ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome 5 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)	rs1465414886
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)	rs1592833648
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)	rs561598805

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