C1857618[trait identifier] AND "Bioscientia Institut fuer Medizinische - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 829838	NM_001298.3(CNGA3):c.589T>C (p.Ser197Pro)	CNGA3 (S179P +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 829859	NM_001298.3(CNGA3):c.1085C>T (p.Thr362Ile)	CNGA3 (T362I +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic