ClinVar Miner

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

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.6522+5dup rs11405846

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