"Revvity Omics, Revvity"[submitter] AND "CNGB3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 666061	NM_019098.5(CNGB3):c.2085del (p.Lys695fs)	CNGB3 (K695fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 189031	NM_019098.5(CNGB3):c.1578+1G>A	CNGB3	Single nucleotide variant (splice donor variant)	CNGB3-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 5225	NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	CNGB3	Deletion (frameshift variant)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 2439159	NM_019098.5(CNGB3):c.1131T>G (p.Tyr377Ter)	CNGB3 (Y377*)	Single nucleotide variant (nonsense)	Achromatopsia 3	GLikely pathogenic
Select item 427687	NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter)	CNGB3 (R355*)	Single nucleotide variant (nonsense)	Achromatopsia 3 +1 more	GPathogenic/Likely pathogenic
Select item 1322099	NM_019098.5(CNGB3):c.442_446delinsGAAAAT (p.Lys148fs)	CNGB3 (K148fs)	Indel (frameshift variant)	Achromatopsia 3	GPathogenic

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