ClinVar Miner

Variants in gene DOCK8 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_203447.4(DOCK8):c.1357G>T (p.Glu453Ter)
NM_203447.4(DOCK8):c.1648C>T (p.Arg550Ter) rs1057518028
NM_203447.4(DOCK8):c.3339del (p.Phe1113fs) rs748134881

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