List of variants reported as uncertain significance for CEP290-related ciliopathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)	rs561018129	0.00003
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln)	rs765944337	0.00003
NM_025114.4(CEP290):c.3541G>C (p.Glu1181Gln)	rs1466311097
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val)	rs2033943524

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