ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome with oculorenal defect by Revvity Omics, Revvity

Included ClinVar conditions (19):

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: 2

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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.62del (p.Pro21fs)	rs1574587553

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