List of variants reported as pathogenic for achromatopsia by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)	rs141386891	0.00036
NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter)	rs745308973	0.00004
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg)	rs781227859	0.00002
NM_001298.3(CNGA3):c.1231del (p.Ala411fs)
NM_001298.3(CNGA3):c.1443dup (p.Ile482fs)
NM_001298.3(CNGA3):c.1749del (p.Leu584fs)	rs2104250161
NM_001298.3(CNGA3):c.271C>T (p.Gln91Ter)

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