ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 2 by Baylor Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	rs201108965
NM_001173990.3(TMEM216):c.222_229+3delinsTTTTTTTGTT
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	rs11230683

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