ClinVar Miner

List of variants reported as benign for Bardet-Biedl syndrome by Illumina Laboratory Services, Illumina

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001278293.3(ARL6):c.*225G>C rs4857294 0.92035
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_015910.7(WDPCP):c.*624_*625del rs139878372
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_031885.3(BBS2):c.-242T>C rs12446354
NM_176824.3(BBS7):c.*729del rs3217754

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