ClinVar Miner

List of variants in gene CEP290 reported by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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Total variants: 8
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HGVS dbSNP gnomAD frequency
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.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.297+1G>T rs878853360 0.00001
NM_025114.4(CEP290):c.148C>T (p.His50Tyr) rs878853363
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) rs878853362
NM_025114.4(CEP290):c.4801C>T (p.Gln1601Ter) rs878853361

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