ClinVar Miner

List of variants in gene RPE65 reported as pathogenic for Leber congenital amaurosis 2; Retinitis pigmentosa 20

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Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583 0.00014
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
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.242G>T (p.Arg81Ile) rs1429137932 0.00009
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282 0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00004
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281 0.00003
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745 0.00003
NM_000329.3(RPE65):c.331C>T (p.Pro111Ser) rs886042220 0.00003
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905 0.00003
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) rs121917744 0.00002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586 0.00002
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584 0.00002
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) rs61752896 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.1223T>C (p.Leu408Pro) rs62636298 0.00001
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) rs62636299 0.00001
NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala) rs1395763356 0.00001
NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly) rs749242996 0.00001
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val) rs62653015 0.00001
NM_000329.3(RPE65):c.2T>C (p.Met1Thr) rs281865285 0.00001
NM_000329.3(RPE65):c.344T>C (p.Ile115Thr) rs1645929674 0.00001
NM_000329.3(RPE65):c.493C>T (p.Gln165Ter) rs1202384396 0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883 0.00001
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) rs752058510 0.00001
NM_000329.3(RPE65):c.644-2A>C rs61752891 0.00001
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895 0.00001
NM_000329.3(RPE65):c.725+2T>A rs1355979496 0.00001
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) rs61752904 0.00001
NM_000329.3(RPE65):c.917C>T (p.Thr306Ile) rs1171545533 0.00001
NM_000329.3(RPE65):c.95-2A>T rs61751279 0.00001
NM_000329.3(RPE65):c.992G>A (p.Trp331Ter) rs761471961 0.00001
NM_000329.3(RPE65):c.993G>A (p.Trp331Ter) rs1645879569 0.00001
NC_000001.10:g.(?_68895449)_(68915598_?)del
NC_000001.10:g.(?_68910194)_(68912563_?)del
NC_000001.10:g.(?_68912383)_(68912553_?)del
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1002del (p.Phe334fs)
NM_000329.3(RPE65):c.1028T>G (p.Leu343Ter) rs2100817136
NM_000329.3(RPE65):c.1039C>T (p.Arg347Cys)
NM_000329.3(RPE65):c.1059dup (p.Lys354fs) rs2100817031
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro) rs62646883
NM_000329.3(RPE65):c.10C>T (p.Gln4Ter)
NM_000329.3(RPE65):c.10del (p.Gln4fs) rs747393487
NM_000329.3(RPE65):c.1115dup (p.Leu372fs) rs2100816844
NM_000329.3(RPE65):c.1148T>G (p.Leu383Ter)
NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs) rs62636295
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr) rs1571158755
NM_000329.3(RPE65):c.1269C>A (p.Tyr423Ter)
NM_000329.3(RPE65):c.1282_1303del (p.Gly428fs)
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)
NM_000329.3(RPE65):c.1299T>A (p.Tyr433Ter)
NM_000329.3(RPE65):c.131G>C (p.Arg44Pro)
NM_000329.3(RPE65):c.1338+1G>A rs1057518922
NM_000329.3(RPE65):c.1360del (p.Thr454fs) rs2100807036
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter) rs1645823028
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter) rs62637006
NM_000329.3(RPE65):c.1396_1397dup (p.Pro467fs)
NM_000329.3(RPE65):c.1398C>A (p.Tyr466Ter)
NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu) rs774211361
NM_000329.3(RPE65):c.142_143del (p.Gly48fs)
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) rs1571158279
NM_000329.3(RPE65):c.1451-1G>A rs1317871521
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.1459del (p.Val486_Leu487insTer)
NM_000329.3(RPE65):c.147_148insCAAA (p.Phe50fs) rs1645945978
NM_000329.3(RPE65):c.1501_1505del (p.Tyr501fs) rs2100805193
NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu) rs2100804954
NM_000329.3(RPE65):c.1590del (p.Phe530fs) rs281865292
NM_000329.3(RPE65):c.200T>G (p.Leu67Arg) rs1344724754
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000329.3(RPE65):c.247T>C (p.Phe83Leu) rs2100828545
NM_000329.3(RPE65):c.311G>A (p.Gly104Asp)
NM_000329.3(RPE65):c.336C>A (p.Cys112Ter)
NM_000329.3(RPE65):c.34dup (p.Tyr12fs)
NM_000329.3(RPE65):c.361del (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.361dup (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.366C>A (p.Tyr122Ter)
NM_000329.3(RPE65):c.3G>A (p.Met1Ile) rs1357241537
NM_000329.3(RPE65):c.405T>A (p.Asn135Lys) rs1645928294
NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)
NM_000329.3(RPE65):c.411C>G (p.Tyr137Ter)
NM_000329.3(RPE65):c.421G>T (p.Glu141Ter) rs1469460289
NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp) rs61752880
NM_000329.3(RPE65):c.432C>G (p.Tyr144Ter) rs56021047
NM_000329.3(RPE65):c.440_441del (p.Thr147fs) rs1201299067
NM_000329.3(RPE65):c.46_49del (p.Phe16fs) rs866809120
NM_000329.3(RPE65):c.495+1dup rs281865288
NM_000329.3(RPE65):c.504_580del (p.Cys169fs) rs2100821707
NM_000329.3(RPE65):c.507C>A (p.Cys169Ter) rs1645898563
NM_000329.3(RPE65):c.513T>A (p.Tyr171Ter)
NM_000329.3(RPE65):c.528_529del (p.Ala177fs) rs2100821898
NM_000329.3(RPE65):c.544C>T (p.His182Tyr) rs61752884
NM_000329.3(RPE65):c.545A>G (p.His182Arg) rs1459110114
NM_000329.3(RPE65):c.596del (p.Asn199fs)
NM_000329.3(RPE65):c.601del (p.Ser201fs)
NM_000329.3(RPE65):c.615_616del (p.Ile206fs) rs61752888
NM_000329.3(RPE65):c.61G>T (p.Glu21Ter)
NM_000329.3(RPE65):c.61del (p.Glu21fs) rs758550330
NM_000329.3(RPE65):c.637C>T (p.Gln213Ter) rs777966849
NM_000329.3(RPE65):c.644-1G>A
NM_000329.3(RPE65):c.646A>T (p.Lys216Ter)
NM_000329.3(RPE65):c.672_673del (p.Glu224fs)
NM_000329.3(RPE65):c.706A>T (p.Lys236Ter) rs1645885900
NM_000329.3(RPE65):c.716dup (p.Tyr239Ter)
NM_000329.3(RPE65):c.717C>G (p.Tyr239Ter)
NM_000329.3(RPE65):c.725+1G>A rs1260969698
NM_000329.3(RPE65):c.725+1G>T
NM_000329.3(RPE65):c.725+2T>C rs1355979496
NM_000329.3(RPE65):c.726-1G>A
NM_000329.3(RPE65):c.726-2A>C rs878853372
NM_000329.3(RPE65):c.726-2A>T rs878853372
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys) rs373652862
NM_000329.3(RPE65):c.750del (p.Ile250fs)
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) rs1553153135
NM_000329.3(RPE65):c.775dup (p.Ile259fs) rs2100819197
NM_000329.3(RPE65):c.777dup (p.Asn260Ter) rs2100819190
NM_000329.3(RPE65):c.803G>A (p.Trp268Ter)
NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter) rs988133284
NM_000329.3(RPE65):c.829_833del (p.Asp277fs) rs1645882447
NM_000329.3(RPE65):c.858+1G>A rs61752899
NM_000329.3(RPE65):c.858+1G>C
NM_000329.3(RPE65):c.858+1G>T rs61752899
NM_000329.3(RPE65):c.886del (p.Arg296fs) rs746127684
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.912C>G (p.Tyr304Ter) rs2100818575
NM_000329.3(RPE65):c.943_950del (p.Ile315fs) rs2100818444
NM_000329.3(RPE65):c.94G>T (p.Gly32Cys) rs768448761
NM_000329.3(RPE65):c.95-1G>C
NM_000329.3(RPE65):c.962dup (p.Asn321fs) rs61752906
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) rs1169420841
NM_000329.3(RPE65):c.985del (p.Cys329fs)
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) rs61752908
NM_000329.3(RPE65):c.991_993dup (p.Trp331dup) rs1571165140
NM_000329.3(RPE65):c.998+1G>A rs1645879495
NM_000329.3(RPE65):c.999-2A>G

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