ClinVar Miner

List of variants reported as likely benign for Joubert syndrome 15 by Illumina Laboratory Services, Illumina

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_018718.3(CEP41):c.*1512C>T rs73721889 0.00689
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_018718.3(CEP41):c.*136T>G rs148305542 0.00287
NM_018718.3(CEP41):c.*4314T>C rs114939029 0.00286
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165 0.00223
NM_018718.3(CEP41):c.*4594C>T rs151309255 0.00159
NM_018718.3(CEP41):c.*2481T>A rs528289176 0.00051
NM_018718.3(CEP41):c.*2896G>A rs147207980 0.00048
NM_018718.3(CEP41):c.*1534T>C rs149912245 0.00047
NM_018718.3(CEP41):c.*1567A>C rs139085191 0.00047
NM_018718.3(CEP41):c.*392G>A rs528501184 0.00026
NM_018718.3(CEP41):c.*1336A>G rs781954428 0.00007

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