_000009.11:g.(?_426865)_(427001_?)del
NC_000009.11:g.(?_426865)_(429874_?)del
NC_000009.12:g.(?_271607)_(340341_?)del
NC_000009.12:g.(?_271607)_(452137_?)del
NC_000009.12:g.(?_304561)_(399279_?)del
NC_000009.12:g.(?_304561)_(464239_?)del
NC_000009.12:g.(?_332378)_(334404_?)del
NC_000009.12:g.(?_334205)_(340341_?)del
NC_000009.12:g.(?_336562)_(386446_?)del
NC_000009.12:g.(?_370210)_(452137_?)del
NC_000009.12:g.311735_398140del
NC_000009.12:g.364057_404510dup
NG_017007.1:g.1_236742del
NM_203447.3(DOCK8):c.1126-395_2971-2751del
NM_203447.4(DOCK8):c.1125+1G>A
NM_203447.4(DOCK8):c.1134_1138del (p.Glu378fs)
NM_203447.4(DOCK8):c.1271_1274dup (p.Ser426fs) rs2130879011
NM_203447.4(DOCK8):c.1357G>T (p.Glu453Ter)
NM_203447.4(DOCK8):c.1418A>G (p.Lys473Arg) rs112321280
NM_203447.4(DOCK8):c.1470del (p.Tyr491fs)
NM_203447.4(DOCK8):c.1473del (p.Asp490_Tyr491insTer)
NM_203447.4(DOCK8):c.1497_1501del (p.Arg499fs)
NM_203447.4(DOCK8):c.1589_1614del (p.Val530fs)
NM_203447.4(DOCK8):c.1648C>T (p.Arg550Ter) rs1057518028
NM_203447.4(DOCK8):c.1797+1G>T
NM_203447.4(DOCK8):c.1878del (p.Tyr628fs)
NM_203447.4(DOCK8):c.1963C>T (p.Gln655Ter) rs1287635563
NM_203447.4(DOCK8):c.2010dup (p.Leu671fs)
NM_203447.4(DOCK8):c.2206-2A>G
NM_203447.4(DOCK8):c.2452del (p.Gln818fs)
NM_203447.4(DOCK8):c.2464G>T (p.Glu822Ter) rs372503899
NM_203447.4(DOCK8):c.3152del (p.Ser1051fs)
NM_203447.4(DOCK8):c.3339del (p.Phe1113fs) rs748134881
NM_203447.4(DOCK8):c.3340dup (p.Met1114fs)
NM_203447.4(DOCK8):c.3371_3377dup (p.Ile1127fs)
NM_203447.4(DOCK8):c.3500_3507dup (p.Ala1170fs) rs112659914
NM_203447.4(DOCK8):c.3504_3505insTGGCTGCT (p.Ala1169fs) rs886037645
NM_203447.4(DOCK8):c.3547del (p.Arg1183fs)
NM_203447.4(DOCK8):c.3550A>T (p.Lys1184Ter)
NM_203447.4(DOCK8):c.3803del (p.Phe1268fs) rs2056112807
NM_203447.4(DOCK8):c.4070C>A (p.Ser1357Ter)
NM_203447.4(DOCK8):c.4162C>T (p.Arg1388Ter) rs1476130680
NM_203447.4(DOCK8):c.4163del (p.Arg1388fs) rs2131648737
NM_203447.4(DOCK8):c.4215G>A (p.Trp1405Ter)
NM_203447.4(DOCK8):c.4235dup (p.Asp1413fs)
NM_203447.4(DOCK8):c.4241+1G>A rs2131649330
NM_203447.4(DOCK8):c.4974C>G (p.Tyr1658Ter)
NM_203447.4(DOCK8):c.510C>A (p.Cys170Ter)
NM_203447.4(DOCK8):c.5132C>A (p.Ser1711Ter) rs1554707993
NM_203447.4(DOCK8):c.5161C>T (p.Gln1721Ter) rs754989398
NM_203447.4(DOCK8):c.5261del (p.Leu1754fs) rs886041815
NM_203447.4(DOCK8):c.5287C>T (p.Arg1763Ter)
NM_203447.4(DOCK8):c.5309_5310del (p.Leu1770fs)
NM_203447.4(DOCK8):c.5386C>T (p.Arg1796Ter) rs775544616
NM_203447.4(DOCK8):c.5442del (p.Val1813_Tyr1814insTer) rs2057107899
NM_203447.4(DOCK8):c.5481dup (p.Arg1828Ter) rs2131814069
NM_203447.4(DOCK8):c.5961+791_6068+2021del
NM_203447.4(DOCK8):c.6019dup (p.Tyr2007fs) rs869312169
NM_203447.4(DOCK8):c.6022C>T (p.Arg2008Ter)
NM_203447.4(DOCK8):c.6115C>T (p.Gln2039Ter) rs2131982095
NM_203447.4(DOCK8):c.760del (p.Arg254fs) rs2130746906
NM_203447.4(DOCK8):c.851del (p.Leu284fs) rs2130807292

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