List of variants in gene PRPH2 reported as pathogenic by Dept Of Ophthalmology, Nagoya University

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	rs61755771	0.00002
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	rs61755783	0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)	rs61755806	0.00001
NM_000322.5(PRPH2):c.409G>C (p.Gly137Arg)	rs781256236
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	rs61755792
NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu)	rs61755798
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)	rs61755809
NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter)	rs61755813
NM_000322.5(PRPH2):c.730A>C (p.Asn244His)	rs61755815
NM_000322.5(PRPH2):c.732C>A (p.Asn244Lys)	rs61755816
NM_000322.5(PRPH2):c.748T>G (p.Cys250Gly)	rs1064793931

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