List of variants in gene CEP290 reported as pathogenic for Retinal dystrophy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.2991+1655A>G	rs281865192	0.00029
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.508A>T (p.Lys170Ter)	rs772170760	0.00004
NM_025114.4(CEP290):c.6012-12T>A	rs752197734	0.00002
NM_025114.4(CEP290):c.1711+1G>A	rs587783009	0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)	rs780225183	0.00001
NM_025114.4(CEP290):c.5587-1G>C	rs968692633	0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)	rs137852835	0.00001
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)	rs386834148
NM_025114.4(CEP290):c.1666del (p.Ile556fs)	rs727503855
NM_025114.4(CEP290):c.1864_1865del (p.Asp622fs)	rs1033594764
NM_025114.4(CEP290):c.2052+1_2052+2del	rs747835249
NM_025114.4(CEP290):c.3361G>T (p.Glu1121Ter)
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)	rs780624853
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)	rs386834158
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)	rs1592784618
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)	rs587783017
NM_025114.4(CEP290):c.828del (p.Glu277fs)	rs1555225566

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