List of variants in gene PRPH2 reported as pathogenic by Sharon lab, Hadassah-Hebrew University Medical Center

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	rs61755783	0.00001
NM_000322.5(PRPH2):c.441del (p.Gly148fs)	rs61755784
NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter)	rs1554269081
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del)	rs1582764519

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