ClinVar Miner

List of variants studied for Leber congenital amaurosis 2; Retinitis pigmentosa 20; Retinitis pigmentosa 87 with choroidal involvement

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr) rs767528365 0.00012
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873 0.00011
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993 0.00009
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_000329.3(RPE65):c.253C>T (p.Arg85Cys) rs763317722 0.00008
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391 0.00004
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser) rs144612129 0.00004
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281 0.00003
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu) rs201062742 0.00003
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) rs121917744 0.00002
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) rs62637004 0.00002
NM_000329.3(RPE65):c.1544G>A (p.Arg515Gln) rs559975684 0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000329.3(RPE65):c.1244C>T (p.Ala415Val) rs1064795255 0.00001
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) rs62636299 0.00001
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr) rs577335767 0.00001
NM_000329.3(RPE65):c.2T>C (p.Met1Thr) rs281865285 0.00001
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro) rs774309607 0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883 0.00001
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) rs61752904 0.00001
NM_000329.3(RPE65):c.95-2A>T rs61751279 0.00001
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1059dup (p.Lys354fs) rs2100817031
NM_000329.3(RPE65):c.1088C>T (p.Pro363Leu)
NM_000329.3(RPE65):c.1244-1G>A
NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)
NM_000329.3(RPE65):c.1307G>A (p.Gly436Glu) rs62637002
NM_000329.3(RPE65):c.1336dup (p.Arg446fs)
NM_000329.3(RPE65):c.1338+1G>A rs1057518922
NM_000329.3(RPE65):c.1416del (p.Phe472fs)
NM_000329.3(RPE65):c.143G>A (p.Gly48Glu) rs2100831413
NM_000329.3(RPE65):c.1450+13A>C rs371783875
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000329.3(RPE65):c.304G>A (p.Glu102Lys) rs62642584
NM_000329.3(RPE65):c.41_42del (p.Lys14fs)
NM_000329.3(RPE65):c.440_441del (p.Thr147fs) rs1201299067
NM_000329.3(RPE65):c.540C>A (p.His180Gln)
NM_000329.3(RPE65):c.61del (p.Glu21fs) rs758550330
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.726-2A>T rs878853372
NM_000329.3(RPE65):c.858+1del
NM_000329.3(RPE65):c.864G>A (p.Trp288Ter)
NM_000329.3(RPE65):c.886dup (p.Arg296fs) rs746127684
NM_000329.3(RPE65):c.893del (p.Lys298fs) rs61752902
NM_000329.3(RPE65):c.89dup (p.Thr31fs) rs281865286
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) rs1169420841

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