ClinVar Miner

List of variants in gene DUOX2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.2835A>G (p.Gly945=) rs112428007 0.00914
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) rs138353181 0.00700
NM_001363711.2(DUOX2):c.3435C>T (p.His1145=) rs150893514 0.00617
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys) rs139161034 0.00343
NM_001363711.2(DUOX2):c.512T>C (p.Leu171Pro) rs199957468 0.00285
NM_001363711.2(DUOX2):c.2950G>T (p.Ala984Ser) rs138358075 0.00235
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.1621C>A (p.Arg541=) rs140940946 0.00096
NM_001363711.2(DUOX2):c.514-4G>A rs374243549 0.00061
NM_001363711.2(DUOX2):c.2793T>C (p.His931=) rs138306055 0.00060
NM_001363711.2(DUOX2):c.2794G>A (p.Asp932Asn) rs147047438 0.00060
NM_001363711.2(DUOX2):c.2796C>T (p.Asp932=) rs141644475 0.00060
NM_001363711.2(DUOX2):c.3391G>A (p.Ala1131Thr) rs147540920 0.00017
NM_001363711.2(DUOX2):c.1825C>T (p.Pro609Ser) rs201221237 0.00014
NM_001363711.2(DUOX2):c.533G>T (p.Trp178Leu) rs190660925 0.00013
NM_001363711.2(DUOX2):c.1189C>A (p.Gln397Lys) rs200989933 0.00008
NM_001363711.2(DUOX2):c.3615C>T (p.Phe1205=) rs201261436 0.00006
NM_001363711.2(DUOX2):c.3483C>T (p.Ala1161=) rs567703268 0.00004
NM_001363711.2(DUOX2):c.4046C>G (p.Ser1349Cys) rs768030115 0.00004
NM_001363711.2(DUOX2):c.4119G>T (p.Glu1373Asp) rs200872016 0.00004
NM_001363711.2(DUOX2):c.4485C>T (p.Phe1495=) rs556008835 0.00004
NM_001363711.2(DUOX2):c.2149G>C (p.Val717Leu) rs762337913 0.00002
NM_001363711.2(DUOX2):c.3328C>T (p.Arg1110Ter) rs531536885 0.00001
NM_001363711.2(DUOX2):c.953C>A (p.Pro318His) rs555083063 0.00001
NM_001363711.2(DUOX2):c.-14-5C>A
NM_001363711.2(DUOX2):c.1461_1462delinsA (p.Leu489fs) rs2141153740
NM_001363711.2(DUOX2):c.295C>T (p.His99Tyr)
NM_001363711.2(DUOX2):c.598G>C (p.Gly200Arg) rs2467827
NM_001363711.2(DUOX2):c.925del (p.Thr309fs) rs1894362961
NM_001363711.2(DUOX2):c.932C>T (p.Pro311Leu)

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