ClinVar Miner

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

Included ClinVar conditions (12):
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Gene type:
ClinVar version:
Total variants: 158
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HGVS dbSNP
NM_133259.3(LRPPRC):c.592_603delGTGACATACCAG (p.Val198_Gln201del)
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.*1355C>T
NM_133259.4(LRPPRC):c.*1370G>A
NM_133259.4(LRPPRC):c.*1372G>A
NM_133259.4(LRPPRC):c.*1387_*1390dup rs886056048
NM_133259.4(LRPPRC):c.*1435C>T
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.*1458A>G
NM_133259.4(LRPPRC):c.*1498G>A rs142253135
NM_133259.4(LRPPRC):c.*1563C>T rs186518252
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.*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.*1981A>T rs180886841
NM_133259.4(LRPPRC):c.*2041C>A rs7581308
NM_133259.4(LRPPRC):c.*2042G>T
NM_133259.4(LRPPRC):c.*2048dup rs546907287
NM_133259.4(LRPPRC):c.*2099C>A rs771863074
NM_133259.4(LRPPRC):c.*2157T>A
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.*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.*735C>G
NM_133259.4(LRPPRC):c.*996A>G
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.114C>T (p.Ser38=) rs886056063
NM_133259.4(LRPPRC):c.1156-13dup rs747766605
NM_133259.4(LRPPRC):c.1219C>G (p.Leu407Val) rs368164663
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr) rs373908553
NM_133259.4(LRPPRC):c.1262-12T>C rs149449510
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.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.1558A>G (p.Asn520Asp)
NM_133259.4(LRPPRC):c.1582+7A>G rs863225446
NM_133259.4(LRPPRC):c.1583-14A>G rs372371276
NM_133259.4(LRPPRC):c.1623A>T (p.Arg541Ser)
NM_133259.4(LRPPRC):c.1674C>T (p.Ser558=) rs376787135
NM_133259.4(LRPPRC):c.1677+7C>T rs374995996
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.1735+5C>G
NM_133259.4(LRPPRC):c.1762T>G (p.Leu588Val) rs775978547
NM_133259.4(LRPPRC):c.179C>T (p.Ala60Val) rs546399905
NM_133259.4(LRPPRC):c.1842+10C>T rs373649496
NM_133259.4(LRPPRC):c.1863T>G (p.Asn621Lys) rs762224854
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.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.2020G>A (p.Glu674Lys) rs149243712
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.2385C>T (p.Gly795=) rs886056056
NM_133259.4(LRPPRC):c.239_253del (p.Ser80_Asp84del) rs746311499
NM_133259.4(LRPPRC):c.2471T>G (p.Ile824Arg)
NM_133259.4(LRPPRC):c.2545T>C (p.Tyr849His)
NM_133259.4(LRPPRC):c.2569A>G (p.Arg857Gly) rs200138144
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.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.3030C>T (p.Asp1010=) rs147000685
NM_133259.4(LRPPRC):c.3093A>C (p.Thr1031=)
NM_133259.4(LRPPRC):c.3148+12C>T rs199684766
NM_133259.4(LRPPRC):c.3148+2C>T rs1553396068
NM_133259.4(LRPPRC):c.3364+6T>A rs543620356
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.3578T>C (p.Ile1193Thr) rs370537508
NM_133259.4(LRPPRC):c.3586G>A (p.Ala1196Thr) rs142097048
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.3737A>G (p.Asn1246Ser) rs886056054
NM_133259.4(LRPPRC):c.3861_3863GTT[2] (p.Leu1289del) rs759297611
NM_133259.4(LRPPRC):c.3901-6T>G rs553466522
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.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.441T>C (p.His147=) rs886056060
NM_133259.4(LRPPRC):c.525T>C (p.Asn175=) rs570349090
NM_133259.4(LRPPRC):c.587A>C (p.Asn196Thr) rs199727887
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274
NM_133259.4(LRPPRC):c.5C>T (p.Ala2Val)
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.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.843C>T (p.Gly281=) rs766703715
NM_133259.4(LRPPRC):c.844G>A (p.Asp282Asn)
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.96C>T (p.Gly32=) rs886056064

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