List of variants reported as pathogenic for Leber congenital amaurosis 9 by Laboratory of Genetics in Ophthalmology, Institut Imagine

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	rs150726175	0.00087
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)	rs138613460	0.00057
NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter)	rs371526758	0.00012
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp)	rs142968179	0.00004
NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser)	rs778606847	0.00001
NC_000001.11:g.(?_9972074)_(9972188_?)del
NC_000001.11:g.(?_9972074)_(9975775_?)del
NM_022787.4(NMNAT1):c.-69C>T	rs1175912276
NM_022787.4(NMNAT1):c.1A>G (p.Met1Val)	rs756649389
NM_022787.4(NMNAT1):c.319G>T (p.Glu107Ter)	rs1641936336
NM_022787.4(NMNAT1):c.364del (p.Arg122fs)	rs1413885352
NM_022787.4(NMNAT1):c.376A>T (p.Lys126Ter)	rs1641937559
NM_022787.4(NMNAT1):c.439+1G>C	rs1641939338
NM_022787.4(NMNAT1):c.643G>T (p.Glu215Ter)	rs1345605596

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