ClinVar Miner

List of variants studied for Vitelliform macular dystrophy 3 by OMIM

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Total variants: 6
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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.422A>G (p.Tyr141Cys) rs61755781
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.947G>A (p.Trp316Ter) rs121918566

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