ClinVar Miner

List of variants reported as benign for Joubert syndrome 15 by Invitae

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Total variants: 8
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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.208-5A>G rs11765434 0.00453
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_018718.3(CEP41):c.575-12T>C rs186638258 0.00185
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803 0.00006
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018718.3(CEP41):c.575-14del rs144531086
NM_018718.3(CEP41):c.758-14dup rs1156468685

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