List of variants in gene PRPH2 reported as likely pathogenic by Institute of Medical Molecular Genetics, University of Zurich

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)	rs61755767	0.00026
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	rs61755783	0.00001
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	rs61755781
NM_000322.5(PRPH2):c.512T>G (p.Phe171Cys)	rs1761906682
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	rs61755792
NM_000322.5(PRPH2):c.605G>A (p.Gly202Glu)	rs1800117660
NM_000322.5(PRPH2):c.611_626del (p.Tyr204fs)	rs1800116472

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