ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome with ocular defect by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (8):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)	rs199469707	0.00006
NM_001044385.3(TMEM237):c.275-2A>G	rs1574582671
NM_018718.3(CEP41):c.423-2A>C	rs781815473

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