List of variants in gene PRPH2 reported as 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.113del (p.Gly38fs)	rs61755769
NM_000322.5(PRPH2):c.2T>C (p.Met1Thr)	rs121918565
NM_000322.5(PRPH2):c.316_317del (p.Val106fs)	rs1562434117
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	rs61755781
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	rs61755793
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)	rs61755798
NM_000322.5(PRPH2):c.774C>A (p.Tyr258Ter)	rs121918564
NM_000322.5(PRPH2):c.824_828+3delinsCATTTGGGCTCCTCATTTGG	rs2152005182
NM_000322.5(PRPH2):c.947G>A (p.Trp316Ter)	rs121918566

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