ClinVar Miner

List of variants in gene PRPH2 reported as likely 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_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)	rs61755803	0.00001
NM_000322.5(PRPH2):c.828+3A>T	rs281865373

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