List of variants in gene CEP290 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.2055T>C (p.Ala685=)	rs45465996	0.11965
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His)	rs7307793	0.05381
NM_025114.4(CEP290):c.442-19T>A	rs113132803	0.05334
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu)	rs11104738	0.05247
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)	rs117122459	0.02390
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly)	rs79705698	0.02050
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)	rs45502896	0.01608
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)	rs61941020	0.00577
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)	rs117370446	0.00329
NM_025114.4(CEP290):c.2991+1655A>G	rs281865192	0.00029
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys)	rs374656545	0.00019
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	rs137852834	0.00009
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	rs539400286	0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)	rs749439750	0.00002
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)	rs760415289	0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)	rs757641323	0.00001
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)	rs386834148
NM_025114.4(CEP290):c.2390del (p.Lys797fs)	rs781670422
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)	rs62640570
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)	rs757309583
NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter)	rs1226324483
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs)	rs281865188
NM_025114.4(CEP290):c.6522+5dup	rs11405846
NM_025114.4(CEP290):c.679_680del (p.Glu227fs)	rs62640578

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