ClinVar Miner

List of variants in gene DOCK8 reported as likely pathogenic

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Total variants: 19
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HGVS dbSNP
GRCh37/hg19 9p24.3(chr9:203861-378086)x1
GRCh37/hg19 9p24.3(chr9:209753-236828)x1
GRCh37/hg19 9p24.3(chr9:266045-434797)x1
GRCh37/hg19 9p24.3(chr9:404753-407272)x1
NC_000009.11:g.(?_271607)_(328191_?)dup
NC_000009.11:g.(?_271607)_(340341_?)dup
NC_000009.11:g.(?_271627)_(382685_?)dup
NC_000009.11:g.(?_271627)_(399259_?)dup
NC_000009.11:g.(?_286441)_(289601_?)del
NM_203447.3(DOCK8):c.1648C>T (p.Arg550Ter) rs1057518028
NM_203447.3(DOCK8):c.1680-2A>G
NM_203447.3(DOCK8):c.1797+61A>C rs786205596
NM_203447.3(DOCK8):c.197del (p.Gly66fs) rs1554655653
NM_203447.3(DOCK8):c.2779-2A>C rs776399238
NM_203447.3(DOCK8):c.3234+2T>C
NM_203447.3(DOCK8):c.3530+1G>A rs1564025732
NM_203447.3(DOCK8):c.4129del (p.Glu1377fs) rs1554701472
NM_203447.3(DOCK8):c.54-1G>T rs192864327
NM_203447.3(DOCK8):c.882dup (p.Glu295fs) rs1554668061

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