ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 17 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (10):

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)	rs749523755	0.00001
NM_001384732.1(CPLANE1):c.8633-3T>A	rs1561376157
NM_001384732.1(CPLANE1):c.8980del (p.Glu2993_Ile2994insTer)

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