List of variants in gene PRPH2 reported as pathogenic by OMIM

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: 24

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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
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)	rs121918563	0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)	rs61755806	0.00001
NM_000322.5(PRPH2):c.113del (p.Gly38fs)	rs61755769
NM_000322.5(PRPH2):c.2T>C (p.Met1Thr)	rs121918565
NM_000322.5(PRPH2):c.353GCT[1] (p.Cys119del)	rs61755777
NM_000322.5(PRPH2):c.418_421dup (p.Tyr141fs)	rs672601326
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	rs61755781
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del)	rs61755786
NM_000322.5(PRPH2):c.500G>A (p.Gly167Asp)	rs61755789
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	rs61755792
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	rs61755793
NM_000322.5(PRPH2):c.518A>T (p.Asp173Val)	rs61755794
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu)	rs121918567
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)	rs61755798
NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg)	rs61755802
NM_000322.5(PRPH2):c.656_658del (p.Pro219del)	rs61755807
NM_000322.5(PRPH2):c.732C>A (p.Asn244Lys)	rs61755816
NM_000322.5(PRPH2):c.73_74del (p.Trp25fs)	rs61755765
NM_000322.5(PRPH2):c.774C>A (p.Tyr258Ter)	rs121918564
NM_000322.5(PRPH2):c.897_898del (p.Ser301fs)	rs61748429
NM_000322.5(PRPH2):c.920del (p.Leu307fs)	rs61748433
NM_000322.5(PRPH2):c.947G>A (p.Trp316Ter)	rs121918566

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