List of variants reported as likely pathogenic for Leber congenital amaurosis 1 by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	rs61750168	0.00019
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)	rs754768875	0.00003
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs)	rs1598146589
NM_000180.4(GUCY2D):c.2135A>T (p.Glu712Val)	rs2151802780
NM_000180.4(GUCY2D):c.2234del (p.Pro745fs)	rs1598149659
NM_014336.4:c.(?_-1)_(276+1_277-1)del
NM_025114.4(CEP290):c.180+1G>A	rs758593134
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter)	rs1592726020
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	rs62645752

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