ClinVar Miner

Variants in gene DOCK6 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: 3
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HGVS dbSNP gnomAD frequency
NM_020812.4(DOCK6):c.5939+2T>C rs201387914 0.00019
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter) rs372751467 0.00001
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs) rs730882238

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