List of variants reported as likely pathogenic for Leber congenital amaurosis 1 by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	rs150726175	0.00087
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	rs61751404	0.00003
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val)	rs768528387	0.00001
NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr)	rs1553128102	0.00001
NM_022787.4(NMNAT1):c.661dup (p.Ile221fs)	rs775978677	0.00001
NM_000180.4(GUCY2D):c.3098_3099insCGTGCTCT (p.Gly1034fs)	rs1555635925
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)	rs201405662
NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter)	rs1553722736
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs)	rs776880045
NM_020366.4(RPGRIP1):c.1152-1749_1763-1241del
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)	rs780667159
NM_020366.4(RPGRIP1):c.3120G>A (p.Trp1040Ter)	rs1555303320
NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln)	rs747653875
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)	rs62635288
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)	rs369775002
NM_201253.3(CRB1):c.2220dup (p.Met741fs)	rs1553261468

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