List of variants in gene PRPH2 reported as pathogenic for cone-rod dystrophy 2

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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.828+3A>T	rs281865373	0.00001
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	rs61755781
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del)	rs61755786
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	rs61755792
NM_000322.5(PRPH2):c.738G>A (p.Trp246Ter)	rs1800111659

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