ClinVar Miner

List of variants in gene DUOX2 reported as likely pathogenic by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_001363711.2(DUOX2):c.4171C>G (p.Pro1391Ala) rs771198569 0.00001
NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu) rs748793969
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719

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