List of variants in gene PRPH2 reported as likely pathogenic for Adult-onset foveomacular vitelliform 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.246_249del (p.Cys82fs)	rs1761915143
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr)	rs61755801
NM_000322.5(PRPH2):c.636C>G (p.Ser212Arg)	rs1554269071
NM_000322.5(PRPH2):c.668T>C (p.Ile223Thr)	rs1800114220
NM_000322.5(PRPH2):c.829-1G>A	rs1582759782
NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter)	rs61748430

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