ClinVar Miner

List of variants in gene DUOX2 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys) rs139161034 0.00343
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_001363711.2(DUOX2):c.3232G>A (p.Val1078Met) rs147772932 0.00130
NM_001363711.2(DUOX2):c.567C>T (p.His189=) rs2467829 0.00099
NM_001363711.2(DUOX2):c.1547G>A (p.Arg516His) rs143818717 0.00029
NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp) rs766496010 0.00014
NM_001363711.2(DUOX2):c.2335-1G>C rs758001307 0.00001
NM_001363711.2(DUOX2):c.3116G>A (p.Arg1039Gln) rs772992566 0.00001
NM_001363711.2(DUOX2):c.1587G>T (p.Lys529Asn)
NM_001363711.2(DUOX2):c.1718A>G (p.Gln573Arg)
NM_001363711.2(DUOX2):c.199G>A (p.Asp67Asn) rs1255757517
NM_001363711.2(DUOX2):c.214G>T (p.Ala72Ser)
NM_001363711.2(DUOX2):c.2428G>T (p.Glu810Ter)
NM_001363711.2(DUOX2):c.2654G>A (p.Arg885Gln) rs181461079
NM_001363711.2(DUOX2):c.2803C>T (p.Leu935Phe)
NM_001363711.2(DUOX2):c.3395T>A (p.Met1132Lys)
NM_001363711.2(DUOX2):c.345_352del (p.Asp115fs) rs1566978577
NM_001363711.2(DUOX2):c.355G>C (p.Val119Leu) rs138970496
NM_001363711.2(DUOX2):c.3721A>T (p.Ile1241Phe)
NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly) rs143471358
NM_001363711.2(DUOX2):c.3940G>A (p.Glu1314Lys)
NM_001363711.2(DUOX2):c.838G>A (p.Glu280Lys)

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