List of variants reported as pathogenic for Retinal dystrophy by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_206933.4(USH2A):c.2299del (p.Glu767fs)	rs80338903	0.00055
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	rs61751402	0.00006
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)	rs398123575	0.00004
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	rs61751404	0.00003
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)	rs61752067	0.00001
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)	rs61750135	0.00001
NM_001034853.2(RPGR):c.1928C>G (p.Ser643Ter)	rs869312185
NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter)	rs137853005

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