"Rady Children's Institute for Genomic Medicine, Rady Children's Hospi - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 984928	NM_001363711.2(DUOX2):c.4081-1G>A	DUOX2	Single nucleotide variant (splice acceptor variant)	Thyroid dyshormonogenesis 6 +1 more	GLikely pathogenic
Select item 189229	NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)	DUOX2 (F966fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 279800	NM_001363711.2(DUOX2):c.602dup (p.Gln202fs)	DUOX2 (Q202fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic

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ClinVar