ClinVar Miner

List of variants in gene CRX reported as pathogenic by Genomics England Pilot Project, Genomics England

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
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_000554.6(CRX):c.121C>T (p.Arg41Trp)	rs104894672	0.00001
NM_000554.6(CRX):c.522_523dup (p.Gln175fs)	rs2123743198

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