ClinVar Miner

Variants in gene DUOX2 with conflicting interpretations "likely benign" and "likely pathogenic"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) 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_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr) rs76343591 0.00109
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00042
NM_001363711.2(DUOX2):c.2048G>T (p.Arg683Leu) rs8028305

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