List of variants in gene PRPH2 reported as likely benign for central areolar choroidal 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe)	rs61755770	0.00414
NM_000322.5(PRPH2):c.252C>T (p.Asp84=)	rs139936445	0.00017
NM_000322.5(PRPH2):c.1008C>T (p.Gly336=)	rs752365478	0.00006
NM_000322.5(PRPH2):c.888C>T (p.Pro296=)	rs183714869	0.00005
NM_000322.5(PRPH2):c.852C>A (p.Arg284=)	rs745807357	0.00001
NM_000322.5(PRPH2):c.*484del	rs55851577
NM_000322.5(PRPH2):c.483C>T (p.Ile161=)	rs76989855

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