ClinVar Miner

List of variants in gene CEP290 reported as likely pathogenic by Invitae

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Total variants: 18
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HGVS dbSNP
NC_000012.12:g.(?_88058838)_(88061004_?)dup
NM_025114.4(CEP290):c.1523-1G>T rs1192112844
NM_025114.4(CEP290):c.1623+1G>A rs863225186
NM_025114.4(CEP290):c.1712-2A>T
NM_025114.4(CEP290):c.251-2A>G
NM_025114.4(CEP290):c.3461+1G>A rs766952056
NM_025114.4(CEP290):c.3573+2T>C
NM_025114.4(CEP290):c.4030-2A>G
NM_025114.4(CEP290):c.4437+1G>A rs760915898
NM_025114.4(CEP290):c.4438-3del rs747323414
NM_025114.4(CEP290):c.4813-2A>G rs369523378
NM_025114.4(CEP290):c.5012+2T>C rs1369768287
NM_025114.4(CEP290):c.5709+1G>A
NM_025114.4(CEP290):c.6271-6_6274del
NM_025114.4(CEP290):c.6358-1G>A rs766670248
NM_025114.4(CEP290):c.6645+1G>A rs201218801
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.942+1G>C

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