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

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)	rs62637014	0.00038
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg)	rs121908449	0.00019
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)	rs62638214	0.00011
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)	rs386834152	0.00005
NM_033100.4(CDHR1):c.524dup (p.Asn176fs)	rs781781440	0.00002
NM_025114.4(CEP290):c.5587-1G>C	rs968692633	0.00001
NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro)	rs1284009768
NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter)	rs137853124

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