ClinVar Miner

List of variants in gene DOCK8 reported as pathogenic

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Total variants: 22
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HGVS dbSNP
GRCh37/hg19 9p24.3(chr9:203861-378086)x3
GRCh38/hg38 9p24.3(chr9:204090-416321)x1
NC_000009.12:g.(?_214957)_(215049_?)del
NC_000009.12:g.(?_286441)_(464239_?)del
NC_000009.12:g.(?_304561)_(464239_?)del
NC_000009.12:g.204193_343954del139762
NC_000009.12:g.311734_398139del86406
NM_001193536.1(DOCK8):c.3290del (p.Thr1097Lysfs) rs113944762
NM_203447.3(DOCK8):c.1126-395_2971-2751del
NM_203447.3(DOCK8):c.1418A>G (p.Lys473Arg) rs112321280
NM_203447.3(DOCK8):c.2606-1G>A rs886041535
NM_203447.3(DOCK8):c.2805_2811delGTCTTAC (p.Met935Ilefs) rs1554687151
NM_203447.3(DOCK8):c.2971-1G>A rs777066716
NM_203447.3(DOCK8):c.3504_3505insTGGCTGCT (p.Ala1169Trpfs) rs886037645
NM_203447.3(DOCK8):c.4162C>T (p.Arg1388Ter) rs1476130680
NM_203447.3(DOCK8):c.5132C>A (p.Ser1711Ter) rs1554707993
NM_203447.3(DOCK8):c.5261delT (p.Leu1754Argfs) rs886041815
NM_203447.3(DOCK8):c.5386C>T (p.Arg1796Ter)
NM_203447.3(DOCK8):c.54-1G>T rs192864327
NM_203447.3(DOCK8):c.6019dup (p.Tyr2007Leufs) rs869312169
NM_203447.3(DOCK8):c.918_919insTTGAACT (p.Asp310Glufs) rs1064793335
NM_203447.3(DOCK8):c.949C>T (p.Arg317Ter) rs113432057

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