ClinVar Miner

List of variants studied for Joubert syndrome 15 by Joe DiMaggio Children's Hospital, Memorial Healthcare System

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg) rs564625875 0.00006
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg) rs782371437 0.00002

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