ClinVar Miner

List of variants reported as pathogenic for retinal ciliopathy by Genomics England Pilot Project, Genomics England

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.1021G>A (p.Ala341Thr)	rs200292484	0.00006
NM_014714.4(IFT140):c.1422_1423insAA (p.Arg475fs)	rs2141800223

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