ClinVar Miner

List of variants in gene CEP290 studied for Retinitis pigmentosa

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 0.00029
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230 0.00012
NM_025114.4(CEP290):c.6646-11T>G rs1431021703 0.00007
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_025114.4(CEP290):c.2691A>G (p.Ile897Met) rs774079924 0.00001
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr) rs761010723 0.00001
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2682dup (p.Ser895fs) rs1555216730
NM_025114.4(CEP290):c.3462dup (p.Leu1155fs) rs2037140260
NM_025114.4(CEP290):c.381del (p.Asp128fs) rs1295893226
NM_025114.4(CEP290):c.4029+1G>A rs2036808766
NM_025114.4(CEP290):c.43C>G (p.Pro15Ala) rs1425716932
NM_025114.4(CEP290):c.4705-2A>C rs2137170380
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031

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