List of variants in gene CEP290 reported as likely benign for Leber congenital amaurosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	rs188164241	0.00405
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)	rs182369459	0.00241
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)	rs139998038	0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)	rs183655276	0.00187
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)	rs184143186	0.00138
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)	rs201838492	0.00133
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)	rs201614215	0.00091
NM_025114.4(CEP290):c.2595C>T (p.Leu865=)	rs114632733	0.00046
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)	rs199747962	0.00032
NM_025114.4(CEP290):c.4182G>A (p.Val1394=)	rs371530941	0.00024
NM_025114.4(CEP290):c.1918T>C (p.Leu640=)	rs541138095	0.00017
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=)	rs182851622	0.00016
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=)	rs370622537	0.00014
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val)	rs372190684	0.00014
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)	rs727503854	0.00012
NM_025114.4(CEP290):c.6909A>C (p.Ala2303=)	rs774138995	0.00006
NM_025114.4(CEP290):c.1905T>C (p.Asn635=)	rs778341097	0.00004
NM_025114.4(CEP290):c.2244T>C (p.Ser748=)	rs979564116	0.00004
NM_025114.4(CEP290):c.288T>C (p.Asn96=)	rs367691481	0.00004
NM_025114.4(CEP290):c.3246C>T (p.His1082=)	rs539042966	0.00003
NM_025114.4(CEP290):c.5577T>C (p.Ser1859=)	rs1481341836	0.00002
NM_025114.4(CEP290):c.5259A>C (p.Ala1753=)	rs747328752	0.00001
NM_025114.4(CEP290):c.5385T>C (p.Asn1795=)	rs1452561924	0.00001
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)	rs765002773	0.00001
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=)	rs1409872235	0.00001
NM_025114.4(CEP290):c.1789T>C (p.Leu597=)	rs2039096949
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=)	rs775294433
NM_025114.4(CEP290):c.5391T>C (p.Asn1797=)	rs1034544936
NM_025114.4(CEP290):c.6001T>C (p.Leu2001=)	rs112738303
NM_025114.4(CEP290):c.6165T>C (p.Cys2055=)	rs2034700190

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