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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg)	rs2467827	0.00146
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu)	rs547116063	0.00131
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr)	rs76343591	0.00109
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg)	rs191759494	0.00024
NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter)	rs180671269	0.00017
NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp)	rs119472029	0.00014
NM_001363711.2(DUOX2):c.3329G>A (p.Arg1110Gln)	rs368488511	0.00008
NM_001363711.2(DUOX2):c.1300C>T (p.Arg434Ter)	rs119472026	0.00007
NM_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter)	rs119472028	0.00006
NM_001363711.2(DUOX2):c.2000del (p.Leu667fs)	rs772348846	0.00004
NM_001363711.2(DUOX2):c.513+1G>C	rs752635135	0.00003
NM_001363711.2(DUOX2):c.2101C>T (p.Arg701Ter)	rs201109959	0.00002
NM_001363711.2(DUOX2):c.3328C>T (p.Arg1110Ter)	rs531536885	0.00001
NM_001363711.2(DUOX2):c.1708C>T (p.Gln570Ter)
NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter)	rs770083296
NM_001363711.2(DUOX2):c.2056C>T (p.Gln686Ter)	rs119472027
NM_001363711.2(DUOX2):c.2428G>T (p.Glu810Ter)
NM_001363711.2(DUOX2):c.2654G>A (p.Arg885Gln)	rs181461079
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)	rs530719719
NM_001363711.2(DUOX2):c.2921+2T>C	rs2141145828
NM_001363711.2(DUOX2):c.3134_3135del (p.Val1045fs)
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs)	rs567500345
NM_001363711.2(DUOX2):c.605_621del (p.Gln202fs)	rs769318570
NM_001363711.2(DUOX2):c.790del (p.Leu264fs)	rs1894386318

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