List of variants in gene PRPH2 reported as pathogenic for Pigmentary retinal dystrophy

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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.2T>G (p.Met1Arg)	rs121918565
NM_000322.5(PRPH2):c.498C>A (p.Cys166Ter)	rs759752477
NM_000322.5(PRPH2):c.609_625del (p.Tyr204fs)	rs281865372
NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter)	rs1554269046

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