List of variants in gene PRPH2 reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)	rs139185976	0.00010
NM_000322.5(PRPH2):c.625G>T (p.Val209Phe)	rs753657349
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly)	rs61755800
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg)	rs1554269053
NM_000322.5(PRPH2):c.860_867del (p.Gln287fs)	rs1554268546

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