ClinVar Miner

List of variants in gene CEP290 reported as uncertain significance for Bardet-Biedl syndrome

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Total variants: 7
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HGVS dbSNP
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100

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