"3billion"[submitter] AND "CNGB3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526136	NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser)	CNGB3 (L405S)	Single nucleotide variant (missense variant)	Achromatopsia 3	GConflicting classifications of pathogenicity
Select item 5225	NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	CNGB3	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely 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 427673	NM_019098.5(CNGB3):c.806T>C (p.Leu269Pro)	CNGB3 (L269P)	Single nucleotide variant (missense variant)	Achromatopsia 3 +1 more	GLikely pathogenic
Select item 991602	NM_019098.5(CNGB3):c.680T>C (p.Leu227Pro)	CNGB3 (L227P)	Single nucleotide variant (missense variant)	Achromatopsia 3 +2 more	GUncertain significance
Select item 370100	NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs)	CNGB3 (K149fs)	Insertion (frameshift variant)	Achromatopsia 3 +1 more	GPathogenic/Likely pathogenic

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