ClinVar Miner

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

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP
NM_133259.3(LRPPRC):c.*1121G>T rs371325663
NM_133259.3(LRPPRC):c.*1152C>G rs562361644
NM_133259.3(LRPPRC):c.*1343G>C rs75002669
NM_133259.3(LRPPRC):c.*1371C>T rs111381413
NM_133259.3(LRPPRC):c.*1387_*1390dupACTG rs886056048
NM_133259.3(LRPPRC):c.*1435delC rs886056047
NM_133259.3(LRPPRC):c.*1445_*1456dupTTTTTTTTTTTT rs57494476
NM_133259.3(LRPPRC):c.*1449_*1456dupTTTTTTTT rs57494476
NM_133259.3(LRPPRC):c.*1498G>A rs142253135
NM_133259.3(LRPPRC):c.*1563C>T rs186518252
NM_133259.3(LRPPRC):c.*1564G>A rs142436911
NM_133259.3(LRPPRC):c.*1584G>A rs372330583
NM_133259.3(LRPPRC):c.*1587C>T rs886056046
NM_133259.3(LRPPRC):c.*1653G>A rs886056045
NM_133259.3(LRPPRC):c.*1653G>T rs886056045
NM_133259.3(LRPPRC):c.*1665C>G rs1139250
NM_133259.3(LRPPRC):c.*1806A>C rs886056044
NM_133259.3(LRPPRC):c.*1816T>C rs886056043
NM_133259.3(LRPPRC):c.*1872C>T rs147686285
NM_133259.3(LRPPRC):c.*1895G>T rs886056042
NM_133259.3(LRPPRC):c.*1911G>A rs533572540
NM_133259.3(LRPPRC):c.*1961T>C rs541683193
NM_133259.3(LRPPRC):c.*1981A>T rs180886841
NM_133259.3(LRPPRC):c.*2041C>A rs7581308
NM_133259.3(LRPPRC):c.*2041C>T rs7581308
NM_133259.3(LRPPRC):c.*2048dupG rs546907287
NM_133259.3(LRPPRC):c.*2099C>A rs771863074
NM_133259.3(LRPPRC):c.*2245A>G rs758080975
NM_133259.3(LRPPRC):c.*2277A>G rs886056041
NM_133259.3(LRPPRC):c.*2376C>G rs886056040
NM_133259.3(LRPPRC):c.*343C>T rs144519599
NM_133259.3(LRPPRC):c.*399G>A rs149268737
NM_133259.3(LRPPRC):c.*409C>G rs187382374
NM_133259.3(LRPPRC):c.*456G>C rs886056052
NM_133259.3(LRPPRC):c.*485C>T rs886056051
NM_133259.3(LRPPRC):c.*534G>T rs553327890
NM_133259.3(LRPPRC):c.*577G>T rs183378286
NM_133259.3(LRPPRC):c.*590C>T rs886056050
NM_133259.3(LRPPRC):c.*647G>C rs886056049
NM_133259.3(LRPPRC):c.*667C>T rs533028399
NM_133259.3(LRPPRC):c.-11A>G rs188424940
NM_133259.3(LRPPRC):c.-19C>G rs574328970
NM_133259.3(LRPPRC):c.114C>T (p.Ser38=) rs886056063
NM_133259.3(LRPPRC):c.1156-8dupT rs747766605
NM_133259.3(LRPPRC):c.1262-12T>C rs149449510
NM_133259.3(LRPPRC):c.1300G>A (p.Gly434Ser) rs760756132
NM_133259.3(LRPPRC):c.1305T>C (p.Phe435=) rs886056059
NM_133259.3(LRPPRC):c.130C>G (p.Arg44Gly) rs886056062
NM_133259.3(LRPPRC):c.1343G>T (p.Gly448Val) rs886056058
NM_133259.3(LRPPRC):c.135C>T (p.Ala45=) rs886056061
NM_133259.3(LRPPRC):c.1369+5G>A rs199628926
NM_133259.3(LRPPRC):c.1419T>C (p.Asp473=) rs886056057
NM_133259.3(LRPPRC):c.1583-14A>G rs372371276
NM_133259.3(LRPPRC):c.1674C>T (p.Ser558=) rs376787135
NM_133259.3(LRPPRC):c.1677+7C>T rs374995996
NM_133259.3(LRPPRC):c.1762T>G (p.Leu588Val) rs775978547
NM_133259.3(LRPPRC):c.179C>T (p.Ala60Val) rs546399905
NM_133259.3(LRPPRC):c.1863T>G (p.Asn621Lys) rs762224854
NM_133259.3(LRPPRC):c.1928A>G (p.His643Arg) rs148575027
NM_133259.3(LRPPRC):c.2118A>G (p.Glu706=) rs118188415
NM_133259.3(LRPPRC):c.2216G>A (p.Arg739His) rs187274438
NM_133259.3(LRPPRC):c.2228C>T (p.Ser743Phe) rs779873239
NM_133259.3(LRPPRC):c.2385C>T (p.Gly795=) rs886056056
NM_133259.3(LRPPRC):c.2680C>T (p.Leu894Phe) rs886056055
NM_133259.3(LRPPRC):c.2965C>T (p.Arg989Cys) rs199706677
NM_133259.3(LRPPRC):c.2966G>A (p.Arg989His) rs774857058
NM_133259.3(LRPPRC):c.3364+6T>A rs543620356
NM_133259.3(LRPPRC):c.3430C>T (p.Arg1144Cys) rs760016065
NM_133259.3(LRPPRC):c.3586G>A (p.Ala1196Thr) rs142097048
NM_133259.3(LRPPRC):c.3641A>G (p.Gln1214Arg) rs140482502
NM_133259.3(LRPPRC):c.3737A>G (p.Asn1246Ser) rs886056054
NM_133259.3(LRPPRC):c.3901-6T>G rs553466522
NM_133259.3(LRPPRC):c.4156C>G (p.Leu1386Val) rs886056053
NM_133259.3(LRPPRC):c.4177T>G (p.Ser1393Ala) rs139493671
NM_133259.3(LRPPRC):c.441T>C (p.His147=) rs886056060
NM_133259.3(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274
NM_133259.3(LRPPRC):c.64C>G (p.Leu22Val) rs181626399
NM_133259.3(LRPPRC):c.70C>G (p.Leu24Val) rs749629864
NM_133259.3(LRPPRC):c.74G>A (p.Arg25His) rs780400922
NM_133259.3(LRPPRC):c.79C>T (p.Leu27Phe) rs116727742
NM_133259.3(LRPPRC):c.843C>T (p.Gly281=) rs766703715
NM_133259.3(LRPPRC):c.8C>T (p.Ala3Val) rs886056065
NM_133259.3(LRPPRC):c.96C>T (p.Gly32=) rs886056064

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