ClinVar Miner

List of variants in gene DOCK8 reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.952G>A (p.Ala318Thr) rs35482838 0.02279
NM_203447.4(DOCK8):c.3565A>G (p.Ile1189Val) rs77399114 0.02082
NM_203447.4(DOCK8):c.53+52T>G rs192260189 0.01354
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00865
NM_203447.4(DOCK8):c.1193G>A (p.Arg398Gln) rs147287319 0.00040
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_203447.4(DOCK8):c.1528C>A (p.Leu510Met) rs771479299 0.00003
NM_203447.4(DOCK8):c.5962-38_5962-17del rs771454295

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