ClinVar Miner

List of variants in gene DUOX2 reported as likely pathogenic by Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.1310G>C (p.Gly437Ala) rs769796932 0.00001
NM_001363711.2(DUOX2):c.3115C>T (p.Arg1039Trp) rs752176935 0.00001
NM_001363711.2(DUOX2):c.4080G>T (p.Lys1360Asn) rs374891282
NM_001363711.2(DUOX2):c.989T>G (p.Val330Gly) rs778178479

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