ClinVar Miner

List of variants reported as likely pathogenic for retinal ciliopathy by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (11):

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_014714.4(IFT140):c.1565G>A (p.Gly522Glu)	rs199826737	0.00009
NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu)	rs775044452	0.00001

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