List of variants reported as benign for Joubert syndrome 5 by Illumina Laboratory Services, Illumina

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Total variants: 15

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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.2512A>G (p.Lys838Glu)	rs11104738	0.05247
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His)	rs7307793	0.05017
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp)	rs7970228	0.04262
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)	rs117122459	0.02377
NM_025114.4(CEP290):c.251-10A>T	rs190383141	0.02052
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.3465G>A (p.Leu1155=)	rs150138016	0.00760
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)	rs61941020	0.00714
NM_025114.4(CEP290):c.1624-5T>C	rs142742071	0.00704
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)	rs79644671	0.00692
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val)	rs75220808	0.00637
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)	rs147371999	0.00585
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)	rs11104729	0.00463

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