List of variants in gene DUOX2 reported as likely pathogenic by GeneDx

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr)	rs76343591	0.00109
NM_001363711.2(DUOX2):c.1516G>A (p.Asp506Asn)	rs200134167	0.00023
NM_001363711.2(DUOX2):c.2665G>T (p.Glu889Ter)	rs376983373	0.00019
NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp)	rs119472029	0.00014
NM_001363711.2(DUOX2):c.4552G>A (p.Gly1518Ser)	rs368512412	0.00008
NM_001363711.2(DUOX2):c.1478del (p.His493fs)	rs751410726	0.00001
NM_001363711.2(DUOX2):c.3415+1G>C	rs941026356	0.00001
NM_001363711.2(DUOX2):c.3416-2A>C	rs758000012	0.00001
NM_001363711.2(DUOX2):c.2048G>T (p.Arg683Leu)	rs8028305
NM_001363711.2(DUOX2):c.3061C>T (p.Arg1021Ter)
NM_001363711.2(DUOX2):c.3340del (p.Leu1114fs)	rs748194265
NM_001363711.2(DUOX2):c.3656G>A (p.Trp1219Ter)	rs377189285
NM_001363711.2(DUOX2):c.3667del (p.His1223fs)	rs754179275
NM_001363711.2(DUOX2):c.380_381del (p.Glu127fs)	rs1595529163
NM_001363711.2(DUOX2):c.605_621del (p.Gln202fs)	rs769318570

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