ClinVar Miner

List of variants in gene DUOX2 reported as benign for congenital hypothyroidism

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.3515+15T>A rs269869 0.99253
NM_001363711.2(DUOX2):c.413C>T (p.Pro138Leu) rs2001616 0.75375
NM_001363711.2(DUOX2):c.3200C>T (p.Ser1067Leu) rs269868 0.71631
NM_001363711.2(DUOX2):c.*432G>A rs10851420 0.21152
NM_001363711.2(DUOX2):c.2033A>G (p.His678Arg) rs57659670 0.17189
NM_001363711.2(DUOX2):c.*722G>A rs8024922 0.11058
NM_001363711.2(DUOX2):c.*453T>C rs3743222 0.10663
NM_001363711.2(DUOX2):c.2334+10C>T rs73406330 0.09464
NM_001363711.2(DUOX2):c.4479C>G (p.Pro1493=) rs56323146 0.08342
NM_001363711.2(DUOX2):c.*478G>A rs12324044 0.07275
NM_001363711.2(DUOX2):c.1962C>T (p.Gly654=) rs58361817 0.05875
NM_001363711.2(DUOX2):c.*37C>T rs75163715 0.04007
NM_001363711.2(DUOX2):c.3050A>G (p.Glu1017Gly) rs79393107 0.03767
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) rs138353181 0.00700
NM_001363711.2(DUOX2):c.512T>C (p.Leu171Pro) rs199957468 0.00285
NM_001363711.2(DUOX2):c.*852T>A rs4775744
NM_001363711.2(DUOX2):c.1461G>C (p.Gly487=) rs269860

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