List of variants reported as pathogenic for Leber congenital amaurosis by Rui Chen Lab, Baylor College of Medicine

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)	rs1420672586	0.00002
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe)	rs751218423	0.00001
NM_020366.4(RPGRIP1):c.564A>G (p.Glu188=)	rs574462207	0.00001
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)	rs1553152989
NM_000440.3(PDE6A):c.2027+5G>T	rs794727166
NM_001134831.2(AHI1):c.1912+5G>T	rs1554347012
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile)	rs863224884
NM_006915.3(RP2):c.102+3A>C	rs1556313557
NM_018418.5(SPATA7):c.1215G>T (p.Glu405Asp)	rs768028061
NM_018418.5(SPATA7):c.19G>A (p.Val7Ile)	rs371609982
NM_020366.4(RPGRIP1):c.1611G>A (p.Gln537=)	rs1064797181
NM_020366.4(RPGRIP1):c.3339+5G>A	rs1057518122
NM_025114.4(CEP290):c.1623+5G>A	rs1555222073
NM_025114.4(CEP290):c.1910-11T>G	rs1555220638
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)	rs62645747

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