ClinVar Miner

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

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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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