List of variants in gene PRPH2 studied for Cone-Rod Dystrophy, Dominant

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000322.4(PRPH2):c.-282G>A	rs886061408	0.00001
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly)	rs767471467	0.00001
NM_000322.5(PRPH2):c.468_469del	rs886061401
NM_000322.5(PRPH2):c.483_484dup	rs55851577
NM_000322.5(PRPH2):c.*484del	rs55851577

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