List of variants in gene DUOX2 reported as pathogenic by Revvity Omics, Revvity

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter)	rs180671269	0.00017
NM_001363711.2(DUOX2):c.1300C>T (p.Arg434Ter)	rs119472026	0.00007
NM_001363711.2(DUOX2):c.1708C>T (p.Gln570Ter)	rs1332668133	0.00002
NM_001363711.2(DUOX2):c.2000del (p.Leu667fs)	rs772348846	0.00002
NM_001363711.2(DUOX2):c.2101C>T (p.Arg701Ter)	rs201109959	0.00002
NM_001363711.2(DUOX2):c.2921+2T>C	rs2141145828
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs)	rs567500345

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