ClinVar Miner

List of variants in gene LRPPRC reported as uncertain significance for Leigh syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 217
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HGVS dbSNP gnomAD frequency
NM_133259.4(LRPPRC):c.*1458A>G rs371572374 0.07783
NM_133259.4(LRPPRC):c.*1435C>T rs78163628 0.01439
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe) rs116727742 0.00819
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274 0.00631
NM_133259.4(LRPPRC):c.*399G>A rs149268737 0.00473
NM_133259.4(LRPPRC):c.*343C>T rs144519599 0.00392
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.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.1426A>G (p.Thr476Ala) rs115507225 0.00066
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu) rs144826521 0.00058
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His) rs780400922 0.00051
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.2965C>T (p.Arg989Cys) rs199706677 0.00013
NM_133259.4(LRPPRC):c.1253A>G (p.Asn418Ser) rs373908553 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.*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.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.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.-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.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.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.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.1236T>C (p.His412=) rs764634151 0.00001
NM_133259.4(LRPPRC):c.1305T>C (p.Phe435=) rs886056059 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.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.2385C>T (p.Gly795=) rs886056056 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.4128dup (p.Glu1377Ter) rs1163476569 0.00001
NM_133259.4(LRPPRC):c.8C>T (p.Ala3Val) rs886056065 0.00001
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.*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.1087G>A (p.Val363Ile)
NM_133259.4(LRPPRC):c.1156-13dup rs747766605
NM_133259.4(LRPPRC):c.1216C>T (p.Pro406Ser)
NM_133259.4(LRPPRC):c.121C>T (p.Pro41Ser) rs908473003
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr) rs373908553
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.1390G>C (p.Gly464Arg) rs957783084
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=) rs886056057
NM_133259.4(LRPPRC):c.1456G>A (p.Asp486Asn)
NM_133259.4(LRPPRC):c.1550C>G (p.Ala517Gly)
NM_133259.4(LRPPRC):c.1674C>T (p.Ser558=) rs376787135
NM_133259.4(LRPPRC):c.1678-2dup rs1553404545
NM_133259.4(LRPPRC):c.1706G>A (p.Arg569His) rs762974687
NM_133259.4(LRPPRC):c.1735+5C>G rs373476696
NM_133259.4(LRPPRC):c.1762T>G (p.Leu588Val) rs775978547
NM_133259.4(LRPPRC):c.1887_1889del (p.Leu630del) rs1391434905
NM_133259.4(LRPPRC):c.1935_1937del (p.Leu645_Val646delinsPhe) rs1553403993
NM_133259.4(LRPPRC):c.2039A>T (p.Asp680Val) rs863224056
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.2263G>A (p.Val755Ile)
NM_133259.4(LRPPRC):c.239_253del (p.Ser80_Asp84del) rs746311499
NM_133259.4(LRPPRC):c.2471T>G (p.Ile824Arg) rs774104921
NM_133259.4(LRPPRC):c.2545T>C (p.Tyr849His) rs1672219378
NM_133259.4(LRPPRC):c.2557A>G (p.Lys853Glu)
NM_133259.4(LRPPRC):c.2680C>T (p.Leu894Phe) rs886056055
NM_133259.4(LRPPRC):c.2741C>A (p.Pro914Gln) rs1463658772
NM_133259.4(LRPPRC):c.2753C>T (p.Ala918Val)
NM_133259.4(LRPPRC):c.289A>G (p.Thr97Ala) rs1674344719
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.3093A>C (p.Thr1031=) rs768083517
NM_133259.4(LRPPRC):c.3098C>G (p.Pro1033Arg)
NM_133259.4(LRPPRC):c.3148+2C>T rs1553396068
NM_133259.4(LRPPRC):c.319A>G (p.Lys107Glu)
NM_133259.4(LRPPRC):c.338G>T (p.Cys113Phe) rs750132738
NM_133259.4(LRPPRC):c.3451A>G (p.Met1151Val) rs1670882770
NM_133259.4(LRPPRC):c.346+9A>C rs754438818
NM_133259.4(LRPPRC):c.348T>C (p.Gly116=) rs1674229974
NM_133259.4(LRPPRC):c.3529A>C (p.Met1177Leu)
NM_133259.4(LRPPRC):c.3568A>G (p.Asn1190Asp) rs1670878489
NM_133259.4(LRPPRC):c.3659A>C (p.Tyr1220Ser) rs775734947
NM_133259.4(LRPPRC):c.3861GTT[2] (p.Leu1289del) rs759297611
NM_133259.4(LRPPRC):c.3986-11_3986-8dup rs764564351
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.4156C>G (p.Leu1386Val) rs886056053
NM_133259.4(LRPPRC):c.4178_4182dup (p.Ter1395LeuextTer?) rs1293234237
NM_133259.4(LRPPRC):c.441T>C (p.His147=) rs886056060
NM_133259.4(LRPPRC):c.567G>C (p.Glu189Asp)
NM_133259.4(LRPPRC):c.592_603del
NM_133259.4(LRPPRC):c.5C>T (p.Ala2Val) rs1380043598
NM_133259.4(LRPPRC):c.62_79dup (p.Pro21_Leu26dup) rs760874906
NM_133259.4(LRPPRC):c.676A>G (p.Lys226Glu) rs1674047513
NM_133259.4(LRPPRC):c.695A>C (p.Glu232Ala) rs765911841
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.844G>A (p.Asp282Asn) rs1559043209
NM_133259.4(LRPPRC):c.880_882del (p.Glu294del) rs774622259
NM_133259.4(LRPPRC):c.965C>T (p.Ser322Leu) rs1673969300

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