ClinVar Miner

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

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_018718.3(CEP41):c.*5102G>A rs1990790 0.54035
NM_018718.3(CEP41):c.-5A>C rs2287371 0.39010
NM_018718.3(CEP41):c.*4295G>C rs4728195 0.36596
NM_018718.3(CEP41):c.*4037A>G rs7793239 0.23508
NM_018718.3(CEP41):c.*2041G>A rs73152868 0.18522
NM_018718.3(CEP41):c.*1859G>T rs73152869 0.17105
NM_018718.3(CEP41):c.*1931C>T rs17133175 0.15684
NM_018718.3(CEP41):c.*3887C>G rs62471754 0.11370
NM_018718.3(CEP41):c.*927T>C rs73152870 0.02074
NM_018718.3(CEP41):c.*3507C>T rs149385617 0.01355
NM_018718.3(CEP41):c.*3765G>T rs138768326 0.01276
NM_018718.3(CEP41):c.*3783T>C rs117071818 0.01015
NM_018718.3(CEP41):c.*2482A>T rs189091601 0.00317
NM_018718.3(CEP41):c.*655C>T rs141441037 0.00185
NM_018718.3(CEP41):c.*3856C>T rs187532705 0.00082
NM_018718.3(CEP41):c.*4595G>A rs117814753 0.00046

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