ClinVar Miner

List of variants in gene RPGRIP1 reported as pathogenic for Cone dystrophy

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile)	rs1057519200	0.00001
NM_020366.4(RPGRIP1):c.2432T>A (p.Leu811His)	rs1883036406

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