ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.908C>G (p.Pro303Arg) rs151261408 0.01090
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) rs138353181 0.00700
NM_001363711.2(DUOX2):c.512T>C (p.Leu171Pro) rs199957468 0.00285
NM_001363711.2(DUOX2):c.2544G>C (p.Leu848=) rs139095108 0.00232
NM_001363711.2(DUOX2):c.597G>C (p.Ser199=) rs2467828 0.00148
NM_001363711.2(DUOX2):c.567C>T (p.His189=) rs2467829 0.00099
NM_001363711.2(DUOX2):c.3615C>T (p.Phe1205=) rs201261436 0.00006

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