List of variants reported for Achromatopsia by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_006204.4(PDE6C):c.1847+3_1847+6del	rs1554890513
NM_006204.4(PDE6C):c.595A>G (p.Lys199Glu)	rs1554888858
NM_006204.4(PDE6C):c.631G>T (p.Glu211Ter)	rs1554888861
NM_006204.4(PDE6C):c.864+1G>A	rs1023522305
NM_007348.4(ATF6):c.417dup (p.Asn140Ter)	rs765383904

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