ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 24
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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.2950G>T (p.Ala984Ser) rs138358075 0.00235
NM_001363711.2(DUOX2):c.1351G>A (p.Asp451Asn) rs139786814 0.00183
NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg) rs2467827 0.00142
NM_001363711.2(DUOX2):c.3232G>A (p.Val1078Met) rs147772932 0.00125
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr) rs76343591 0.00109
NM_001363711.2(DUOX2):c.4637A>G (p.Glu1546Gly) rs201229193 0.00073
NM_001363711.2(DUOX2):c.2793T>C (p.His931=) rs138306055 0.00062
NM_001363711.2(DUOX2):c.2796C>T (p.Asp932=) rs141644475 0.00062
NM_001363711.2(DUOX2):c.2794G>A (p.Asp932Asn) rs147047438 0.00060
NM_001363711.2(DUOX2):c.2906G>A (p.Arg969Gln) rs146664125 0.00056
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00042
NM_001363711.2(DUOX2):c.3103G>A (p.Val1035Met) rs138774384 0.00041
NM_001363711.2(DUOX2):c.4027C>T (p.Leu1343Phe) rs147945181 0.00037
NM_001363711.2(DUOX2):c.4320C>G (p.Asp1440Glu) rs115865111 0.00037
NM_001363711.2(DUOX2):c.2725C>T (p.Arg909Trp) rs150698607 0.00024
NM_001363711.2(DUOX2):c.1825C>T (p.Pro609Ser) rs201221237 0.00018
NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp) rs766496010 0.00014
NM_001363711.2(DUOX2):c.1268C>T (p.Thr423Ile) rs201197899 0.00013
NM_001363711.2(DUOX2):c.1189C>A (p.Gln397Lys) rs200989933 0.00009
NM_001363711.2(DUOX2):c.4239+3G>T rs377517657 0.00008
NM_001363711.2(DUOX2):c.1933G>T (p.Asp645Tyr) rs773358950 0.00006
NM_001363711.2(DUOX2):c.4046C>G (p.Ser1349Cys) rs768030115 0.00004
NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly) rs143471358

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