ClinVar Miner

List of variants in gene PRPH2 reported as pathogenic by Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana

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_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	rs61755771	0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	rs61755783	0.00001

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