ClinVar Miner

List of variants in gene LRPPRC studied for Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

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ClinVar version:
Total variants: 269
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HGVS dbSNP
LRPPRC, 8-BP DEL, EXON 35
NM_133259.3(LRPPRC):c.592_603delGTGACATACCAG (p.Val198_Gln201del)
NM_133259.4(LRPPRC):c.*1088G>C rs79225555
NM_133259.4(LRPPRC):c.*110G>A
NM_133259.4(LRPPRC):c.*1121G>T rs371325663
NM_133259.4(LRPPRC):c.*1152C>G rs562361644
NM_133259.4(LRPPRC):c.*1335T>C rs76970610
NM_133259.4(LRPPRC):c.*1343G>C rs75002669
NM_133259.4(LRPPRC):c.*1355C>T
NM_133259.4(LRPPRC):c.*1370G>A
NM_133259.4(LRPPRC):c.*1371C>T rs111381413
NM_133259.4(LRPPRC):c.*1372G>A
NM_133259.4(LRPPRC):c.*1435C>T
NM_133259.4(LRPPRC):c.*1458A>G
NM_133259.4(LRPPRC):c.*1498G>A rs142253135
NM_133259.4(LRPPRC):c.*1563C>T rs186518252
NM_133259.4(LRPPRC):c.*1564G>A rs142436911
NM_133259.4(LRPPRC):c.*1584G>A rs372330583
NM_133259.4(LRPPRC):c.*1587C>T rs886056046
NM_133259.4(LRPPRC):c.*1652C>G
NM_133259.4(LRPPRC):c.*1653G>A rs886056045
NM_133259.4(LRPPRC):c.*1653G>T rs886056045
NM_133259.4(LRPPRC):c.*1665C>G rs1139250
NM_133259.4(LRPPRC):c.*1665C>T rs1139250
NM_133259.4(LRPPRC):c.*1684C>A
NM_133259.4(LRPPRC):c.*1685G>A
NM_133259.4(LRPPRC):c.*1689G>T
NM_133259.4(LRPPRC):c.*1717C>T
NM_133259.4(LRPPRC):c.*1719G>A
NM_133259.4(LRPPRC):c.*1752C>G
NM_133259.4(LRPPRC):c.*1806A>C rs886056044
NM_133259.4(LRPPRC):c.*1816T>C rs886056043
NM_133259.4(LRPPRC):c.*1872C>T rs147686285
NM_133259.4(LRPPRC):c.*1894C>T
NM_133259.4(LRPPRC):c.*1895G>A
NM_133259.4(LRPPRC):c.*1895G>T rs886056042
NM_133259.4(LRPPRC):c.*1911G>A rs533572540
NM_133259.4(LRPPRC):c.*1961T>C rs541683193
NM_133259.4(LRPPRC):c.*1981A>T rs180886841
NM_133259.4(LRPPRC):c.*2041C>A rs7581308
NM_133259.4(LRPPRC):c.*2041C>T rs7581308
NM_133259.4(LRPPRC):c.*2042G>T
NM_133259.4(LRPPRC):c.*2099C>A rs771863074
NM_133259.4(LRPPRC):c.*2157T>A
NM_133259.4(LRPPRC):c.*2176A>T rs73924082
NM_133259.4(LRPPRC):c.*218A>G
NM_133259.4(LRPPRC):c.*2192A>G
NM_133259.4(LRPPRC):c.*2224A>C
NM_133259.4(LRPPRC):c.*2230A>C
NM_133259.4(LRPPRC):c.*2245A>G rs758080975
NM_133259.4(LRPPRC):c.*2277A>G rs886056041
NM_133259.4(LRPPRC):c.*2289A>T
NM_133259.4(LRPPRC):c.*2376C>G rs886056040
NM_133259.4(LRPPRC):c.*343C>T rs144519599
NM_133259.4(LRPPRC):c.*399G>A rs149268737
NM_133259.4(LRPPRC):c.*409C>G rs187382374
NM_133259.4(LRPPRC):c.*420C>T
NM_133259.4(LRPPRC):c.*456G>C rs886056052
NM_133259.4(LRPPRC):c.*485C>T rs886056051
NM_133259.4(LRPPRC):c.*518A>T
NM_133259.4(LRPPRC):c.*534G>T rs553327890
NM_133259.4(LRPPRC):c.*556A>T rs1136998
NM_133259.4(LRPPRC):c.*577G>T rs183378286
NM_133259.4(LRPPRC):c.*587C>T
NM_133259.4(LRPPRC):c.*590C>T rs886056050
NM_133259.4(LRPPRC):c.*647G>C rs886056049
NM_133259.4(LRPPRC):c.*667C>T rs533028399
NM_133259.4(LRPPRC):c.*734A>G
NM_133259.4(LRPPRC):c.*735C>G
NM_133259.4(LRPPRC):c.*825A>G rs17031753
NM_133259.4(LRPPRC):c.*996A>G
NM_133259.4(LRPPRC):c.-11A>G rs188424940
NM_133259.4(LRPPRC):c.-19C>G rs574328970
NM_133259.4(LRPPRC):c.1009+15A>T
NM_133259.4(LRPPRC):c.1038C>T (p.Val346=)
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val) rs119466000
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042
NM_133259.4(LRPPRC):c.1091C>G (p.Ser364Ter) rs1553410995
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=) rs886056063
NM_133259.4(LRPPRC):c.116A>G (p.Tyr39Cys)
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.1195del (p.Glu399fs) rs1553410876
NM_133259.4(LRPPRC):c.1201C>T (p.Gln401Ter) rs1553410866
NM_133259.4(LRPPRC):c.1219C>G (p.Leu407Val) rs368164663
NM_133259.4(LRPPRC):c.1236T>C (p.His412=) rs764634151
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr) rs373908553
NM_133259.4(LRPPRC):c.1261+2T>C rs1553410852
NM_133259.4(LRPPRC):c.1262-12T>C rs149449510
NM_133259.4(LRPPRC):c.1295A>G (p.Glu432Gly) rs144732922
NM_133259.4(LRPPRC):c.1299A>G (p.Glu433=)
NM_133259.4(LRPPRC):c.1300G>A (p.Gly434Ser) rs760756132
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp) rs146515622
NM_133259.4(LRPPRC):c.1305T>C (p.Phe435=) rs886056059
NM_133259.4(LRPPRC):c.130C>G (p.Arg44Gly) rs886056062
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.1369+5G>A rs199628926
NM_133259.4(LRPPRC):c.1385del (p.Leu462fs) rs1553408603
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=) rs886056057
NM_133259.4(LRPPRC):c.141C>G (p.Pro47=) rs559176918
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala) rs115507225
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668
NM_133259.4(LRPPRC):c.1488+8C>G rs772715775
NM_133259.4(LRPPRC):c.1491A>T (p.Glu497Asp) rs571886021
NM_133259.4(LRPPRC):c.1529C>G (p.Ala510Gly) rs115693730
NM_133259.4(LRPPRC):c.1547C>T (p.Ala516Val)
NM_133259.4(LRPPRC):c.1558A>G (p.Asn520Asp)
NM_133259.4(LRPPRC):c.1577C>A (p.Ser526Ter) rs896524026
NM_133259.4(LRPPRC):c.1578A>G (p.Ser526=)
NM_133259.4(LRPPRC):c.1582+7A>G rs863225446
NM_133259.4(LRPPRC):c.1583-14A>G rs372371276
NM_133259.4(LRPPRC):c.1589C>A (p.Ser530Ter) rs775735922
NM_133259.4(LRPPRC):c.1612C>T (p.Gln538Ter) rs1553406772
NM_133259.4(LRPPRC):c.1623A>T (p.Arg541Ser)
NM_133259.4(LRPPRC):c.1630C>T (p.Leu544=) rs1352013098
NM_133259.4(LRPPRC):c.1649+11C>T rs200115839
NM_133259.4(LRPPRC):c.1649+8G>A rs370119141
NM_133259.4(LRPPRC):c.1674C>T (p.Ser558=) rs376787135
NM_133259.4(LRPPRC):c.1677+11C>G rs58811869
NM_133259.4(LRPPRC):c.1678-2dup rs1553404545
NM_133259.4(LRPPRC):c.1678-7T>C rs201370020
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu) rs144826521
NM_133259.4(LRPPRC):c.1695C>G (p.Tyr565Ter)
NM_133259.4(LRPPRC):c.1706G>A (p.Arg569His)
NM_133259.4(LRPPRC):c.1722_1723del (p.Gly576fs) rs750343121
NM_133259.4(LRPPRC):c.1723C>T (p.Arg575Ter) rs774934005
NM_133259.4(LRPPRC):c.1735+5C>G
NM_133259.4(LRPPRC):c.1762T>G (p.Leu588Val) rs775978547
NM_133259.4(LRPPRC):c.1765A>T (p.Ile589Phe)
NM_133259.4(LRPPRC):c.179C>T (p.Ala60Val) rs546399905
NM_133259.4(LRPPRC):c.1841T>C (p.Met614Thr) rs374400665
NM_133259.4(LRPPRC):c.1842+10C>T rs373649496
NM_133259.4(LRPPRC):c.1842+2T>A rs1553404194
NM_133259.4(LRPPRC):c.1863T>G (p.Asn621Lys) rs762224854
NM_133259.4(LRPPRC):c.1865_1868del (p.Ile622fs) rs752914914
NM_133259.4(LRPPRC):c.1880G>A (p.Arg627His) rs373011028
NM_133259.4(LRPPRC):c.1887_1889del (p.Leu630del) rs1391434905
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) rs35881858
NM_133259.4(LRPPRC):c.1920+11A>G
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) rs148575027
NM_133259.4(LRPPRC):c.1929C>T (p.His643=) rs200017171
NM_133259.4(LRPPRC):c.1935_1937del (p.Leu645_Val646delinsPhe) rs1553403993
NM_133259.4(LRPPRC):c.1970_1971del (p.Val657fs) rs1553403879
NM_133259.4(LRPPRC):c.1998C>T (p.Ser666=)
NM_133259.4(LRPPRC):c.2020G>A (p.Glu674Lys) rs149243712
NM_133259.4(LRPPRC):c.2072C>T (p.Ser691Leu) rs372341254
NM_133259.4(LRPPRC):c.2080-1G>C rs1553403596
NM_133259.4(LRPPRC):c.2118A>G (p.Glu706=) rs118188415
NM_133259.4(LRPPRC):c.217A>G (p.Thr73Ala)
NM_133259.4(LRPPRC):c.2216G>A (p.Arg739His) rs187274438
NM_133259.4(LRPPRC):c.2228C>T (p.Ser743Phe) rs779873239
NM_133259.4(LRPPRC):c.2296+1G>A rs1553403303
NM_133259.4(LRPPRC):c.2325A>G (p.Lys775=) rs139634347
NM_133259.4(LRPPRC):c.2326G>T (p.Glu776Ter) rs758615834
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=) rs886056056
NM_133259.4(LRPPRC):c.239_253del (p.Ser80_Asp84del) rs746311499
NM_133259.4(LRPPRC):c.2450T>A (p.Leu817Ter) rs1301842578
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066
NM_133259.4(LRPPRC):c.2471T>G (p.Ile824Arg)
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=) rs115993634
NM_133259.4(LRPPRC):c.2505-1G>T rs1553400727
NM_133259.4(LRPPRC):c.251_254del (p.Asp84fs) rs1553413047
NM_133259.4(LRPPRC):c.2545T>C (p.Tyr849His)
NM_133259.4(LRPPRC):c.2545_2558del (p.Tyr849fs) rs1553400685
NM_133259.4(LRPPRC):c.254G>A (p.Trp85Ter) rs1453934366
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798
NM_133259.4(LRPPRC):c.2569A>G (p.Arg857Gly) rs200138144
NM_133259.4(LRPPRC):c.2595_2597del (p.Val866del) rs863225444
NM_133259.4(LRPPRC):c.2610G>C (p.Glu870Asp) rs139192988
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.2755C>T (p.Arg919Ter) rs1166980943
NM_133259.4(LRPPRC):c.276T>C (p.Leu92=) rs187590711
NM_133259.4(LRPPRC):c.289A>G (p.Thr97Ala)
NM_133259.4(LRPPRC):c.2904C>T (p.Asn968=) rs1052539943
NM_133259.4(LRPPRC):c.295C>T (p.Arg99Cys)
NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys) rs199706677
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His) 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.2T>A (p.Met1Lys) rs1160846305
NM_133259.4(LRPPRC):c.3003_3006del (p.Glu1002fs) rs1300725076
NM_133259.4(LRPPRC):c.3030C>T (p.Asp1010=) rs147000685
NM_133259.4(LRPPRC):c.3045G>A (p.Trp1015Ter) rs1202515342
NM_133259.4(LRPPRC):c.3093A>C (p.Thr1031=)
NM_133259.4(LRPPRC):c.3130C>T (p.Arg1044Ter) rs1558936154
NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs) rs769022521
NM_133259.4(LRPPRC):c.3148+12C>T rs199684766
NM_133259.4(LRPPRC):c.3148+2C>T rs1553396068
NM_133259.4(LRPPRC):c.3275+7G>A rs111392631
NM_133259.4(LRPPRC):c.3286del (p.His1096fs) rs797044605
NM_133259.4(LRPPRC):c.3364+6T>A rs543620356
NM_133259.4(LRPPRC):c.338G>T (p.Cys113Phe)
NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys) rs760016065
NM_133259.4(LRPPRC):c.3451A>G (p.Met1151Val)
NM_133259.4(LRPPRC):c.346+9A>C rs754438818
NM_133259.4(LRPPRC):c.3473T>C (p.Ile1158Thr)
NM_133259.4(LRPPRC):c.348T>C (p.Gly116=)
NM_133259.4(LRPPRC):c.3568A>G (p.Asn1190Asp)
NM_133259.4(LRPPRC):c.3570-3C>T rs35113761
NM_133259.4(LRPPRC):c.3578T>C (p.Ile1193Thr) rs370537508
NM_133259.4(LRPPRC):c.3586G>A (p.Ala1196Thr) rs142097048
NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp) rs113974315
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg) rs140482502
NM_133259.4(LRPPRC):c.3648C>T (p.Phe1216=)
NM_133259.4(LRPPRC):c.3659A>C (p.Tyr1220Ser)
NM_133259.4(LRPPRC):c.3666C>T (p.Phe1222=) rs145105621
NM_133259.4(LRPPRC):c.3673G>C (p.Val1225Leu)
NM_133259.4(LRPPRC):c.3673_3676del (p.Lys1224_Val1225insTer) rs1553391303
NM_133259.4(LRPPRC):c.3737A>G (p.Asn1246Ser) rs886056054
NM_133259.4(LRPPRC):c.3855G>C (p.Pro1285=) rs571550652
NM_133259.4(LRPPRC):c.3861GTT[2] (p.Leu1289del) rs759297611
NM_133259.4(LRPPRC):c.3900+14C>T rs3795859
NM_133259.4(LRPPRC):c.3900+15C>T rs76850904
NM_133259.4(LRPPRC):c.3900+1G>C rs863225443
NM_133259.4(LRPPRC):c.3901-6T>G rs553466522
NM_133259.4(LRPPRC):c.3935C>G (p.Pro1312Arg)
NM_133259.4(LRPPRC):c.3986-11_3986-8dup rs764564351
NM_133259.4(LRPPRC):c.3999T>C (p.Asp1333=) rs202177904
NM_133259.4(LRPPRC):c.3G>A (p.Met1Ile) rs1553416989
NM_133259.4(LRPPRC):c.4056T>A (p.Asp1352Glu) rs146630100
NM_133259.4(LRPPRC):c.4074T>C (p.Arg1358=) rs746573924
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter) rs148828179
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) rs147302249
NM_133259.4(LRPPRC):c.4078G>T (p.Ala1360Ser)
NM_133259.4(LRPPRC):c.4128+1G>A rs1475772376
NM_133259.4(LRPPRC):c.4128+2T>G rs1553388067
NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs) rs759052246
NM_133259.4(LRPPRC):c.4128dup (p.Glu1377Ter) rs1163476569
NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly) rs149693840
NM_133259.4(LRPPRC):c.4156C>G (p.Leu1386Val) rs886056053
NM_133259.4(LRPPRC):c.4177T>G (p.Ser1393Ala) rs139493671
NM_133259.4(LRPPRC):c.4178_4182dup (p.Ter1395LeuextTer?) rs1293234237
NM_133259.4(LRPPRC):c.41C>G (p.Ala14Gly) rs114205971
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.442A>C (p.Arg148=) rs138378033
NM_133259.4(LRPPRC):c.469+1G>A rs1060499785
NM_133259.4(LRPPRC):c.525T>C (p.Asn175=) rs570349090
NM_133259.4(LRPPRC):c.582A>G (p.Gln194=) rs148494289
NM_133259.4(LRPPRC):c.587A>C (p.Asn196Thr) rs199727887
NM_133259.4(LRPPRC):c.589C>T (p.Arg197Ter) rs989113962
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274
NM_133259.4(LRPPRC):c.5C>T (p.Ala2Val)
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.64C>G (p.Leu22Val) rs181626399
NM_133259.4(LRPPRC):c.650+1G>C rs1249427615
NM_133259.4(LRPPRC):c.676A>G (p.Lys226Glu)
NM_133259.4(LRPPRC):c.695A>C (p.Glu232Ala)
NM_133259.4(LRPPRC):c.70C>G (p.Leu24Val) rs749629864
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His) rs780400922
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe) rs116727742
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) rs200686732
NM_133259.4(LRPPRC):c.803A>C (p.Asp268Ala)
NM_133259.4(LRPPRC):c.803A>G (p.Asp268Gly)
NM_133259.4(LRPPRC):c.808T>C (p.Tyr270His)
NM_133259.4(LRPPRC):c.843C>T (p.Gly281=) rs766703715
NM_133259.4(LRPPRC):c.844G>A (p.Asp282Asn)
NM_133259.4(LRPPRC):c.864+11T>G rs193090896
NM_133259.4(LRPPRC):c.880_882del (p.Glu294del) rs774622259
NM_133259.4(LRPPRC):c.8C>T (p.Ala3Val) rs886056065
NM_133259.4(LRPPRC):c.908G>A (p.Arg303His) rs745653250
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=) rs886056064

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