ClinVar Miner

List of variants in gene LRPPRC studied for Leigh syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 488
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HGVS dbSNP gnomAD frequency
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066 0.69341
NM_133259.4(LRPPRC):c.*1665C>T rs1139250 0.63748
NM_133259.4(LRPPRC):c.2896+26C>T rs4952694 0.61459
NM_133259.4(LRPPRC):c.2806-110C>A rs4953039 0.60195
NM_133259.4(LRPPRC):c.4128+37G>A rs2955280 0.59328
NM_133259.4(LRPPRC):c.2080-40A>C rs7594526 0.50485
NM_133259.4(LRPPRC):c.2296+27T>G rs28394191 0.47876
NM_133259.4(LRPPRC):c.150-233G>T rs4276071 0.36352
NM_133259.4(LRPPRC):c.738-70T>C rs17031786 0.21424
NM_133259.4(LRPPRC):c.1155+30A>G rs7593842 0.21391
NM_133259.4(LRPPRC):c.1843-28T>G rs72877186 0.21363
NM_133259.4(LRPPRC):c.1677+152G>A rs59338949 0.19606
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042 0.14931
NM_133259.4(LRPPRC):c.3900+14C>T rs3795859 0.10271
NM_133259.4(LRPPRC):c.3900+15C>T rs76850904 0.09620
NM_133259.4(LRPPRC):c.3275+97T>C rs17424482 0.08642
NM_133259.4(LRPPRC):c.*1458A>G rs371572374 0.07783
NM_133259.4(LRPPRC):c.*556A>T rs1136998 0.07663
NM_133259.4(LRPPRC):c.149+57G>T rs62135152 0.06847
NM_133259.4(LRPPRC):c.1582+28T>C rs62135104 0.06827
NM_133259.3(LRPPRC):c.-45G>A rs11124961 0.05742
NM_133259.4(LRPPRC):c.1921-54A>T rs35768060 0.04572
NM_133259.4(LRPPRC):c.3570-3C>T rs35113761 0.02876
NM_133259.4(LRPPRC):c.41C>G (p.Ala14Gly) rs114205971 0.02459
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) rs35881858 0.02080
NM_133259.4(LRPPRC):c.*2176A>T rs73924082 0.01948
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668 0.01872
NM_133259.4(LRPPRC):c.*825A>G rs17031753 0.01776
NM_133259.4(LRPPRC):c.*1088G>C rs79225555 0.01767
NM_133259.4(LRPPRC):c.*1435C>T rs78163628 0.01439
NM_133259.4(LRPPRC):c.*1371C>T rs111381413 0.01377
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798 0.01150
NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp) rs113974315 0.00985
NM_133259.4(LRPPRC):c.*1343G>C rs75002669 0.00947
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=) rs115993634 0.00825
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe) rs116727742 0.00819
NM_133259.4(LRPPRC):c.*734A>G rs114517881 0.00810
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274 0.00631
NM_133259.4(LRPPRC):c.1736-14G>A rs116117684 0.00552
NM_133259.4(LRPPRC):c.*399G>A rs149268737 0.00473
NM_133259.4(LRPPRC):c.1529C>G (p.Ala510Gly) rs115693730 0.00414
NM_133259.4(LRPPRC):c.*343C>T rs144519599 0.00392
NM_133259.4(LRPPRC):c.*1335T>C rs76970610 0.00348
NM_133259.4(LRPPRC):c.2325A>G (p.Lys775=) rs139634347 0.00249
NM_133259.4(LRPPRC):c.3034C>T (p.Pro1012Ser) rs113374262 0.00239
NM_133259.4(LRPPRC):c.738-18T>C rs189675905 0.00173
NM_133259.4(LRPPRC):c.*1152C>G rs562361644 0.00169
NM_133259.4(LRPPRC):c.3148+12C>T rs199684766 0.00153
NM_133259.4(LRPPRC):c.*1564G>A rs142436911 0.00152
NM_133259.4(LRPPRC):c.3275+7G>A rs111392631 0.00152
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_133259.4(LRPPRC):c.*1981A>T rs180886841 0.00129
NM_133259.4(LRPPRC):c.3030C>T (p.Asp1010=) rs147000685 0.00118
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp) rs146515622 0.00102
NM_133259.4(LRPPRC):c.*1563C>T rs186518252 0.00096
NM_133259.4(LRPPRC):c.1295A>G (p.Glu432Gly) rs144732922 0.00091
NM_133259.4(LRPPRC):c.*1872C>T rs147686285 0.00090
NM_133259.4(LRPPRC):c.*577G>T rs183378286 0.00084
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) rs148575027 0.00074
NM_133259.4(LRPPRC):c.-11A>G rs188424940 0.00066
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala) rs115507225 0.00066
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu) rs144826521 0.00058
NM_133259.4(LRPPRC):c.2118A>G (p.Glu706=) rs118188415 0.00052
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His) rs780400922 0.00051
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) rs147302249 0.00041
NM_133259.4(LRPPRC):c.1842+10C>T rs373649496 0.00040
NM_133259.4(LRPPRC):c.2020G>A (p.Glu674Lys) rs149243712 0.00039
NM_133259.4(LRPPRC):c.*1911G>A rs533572540 0.00036
NM_133259.4(LRPPRC):c.1920+11A>G rs373513189 0.00034
NM_133259.4(LRPPRC):c.*1584G>A rs372330583 0.00031
NM_133259.4(LRPPRC):c.*2376C>G rs886056040 0.00030
NM_133259.4(LRPPRC):c.*1121G>T rs371325663 0.00026
NM_133259.4(LRPPRC):c.*2289A>T rs777772528 0.00026
NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly) rs149693840 0.00024
NM_133259.4(LRPPRC):c.620A>T (p.Tyr207Phe) rs146293544 0.00022
NM_133259.4(LRPPRC):c.1929C>T (p.His643=) rs200017171 0.00019
NM_133259.4(LRPPRC):c.2210+10C>T rs200747013 0.00019
NM_133259.4(LRPPRC):c.908G>A (p.Arg303His) rs745653250 0.00019
NM_133259.4(LRPPRC):c.*409C>G rs187382374 0.00017
NM_133259.4(LRPPRC):c.*2099C>A rs771863074 0.00016
NM_133259.4(LRPPRC):c.*2192A>G rs189755235 0.00016
NM_133259.4(LRPPRC):c.*2224A>C rs757205247 0.00016
NM_133259.4(LRPPRC):c.*456G>C rs886056052 0.00016
NM_133259.4(LRPPRC):c.1262-12T>C rs149449510 0.00016
NM_133259.4(LRPPRC):c.141C>G (p.Pro47=) rs559176918 0.00016
NM_133259.4(LRPPRC):c.1583-14A>G rs372371276 0.00016
NM_133259.4(LRPPRC):c.179C>T (p.Ala60Val) rs546399905 0.00015
NM_133259.4(LRPPRC):c.2569A>G (p.Arg857Gly) rs200138144 0.00014
NM_133259.4(LRPPRC):c.2392T>C (p.Leu798=) rs373554506 0.00013
NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys) rs199706677 0.00013
NM_133259.4(LRPPRC):c.1253A>G (p.Asn418Ser) rs373908553 0.00010
NM_133259.4(LRPPRC):c.2610G>C (p.Glu870Asp) rs139192988 0.00010
NM_133259.4(LRPPRC):c.3901-6T>G rs553466522 0.00010
NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs) rs759052246 0.00010
NM_133259.4(LRPPRC):c.70C>G (p.Leu24Val) rs749629864 0.00010
NM_133259.4(LRPPRC):c.888C>T (p.Ser296=) rs762093225 0.00010
NM_133259.4(LRPPRC):c.*1894C>T rs563480210 0.00009
NM_133259.4(LRPPRC):c.*2245A>G rs758080975 0.00009
NM_133259.4(LRPPRC):c.295C>T (p.Arg99Cys) rs771473230 0.00009
NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys) rs760016065 0.00009
NM_133259.4(LRPPRC):c.3586G>A (p.Ala1196Thr) rs142097048 0.00009
NM_133259.4(LRPPRC):c.587A>C (p.Asn196Thr) rs199727887 0.00009
NM_133259.4(LRPPRC):c.*996A>G rs572718388 0.00008
NM_133259.4(LRPPRC):c.116A>G (p.Tyr39Cys) rs1014582333 0.00007
NM_133259.4(LRPPRC):c.4056T>A (p.Asp1352Glu) rs146630100 0.00007
NM_133259.4(LRPPRC):c.802G>C (p.Asp268His) rs756849117 0.00007
NM_133259.4(LRPPRC):c.*1372G>A rs750310194 0.00006
NM_133259.4(LRPPRC):c.*1587C>T rs886056046 0.00006
NM_133259.4(LRPPRC):c.*1653G>A rs886056045 0.00006
NM_133259.4(LRPPRC):c.*518A>T rs138559252 0.00006
NM_133259.4(LRPPRC):c.*667C>T rs533028399 0.00006
NM_133259.4(LRPPRC):c.1009+15A>T rs572849791 0.00006
NM_133259.4(LRPPRC):c.109G>T (p.Ala37Ser) rs763948159 0.00006
NM_133259.4(LRPPRC):c.1880G>A (p.Arg627His) rs373011028 0.00006
NM_133259.4(LRPPRC):c.3578T>C (p.Ile1193Thr) rs370537508 0.00006
NM_133259.4(LRPPRC):c.3666C>T (p.Phe1222=) rs145105621 0.00006
NM_133259.4(LRPPRC):c.4077C>T (p.Tyr1359=) rs148828179 0.00006
NM_133259.4(LRPPRC):c.803A>C (p.Asp268Ala) rs143290138 0.00006
NM_133259.4(LRPPRC):c.*485C>T rs886056051 0.00005
NM_133259.4(LRPPRC):c.1678-7T>C rs201370020 0.00005
NM_133259.4(LRPPRC):c.2141A>G (p.Tyr714Cys) rs375559765 0.00005
NM_133259.4(LRPPRC):c.*218A>G rs949524933 0.00004
NM_133259.4(LRPPRC):c.*2230A>C rs866243257 0.00004
NM_133259.4(LRPPRC):c.*587C>T rs760992842 0.00004
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=) rs886056063 0.00004
NM_133259.4(LRPPRC):c.1211C>A (p.Ser404Tyr) rs148016991 0.00004
NM_133259.4(LRPPRC):c.1300G>A (p.Gly434Ser) rs760756132 0.00004
NM_133259.4(LRPPRC):c.2228C>T (p.Ser743Phe) rs779873239 0.00004
NM_133259.4(LRPPRC):c.2904C>T (p.Asn968=) rs1052539943 0.00004
NM_133259.4(LRPPRC):c.3277G>A (p.Ala1093Thr) rs200611889 0.00004
NM_133259.4(LRPPRC):c.3855G>C (p.Pro1285=) rs571550652 0.00004
NM_133259.4(LRPPRC):c.3935C>G (p.Pro1312Arg) rs747154844 0.00004
NM_133259.4(LRPPRC):c.3999T>C (p.Asp1333=) rs202177904 0.00004
NM_133259.4(LRPPRC):c.4177T>G (p.Ser1393Ala) rs139493671 0.00004
NM_133259.4(LRPPRC):c.843C>T (p.Gly281=) rs766703715 0.00004
NM_133259.4(LRPPRC):c.*110G>A rs997583952 0.00003
NM_133259.4(LRPPRC):c.*1816T>C rs886056043 0.00003
NM_133259.4(LRPPRC):c.*1961T>C rs541683193 0.00003
NM_133259.4(LRPPRC):c.-19C>G rs574328970 0.00003
NM_133259.4(LRPPRC):c.1219C>G (p.Leu407Val) rs368164663 0.00003
NM_133259.4(LRPPRC):c.130C>G (p.Arg44Gly) rs886056062 0.00003
NM_133259.4(LRPPRC):c.1369+5G>A rs199628926 0.00003
NM_133259.4(LRPPRC):c.276T>C (p.Leu92=) rs187590711 0.00003
NM_133259.4(LRPPRC):c.442A>C (p.Arg148=) rs138378033 0.00003
NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys) rs187584458 0.00003
NM_133259.4(LRPPRC):c.*1895G>A rs886056042 0.00002
NM_133259.4(LRPPRC):c.1075C>T (p.Leu359=) rs768509632 0.00002
NM_133259.4(LRPPRC):c.108C>T (p.Ala36=) rs751637061 0.00002
NM_133259.4(LRPPRC):c.111C>T (p.Ala37=) rs975809121 0.00002
NM_133259.4(LRPPRC):c.1558A>G (p.Asn520Asp) rs754771907 0.00002
NM_133259.4(LRPPRC):c.1578A>G (p.Ser526=) rs775445022 0.00002
NM_133259.4(LRPPRC):c.1677+7C>T rs374995996 0.00002
NM_133259.4(LRPPRC):c.2056A>G (p.Ile686Val) rs750526576 0.00002
NM_133259.4(LRPPRC):c.2072C>T (p.Ser691Leu) rs372341254 0.00002
NM_133259.4(LRPPRC):c.2079+10G>A rs545497810 0.00002
NM_133259.4(LRPPRC):c.3411T>C (p.Pro1137=) rs765813800 0.00002
NM_133259.4(LRPPRC):c.525T>C (p.Asn175=) rs570349090 0.00002
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=) rs886056064 0.00002
NM_133259.4(LRPPRC):c.*1370G>A rs1319087266 0.00001
NM_133259.4(LRPPRC):c.*1719G>A rs1670288640 0.00001
NM_133259.4(LRPPRC):c.*2277A>G rs886056041 0.00001
NM_133259.4(LRPPRC):c.*420C>T rs1354819175 0.00001
NM_133259.4(LRPPRC):c.*534G>T rs553327890 0.00001
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val) rs119466000 0.00001
NM_133259.4(LRPPRC):c.1236T>C (p.His412=) rs764634151 0.00001
NM_133259.4(LRPPRC):c.1305T>C (p.Phe435=) rs886056059 0.00001
NM_133259.4(LRPPRC):c.1488+8C>G rs772715775 0.00001
NM_133259.4(LRPPRC):c.1547C>T (p.Ala516Val) rs1294325794 0.00001
NM_133259.4(LRPPRC):c.1582+7A>G rs863225446 0.00001
NM_133259.4(LRPPRC):c.1723C>T (p.Arg575Ter) rs774934005 0.00001
NM_133259.4(LRPPRC):c.1765A>T (p.Ile589Phe) rs760086210 0.00001
NM_133259.4(LRPPRC):c.1863T>G (p.Asn621Lys) rs762224854 0.00001
NM_133259.4(LRPPRC):c.1921-7A>G rs779696239 0.00001
NM_133259.4(LRPPRC):c.1998C>T (p.Ser666=) rs1421341249 0.00001
NM_133259.4(LRPPRC):c.2216G>A (p.Arg739His) rs187274438 0.00001
NM_133259.4(LRPPRC):c.2326G>T (p.Glu776Ter) rs758615834 0.00001
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=) rs886056056 0.00001
NM_133259.4(LRPPRC):c.244C>T (p.Gln82Ter) rs754855090 0.00001
NM_133259.4(LRPPRC):c.254G>A (p.Trp85Ter) rs1453934366 0.00001
NM_133259.4(LRPPRC):c.2755C>T (p.Arg919Ter) rs1166980943 0.00001
NM_133259.4(LRPPRC):c.3174A>G (p.Ala1058=) rs755280196 0.00001
NM_133259.4(LRPPRC):c.3364+6T>A rs543620356 0.00001
NM_133259.4(LRPPRC):c.3473T>C (p.Ile1158Thr) rs911047642 0.00001
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg) rs140482502 0.00001
NM_133259.4(LRPPRC):c.3648C>T (p.Phe1216=) rs370683872 0.00001
NM_133259.4(LRPPRC):c.3673G>C (p.Val1225Leu) rs776488880 0.00001
NM_133259.4(LRPPRC):c.3737A>G (p.Asn1246Ser) rs886056054 0.00001
NM_133259.4(LRPPRC):c.4128+1G>A rs1475772376 0.00001
NM_133259.4(LRPPRC):c.4128dup (p.Glu1377Ter) rs1163476569 0.00001
NM_133259.4(LRPPRC):c.650+1G>C rs1249427615 0.00001
NM_133259.4(LRPPRC):c.777A>G (p.Arg259=) rs749089358 0.00001
NM_133259.4(LRPPRC):c.864+2T>C rs863224053 0.00001
NM_133259.4(LRPPRC):c.8C>T (p.Ala3Val) rs886056065 0.00001
LRPPRC, 8-BP DEL, EXON 35
NC_000002.12:g.43986415_44009956del
NM_133259.4(LRPPRC):c.*1355C>T rs1670301374
NM_133259.4(LRPPRC):c.*1387_*1390dup rs886056048
NM_133259.4(LRPPRC):c.*1435del rs886056047
NM_133259.4(LRPPRC):c.*1445_*1456dup rs57494476
NM_133259.4(LRPPRC):c.*1449_*1456dup rs57494476
NM_133259.4(LRPPRC):c.*1498G>A rs142253135
NM_133259.4(LRPPRC):c.*1652C>G rs1139249
NM_133259.4(LRPPRC):c.*1653G>T rs886056045
NM_133259.4(LRPPRC):c.*1665C>G rs1139250
NM_133259.4(LRPPRC):c.*1684C>A rs190524585
NM_133259.4(LRPPRC):c.*1685G>A rs774874630
NM_133259.4(LRPPRC):c.*1689G>T rs185767322
NM_133259.4(LRPPRC):c.*1717C>T rs1670288685
NM_133259.4(LRPPRC):c.*1752C>G rs1670287619
NM_133259.4(LRPPRC):c.*1806A>C rs886056044
NM_133259.4(LRPPRC):c.*1895G>T rs886056042
NM_133259.4(LRPPRC):c.*2041C>A rs7581308
NM_133259.4(LRPPRC):c.*2041C>T rs7581308
NM_133259.4(LRPPRC):c.*2042G>T rs998481979
NM_133259.4(LRPPRC):c.*2048dup rs546907287
NM_133259.4(LRPPRC):c.*2157T>A rs1376980323
NM_133259.4(LRPPRC):c.*590C>T rs886056050
NM_133259.4(LRPPRC):c.*647G>C rs886056049
NM_133259.4(LRPPRC):c.*735C>G rs1670322978
NM_133259.4(LRPPRC):c.1035A>G (p.Leu345=) rs1673950990
NM_133259.4(LRPPRC):c.1038C>T (p.Val346=) rs1673950899
NM_133259.4(LRPPRC):c.1082_1083delinsT (p.Cys361fs)
NM_133259.4(LRPPRC):c.1087G>A (p.Val363Ile)
NM_133259.4(LRPPRC):c.1091C>G (p.Ser364Ter) rs1553410995
NM_133259.4(LRPPRC):c.1092_1095del (p.Glu366fs) rs2103713116
NM_133259.4(LRPPRC):c.1115_1118delinsCTT (p.Phe372fs)
NM_133259.4(LRPPRC):c.1156-13dup rs747766605
NM_133259.4(LRPPRC):c.1156-2A>C
NM_133259.4(LRPPRC):c.1165A>T (p.Lys389Ter)
NM_133259.4(LRPPRC):c.1165_1198del (p.Lys389fs)
NM_133259.4(LRPPRC):c.1177T>C (p.Tyr393His) rs863224054
NM_133259.4(LRPPRC):c.1177T>G (p.Tyr393Asp) rs863224054
NM_133259.4(LRPPRC):c.1179C>A (p.Tyr393Ter)
NM_133259.4(LRPPRC):c.1195del (p.Glu399fs) rs1553410876
NM_133259.4(LRPPRC):c.1201C>T (p.Gln401Ter) rs1553410866
NM_133259.4(LRPPRC):c.1216C>T (p.Pro406Ser)
NM_133259.4(LRPPRC):c.1216_1237dup (p.Cys413fs)
NM_133259.4(LRPPRC):c.121C>T (p.Pro41Ser) rs908473003
NM_133259.4(LRPPRC):c.123del (p.Ala42fs)
NM_133259.4(LRPPRC):c.1248C>T (p.Leu416=) rs1263285909
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr) rs373908553
NM_133259.4(LRPPRC):c.1261+2T>C rs1553410852
NM_133259.4(LRPPRC):c.1277T>A (p.Leu426Ter)
NM_133259.4(LRPPRC):c.1299A>G (p.Glu433=) rs1673918352
NM_133259.4(LRPPRC):c.1316C>T (p.Pro439Leu) rs1391510968
NM_133259.4(LRPPRC):c.1343G>T (p.Gly448Val) rs886056058
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=) rs886056061
NM_133259.4(LRPPRC):c.1361del (p.Asn454fs) rs2103710225
NM_133259.4(LRPPRC):c.1369+1G>C
NM_133259.4(LRPPRC):c.1369+2T>A
NM_133259.4(LRPPRC):c.1378G>T (p.Glu460Ter)
NM_133259.4(LRPPRC):c.1385del (p.Leu462fs) rs1553408603
NM_133259.4(LRPPRC):c.1389_1393del (p.Lys463fs)
NM_133259.4(LRPPRC):c.1390G>C (p.Gly464Arg) rs957783084
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=) rs886056057
NM_133259.4(LRPPRC):c.1431T>G (p.Tyr477Ter) rs746627889
NM_133259.4(LRPPRC):c.1456G>A (p.Asp486Asn)
NM_133259.4(LRPPRC):c.1489-56T>G rs10190161
NM_133259.4(LRPPRC):c.149+1G>T
NM_133259.4(LRPPRC):c.1491A>T (p.Glu497Asp) rs571886021
NM_133259.4(LRPPRC):c.1493_1495delinsTTGT (p.Asn498fs)
NM_133259.4(LRPPRC):c.14_47delinsCTCAG (p.Leu5fs)
NM_133259.4(LRPPRC):c.1506T>C (p.Ser502=) rs1163183496
NM_133259.4(LRPPRC):c.1517_1518insAAAA (p.Met506fs)
NM_133259.4(LRPPRC):c.151G>T (p.Gly51Ter)
NM_133259.4(LRPPRC):c.1544_1548dup (p.Ala517fs)
NM_133259.4(LRPPRC):c.1550C>G (p.Ala517Gly)
NM_133259.4(LRPPRC):c.1557dup (p.Asn520fs)
NM_133259.4(LRPPRC):c.1574T>G (p.Leu525Ter)
NM_133259.4(LRPPRC):c.1577C>A (p.Ser526Ter) rs896524026
NM_133259.4(LRPPRC):c.1670G>A (p.Trp557Ter)
NM_133259.4(LRPPRC):c.1674C>T (p.Ser558=) rs376787135
NM_133259.4(LRPPRC):c.1677+11C>G rs58811869
NM_133259.4(LRPPRC):c.1677+1G>A
NM_133259.4(LRPPRC):c.1677+1G>T rs2103624540
NM_133259.4(LRPPRC):c.1678-2dup rs1553404545
NM_133259.4(LRPPRC):c.1695C>G (p.Tyr565Ter) rs1672822541
NM_133259.4(LRPPRC):c.1706G>A (p.Arg569His) rs762974687
NM_133259.4(LRPPRC):c.1722_1723del (p.Gly576fs) rs750343121
NM_133259.4(LRPPRC):c.1730_1735+1del
NM_133259.4(LRPPRC):c.1735+2T>C
NM_133259.4(LRPPRC):c.1735+5C>G rs373476696
NM_133259.4(LRPPRC):c.1748_1749dup (p.Phe584fs)
NM_133259.4(LRPPRC):c.1758T>G (p.Tyr586Ter)
NM_133259.4(LRPPRC):c.1762T>G (p.Leu588Val) rs775978547
NM_133259.4(LRPPRC):c.1775del (p.Met592fs)
NM_133259.4(LRPPRC):c.1841T>C (p.Met614Thr) rs374400665
NM_133259.4(LRPPRC):c.1842+2T>A rs1553404194
NM_133259.4(LRPPRC):c.1865_1868del (p.Ile622fs) rs752914914
NM_133259.4(LRPPRC):c.186_193delinsAAAA (p.Ala63fs)
NM_133259.4(LRPPRC):c.1887_1889del (p.Leu630del) rs1391434905
NM_133259.4(LRPPRC):c.1931T>A (p.Leu644Ter)
NM_133259.4(LRPPRC):c.1935_1937del (p.Leu645_Val646delinsPhe) rs1553403993
NM_133259.4(LRPPRC):c.1944_1947del (p.Ser648fs)
NM_133259.4(LRPPRC):c.1947_1948del (p.Asn650fs)
NM_133259.4(LRPPRC):c.1960C>T (p.Gln654Ter)
NM_133259.4(LRPPRC):c.1965+2T>C
NM_133259.4(LRPPRC):c.1966-2A>G
NM_133259.4(LRPPRC):c.1970_1971del (p.Val657fs) rs1553403879
NM_133259.4(LRPPRC):c.1972C>T (p.Gln658Ter)
NM_133259.4(LRPPRC):c.2024dup (p.Asn675fs)
NM_133259.4(LRPPRC):c.2039A>T (p.Asp680Val) rs863224056
NM_133259.4(LRPPRC):c.205C>T (p.Gln69Ter)
NM_133259.4(LRPPRC):c.2080-1G>C rs1553403596
NM_133259.4(LRPPRC):c.2086C>T (p.Gln696Ter)
NM_133259.4(LRPPRC):c.2106del (p.Ala703fs)
NM_133259.4(LRPPRC):c.2119dup (p.Ser707fs)
NM_133259.4(LRPPRC):c.2167C>T (p.Arg723Ter) rs1022152551
NM_133259.4(LRPPRC):c.2179G>A (p.Val727Ile) rs2105082493
NM_133259.4(LRPPRC):c.217A>G (p.Thr73Ala) rs1674350152
NM_133259.4(LRPPRC):c.2211-1G>A
NM_133259.4(LRPPRC):c.2225C>A (p.Ser742Ter)
NM_133259.4(LRPPRC):c.2246_2247insTATAAGAGACAGT (p.Lys750fs)
NM_133259.4(LRPPRC):c.2263G>A (p.Val755Ile)
NM_133259.4(LRPPRC):c.2285del (p.Gly762fs)
NM_133259.4(LRPPRC):c.2296+1G>A rs1553403303
NM_133259.4(LRPPRC):c.2343del (p.Asp783fs)
NM_133259.4(LRPPRC):c.2369del (p.Phe790fs)
NM_133259.4(LRPPRC):c.2369dup (p.His791fs) rs2105077651
NM_133259.4(LRPPRC):c.239_253del (p.Ser80_Asp84del) rs746311499
NM_133259.4(LRPPRC):c.2406_2407del (p.Glu803fs)
NM_133259.4(LRPPRC):c.2433del (p.Ile812fs)
NM_133259.4(LRPPRC):c.2441_2444del (p.Thr814fs) rs2105077465
NM_133259.4(LRPPRC):c.2444del (p.Leu815fs)
NM_133259.4(LRPPRC):c.2450T>A (p.Leu817Ter) rs1301842578
NM_133259.4(LRPPRC):c.245del (p.Gln82fs)
NM_133259.4(LRPPRC):c.2471T>G (p.Ile824Arg) rs774104921
NM_133259.4(LRPPRC):c.2488_2489del (p.Thr830fs)
NM_133259.4(LRPPRC):c.2505-1G>T rs1553400727
NM_133259.4(LRPPRC):c.2505-2A>T
NM_133259.4(LRPPRC):c.251_254del (p.Asp84fs) rs1553413047
NM_133259.4(LRPPRC):c.2545T>C (p.Tyr849His) rs1672219378
NM_133259.4(LRPPRC):c.2545_2558del (p.Tyr849fs) rs1553400685
NM_133259.4(LRPPRC):c.2557A>G (p.Lys853Glu)
NM_133259.4(LRPPRC):c.2559dup (p.Val854fs)
NM_133259.4(LRPPRC):c.255G>A (p.Trp85Ter) rs2103745422
NM_133259.4(LRPPRC):c.2569_2585del (p.Arg857fs)
NM_133259.4(LRPPRC):c.2595_2597del (p.Val866del) rs863225444
NM_133259.4(LRPPRC):c.2603_2604del (p.Lys868fs)
NM_133259.4(LRPPRC):c.2630-5_2630-2del
NM_133259.4(LRPPRC):c.2632dup (p.Met878fs)
NM_133259.4(LRPPRC):c.2680C>T (p.Leu894Phe) rs886056055
NM_133259.4(LRPPRC):c.2723AGA[1] (p.Lys909del) rs863225445
NM_133259.4(LRPPRC):c.2736+1G>T rs1553400391
NM_133259.4(LRPPRC):c.2737-1G>T rs1553398334
NM_133259.4(LRPPRC):c.2741C>A (p.Pro914Gln) rs1463658772
NM_133259.4(LRPPRC):c.2753C>T (p.Ala918Val)
NM_133259.4(LRPPRC):c.2761G>T (p.Ala921Ser) rs775312269
NM_133259.4(LRPPRC):c.283C>T (p.Arg95Ter) rs760186575
NM_133259.4(LRPPRC):c.2882T>C (p.Leu961Pro)
NM_133259.4(LRPPRC):c.2889del (p.Lys963fs)
NM_133259.4(LRPPRC):c.289A>G (p.Thr97Ala) rs1674344719
NM_133259.4(LRPPRC):c.2941del (p.Ile981fs)
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His) rs774857058
NM_133259.4(LRPPRC):c.2966G>C (p.Arg989Pro) rs774857058
NM_133259.4(LRPPRC):c.2981G>C (p.Arg994Thr) rs912716897
NM_133259.4(LRPPRC):c.2984T>G (p.Leu995Ter) rs1553396232
NM_133259.4(LRPPRC):c.2986_3001del (p.Leu996fs)
NM_133259.4(LRPPRC):c.2T>A (p.Met1Lys) rs1160846305
NM_133259.4(LRPPRC):c.3003_3006del (p.Glu1002fs) rs1300725076
NM_133259.4(LRPPRC):c.3013del (p.Gln1005fs)
NM_133259.4(LRPPRC):c.3031del (p.Val1011fs)
NM_133259.4(LRPPRC):c.3039+21C>A rs7568481
NM_133259.4(LRPPRC):c.3044G>A (p.Trp1015Ter)
NM_133259.4(LRPPRC):c.3045G>A (p.Trp1015Ter) rs1202515342
NM_133259.4(LRPPRC):c.3093A>C (p.Thr1031=) rs768083517
NM_133259.4(LRPPRC):c.3098C>G (p.Pro1033Arg)
NM_133259.4(LRPPRC):c.3106C>T (p.Gln1036Ter)
NM_133259.4(LRPPRC):c.3130C>T (p.Arg1044Ter) rs1558936154
NM_133259.4(LRPPRC):c.3147del (p.Ala1051fs)
NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs) rs769022521
NM_133259.4(LRPPRC):c.3148+1G>T
NM_133259.4(LRPPRC):c.3148+2C>T rs1553396068
NM_133259.4(LRPPRC):c.3149-2A>T
NM_133259.4(LRPPRC):c.3151del
NM_133259.4(LRPPRC):c.3156T>A (p.Tyr1052Ter)
NM_133259.4(LRPPRC):c.319A>G (p.Lys107Glu)
NM_133259.4(LRPPRC):c.31_32insATAAGAGACAG (p.Leu11fs)
NM_133259.4(LRPPRC):c.320_321del (p.Lys107fs)
NM_133259.4(LRPPRC):c.3227T>A (p.Leu1076Ter)
NM_133259.4(LRPPRC):c.3248_3249del (p.Phe1083fs)
NM_133259.4(LRPPRC):c.3254_3255del (p.Gln1085fs)
NM_133259.4(LRPPRC):c.3261_3262del (p.Met1087fs)
NM_133259.4(LRPPRC):c.3275+1G>T
NM_133259.4(LRPPRC):c.3286del (p.His1096fs) rs797044605
NM_133259.4(LRPPRC):c.3310del (p.Asp1104fs)
NM_133259.4(LRPPRC):c.3313dup (p.Ala1105fs)
NM_133259.4(LRPPRC):c.3364+2T>C
NM_133259.4(LRPPRC):c.338G>T (p.Cys113Phe) rs750132738
NM_133259.4(LRPPRC):c.3446T>A (p.Leu1149Ter)
NM_133259.4(LRPPRC):c.3451A>G (p.Met1151Val) rs1670882770
NM_133259.4(LRPPRC):c.346+1G>T
NM_133259.4(LRPPRC):c.346+9A>C rs754438818
NM_133259.4(LRPPRC):c.3465_3466delinsA (p.Glu1156fs)
NM_133259.4(LRPPRC):c.348T>C (p.Gly116=) rs1674229974
NM_133259.4(LRPPRC):c.3529A>C (p.Met1177Leu)
NM_133259.4(LRPPRC):c.3563_3566del (p.Ile1188fs)
NM_133259.4(LRPPRC):c.3566dup (p.Asn1190fs) rs762254417
NM_133259.4(LRPPRC):c.3568A>G (p.Asn1190Asp) rs1670878489
NM_133259.4(LRPPRC):c.356_362del (p.Gly119fs)
NM_133259.4(LRPPRC):c.3645C>G (p.Tyr1215Ter)
NM_133259.4(LRPPRC):c.3659A>C (p.Tyr1220Ser) rs775734947
NM_133259.4(LRPPRC):c.3663dup (p.Phe1222fs)
NM_133259.4(LRPPRC):c.3673_3676del (p.Lys1224_Val1225insTer) rs1553391303
NM_133259.4(LRPPRC):c.3691G>T (p.Glu1231Ter)
NM_133259.4(LRPPRC):c.3697_3701delinsCAAG (p.Ala1233fs)
NM_133259.4(LRPPRC):c.3706A>T (p.Lys1236Ter)
NM_133259.4(LRPPRC):c.3710-1del
NM_133259.4(LRPPRC):c.3737_3740del (p.Asn1246fs)
NM_133259.4(LRPPRC):c.376_377insAAATTATTTTTTGAATACG (p.Leu126delinsGlnIleIlePheTer)
NM_133259.4(LRPPRC):c.3773dup (p.Leu1259fs) rs761052211
NM_133259.4(LRPPRC):c.3774_3775insTCGTATGCCGT (p.Leu1259fs)
NM_133259.4(LRPPRC):c.3778C>T (p.Gln1260Ter)
NM_133259.4(LRPPRC):c.3778_3779del (p.Gln1260fs)
NM_133259.4(LRPPRC):c.3778_3780delinsT (p.Gln1260fs)
NM_133259.4(LRPPRC):c.3787del (p.Asp1263fs)
NM_133259.4(LRPPRC):c.3825+1G>A
NM_133259.4(LRPPRC):c.3826-1G>A
NM_133259.4(LRPPRC):c.3861GTT[2] (p.Leu1289del) rs759297611
NM_133259.4(LRPPRC):c.3900+1G>C rs863225443
NM_133259.4(LRPPRC):c.3928_3938del (p.Leu1310fs)
NM_133259.4(LRPPRC):c.392del (p.Gly131fs)
NM_133259.4(LRPPRC):c.3941T>G (p.Leu1314Ter)
NM_133259.4(LRPPRC):c.3957del (p.Ala1320fs)
NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter) rs863224052
NM_133259.4(LRPPRC):c.3979_3981delinsGG (p.Ser1327fs)
NM_133259.4(LRPPRC):c.3979del (p.Ser1327fs)
NM_133259.4(LRPPRC):c.3985+1811_4077delinsA
NM_133259.4(LRPPRC):c.3985+1G>T
NM_133259.4(LRPPRC):c.3986-11_3986-8dup rs764564351
NM_133259.4(LRPPRC):c.3986-2A>G
NM_133259.4(LRPPRC):c.3G>A (p.Met1Ile) rs1553416989
NM_133259.4(LRPPRC):c.4011dup (p.Lys1338Ter) rs1670422432
NM_133259.4(LRPPRC):c.4023T>G (p.Tyr1341Ter)
NM_133259.4(LRPPRC):c.406_407del (p.Glu136fs)
NM_133259.4(LRPPRC):c.4074T>C (p.Arg1358=) rs746573924
NM_133259.4(LRPPRC):c.4076dup (p.Tyr1359Ter)
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter) rs148828179
NM_133259.4(LRPPRC):c.4078G>T (p.Ala1360Ser) rs147302249
NM_133259.4(LRPPRC):c.40G>A (p.Ala14Thr)
NM_133259.4(LRPPRC):c.4114_4115insAT (p.Phe1372fs)
NM_133259.4(LRPPRC):c.4128+2T>G rs1553388067
NM_133259.4(LRPPRC):c.414del (p.Lys138fs)
NM_133259.4(LRPPRC):c.4156C>G (p.Leu1386Val) rs886056053
NM_133259.4(LRPPRC):c.4178_4182dup (p.Ter1395LeuextTer?) rs1293234237
NM_133259.4(LRPPRC):c.42C>T (p.Ala14=) rs1572599036
NM_133259.4(LRPPRC):c.441T>C (p.His147=) rs886056060
NM_133259.4(LRPPRC):c.451del (p.Asp151fs)
NM_133259.4(LRPPRC):c.456_457del (p.Leu153fs)
NM_133259.4(LRPPRC):c.469+1G>A rs1060499785
NM_133259.4(LRPPRC):c.495T>G (p.Tyr165Ter)
NM_133259.4(LRPPRC):c.503T>A (p.Leu168Ter)
NM_133259.4(LRPPRC):c.508A>T (p.Lys170Ter)
NM_133259.4(LRPPRC):c.509_510insGATGTGTATAAGAGAC (p.Val171fs)
NM_133259.4(LRPPRC):c.516T>A (p.Tyr172Ter)
NM_133259.4(LRPPRC):c.531T>A (p.Tyr177Ter)
NM_133259.4(LRPPRC):c.532A>T (p.Lys178Ter)
NM_133259.4(LRPPRC):c.54_57delinsTCG (p.Leu20fs)
NM_133259.4(LRPPRC):c.567G>C (p.Glu189Asp)
NM_133259.4(LRPPRC):c.580del (p.Gln194fs)
NM_133259.4(LRPPRC):c.582A>G (p.Gln194=) rs148494289
NM_133259.4(LRPPRC):c.589C>T (p.Arg197Ter) rs989113962
NM_133259.4(LRPPRC):c.592_603del
NM_133259.4(LRPPRC):c.5C>T (p.Ala2Val) rs1380043598
NM_133259.4(LRPPRC):c.600C>A (p.Tyr200Ter) rs1553411751
NM_133259.4(LRPPRC):c.601C>T (p.Gln201Ter) rs1553411748
NM_133259.4(LRPPRC):c.62_79dup (p.Pro21_Leu26dup) rs760874906
NM_133259.4(LRPPRC):c.650+1G>A
NM_133259.4(LRPPRC):c.650+1del
NM_133259.4(LRPPRC):c.676A>G (p.Lys226Glu) rs1674047513
NM_133259.4(LRPPRC):c.683_684del (p.Leu228fs)
NM_133259.4(LRPPRC):c.695A>C (p.Glu232Ala) rs765911841
NM_133259.4(LRPPRC):c.703delinsAA (p.Phe235fs)
NM_133259.4(LRPPRC):c.738-1G>A
NM_133259.4(LRPPRC):c.738-2A>C
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) rs200686732
NM_133259.4(LRPPRC):c.7G>T (p.Ala3Ser) rs200686732
NM_133259.4(LRPPRC):c.803A>G (p.Asp268Gly) rs143290138
NM_133259.4(LRPPRC):c.808T>C (p.Tyr270His) rs946957597
NM_133259.4(LRPPRC):c.811del (p.Leu271fs)
NM_133259.4(LRPPRC):c.844G>A (p.Asp282Asn) rs1559043209
NM_133259.4(LRPPRC):c.864+11T>G rs193090896
NM_133259.4(LRPPRC):c.880_882del (p.Glu294del) rs774622259
NM_133259.4(LRPPRC):c.883A>T (p.Lys295Ter)
NM_133259.4(LRPPRC):c.898_899delinsAGATGTGTATAAGAGACAG (p.Leu300delinsArgCysValTer)
NM_133259.4(LRPPRC):c.92del (p.Pro31fs)
NM_133259.4(LRPPRC):c.93_94delinsAGCA (p.Gly32fs)
NM_133259.4(LRPPRC):c.965C>T (p.Ser322Leu) rs1673969300

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