List of variants in gene PRPH2 reported as likely pathogenic for Vitelliform macular dystrophy 3

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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.94A>G (p.Ile32Val)	rs61755767	0.00033
NM_000322.5(PRPH2):c.530T>G (p.Ile177Ser)	rs748478593
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)	rs61755809
NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg)	rs61755817
NM_000322.5(PRPH2):c.934del (p.Val312fs)	rs1799986608

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