ClinVar Miner

List of variants reported as uncertain significance for retinal ciliopathy by Institute of Human Genetics, University of Leipzig Medical Center

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.4354G>A (p.Glu1452Lys)	rs142106374	0.00009
NM_014714.4(IFT140):c.1541_1542delinsAA (p.Leu514Gln)	rs886043802

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