ClinVar Miner

List of variants reported as likely pathogenic for Pigmentary retinal dystrophy

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter) rs151141842 0.00014
NM_002905.5(RDH5):c.208C>T (p.Arg70Trp) rs1058635 0.00009
NM_000539.3(RHO):c.759G>T (p.Met253Ile) rs756658659 0.00004
NM_000326.5(RLBP1):c.602T>C (p.Ile201Thr) rs138965708 0.00003
NM_002905.5(RDH5):c.382G>A (p.Asp128Asn) rs377029071 0.00002
NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln) rs137853290 0.00001
NM_000539.3(RHO):c.551A>G (p.Gln184Arg) rs1402468701 0.00001
NM_002905.5(RDH5):c.394G>A (p.Val132Met) rs62638187 0.00001
NM_002905.5(RDH5):c.880G>C (p.Ala294Pro) rs111033593 0.00001
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly) rs61755796
NM_000322.5(PRPH2):c.793dup (p.Met265fs) rs1800110234
NM_000539.3(RHO):c.260T>A (p.Val87Asp) rs104893771
NM_002905.5(RDH5):c.-33+2dup rs1565653781
NM_002905.5(RDH5):c.248dup (p.Thr84fs) rs1876913255

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