ClinVar Miner

List of variants reported as likely pathogenic for Leigh syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 242
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val) rs121913660 0.00006
NM_024120.5(NDUFAF5):c.519+4A>G rs373951216 0.00006
NM_007103.4(NDUFV1):c.1162+4A>C rs199683937 0.00005
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val) rs587776498 0.00004
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) rs755312472 0.00003
NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys) rs187584458 0.00003
NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=) rs201992354 0.00002
NM_024120.5(NDUFAF5):c.562A>G (p.Met188Val) rs200756131 0.00002
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904 0.00002
NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu) rs28939679 0.00001
NM_002496.4(NDUFS8):c.343A>G (p.Lys115Glu) rs764276946 0.00001
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln) rs782021521 0.00001
NM_003172.4(SURF1):c.74G>A (p.Trp25Ter) rs1187982748 0.00001
NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys) rs1302547655 0.00001
NM_005006.7(NDUFS1):c.1256G>A (p.Arg419Gln) rs776114731 0.00001
NM_017547.4(FOXRED1):c.734-1G>C rs1296948086 0.00001
NM_024120.5(NDUFAF5):c.604C>T (p.Gln202Ter) rs368690277 0.00001
NM_078470.6(COX15):c.305G>A (p.Trp102Ter) rs778412019 0.00001
NM_133259.4(LRPPRC):c.1723C>T (p.Arg575Ter) rs774934005 0.00001
NM_133259.4(LRPPRC):c.2326G>T (p.Glu776Ter) rs758615834 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.4128+1G>A rs1475772376 0.00001
NM_133259.4(LRPPRC):c.650+1G>C rs1249427615 0.00001
NC_000005.9:g.(?_60240955)_(60241210_60368951)del
NC_000006.11:g.(99328501_99347143)_(99375699_99395681)del
NC_000011.9:g.(67377107_67377851)_(67380013_?)del
NC_000011.9:g.(67378042_67378465)_(67380013_?)del
NC_012920.1(MT-ATP6):m.8783G>A rs1603221804
NC_012920.1(MT-ATP6):m.9049G>A rs1603222011
NC_012920.1(MT-ATP6):m.9134A>G rs1603222119
NC_012920.1(MT-CO1):m.6526T>C rs1603220522
NC_012920.1(MT-ND1):m.3685T>C rs1603219079
NC_012920.1(MT-ND2):m.4611del rs1603219523
NC_012920.1(MT-ND3):m.10197G>A rs267606891
NC_012920.1(MT-ND4):m.11621_11622del rs1603223363
NC_012920.1(MT-ND5):m.12923G>A
NC_012920.1(MT-ND5):m.13063G>A rs1603224017
NC_012920.1:m.8851T>C rs199476136
NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg) rs1057521059
NM_001278716.2(FBXL4):c.1435_1439delinsG (p.Lys479fs)
NM_001278716.2(FBXL4):c.1435_1440delinsGAAAAAT (p.Lys479fs)
NM_001278716.2(FBXL4):c.1544del (p.Cys515fs) rs2128375658
NM_001697.3(ATP5PO):c.87+3A>G rs1987287870
NM_002495.4(NDUFS4):c.221del (p.Thr74fs)
NM_002495.4(NDUFS4):c.472_476dup (p.Tyr160fs) rs1740730588
NM_002495.4(NDUFS4):c.504_511del (p.Arg169fs)
NM_002496.4(NDUFS8):c.441G>C (p.Met147Ile) rs1267554976
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) rs863224229
NM_003172.4(SURF1):c.106+1G>C rs863224926
NM_003172.4(SURF1):c.183_186del (p.Leu62fs) rs1433471292
NM_003172.4(SURF1):c.22C>T (p.Gln8Ter) rs1836590782
NM_003172.4(SURF1):c.281dup (p.Leu94fs) rs1588691786
NM_003172.4(SURF1):c.504C>A (p.Cys168Ter) rs1564349087
NM_003172.4(SURF1):c.51_54+1dup rs2119089032
NM_003172.4(SURF1):c.534_535del (p.Asn178fs) rs1242159511
NM_003172.4(SURF1):c.54+1G>A
NM_003172.4(SURF1):c.54+34_55-2del
NM_003172.4(SURF1):c.54+40_55del
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003172.4(SURF1):c.631_632del (p.Glu211fs) rs1554768333
NM_003172.4(SURF1):c.752-3C>G
NM_003172.4(SURF1):c.754_755del rs782007828
NM_003172.4(SURF1):c.759dup (p.Val254fs) rs1554768246
NM_003172.4(SURF1):c.794_795dup (p.Thr266fs) rs1588688823
NM_003172.4(SURF1):c.799_800del (p.Leu267fs) rs864309500
NM_003172.4(SURF1):c.833+1G>C rs782609482
NM_003172.4(SURF1):c.833+1_833+2insACCTGGGGAC rs2119079909
NM_004092.4(ECHS1):c.123_124del (p.Gly42fs) rs746519257
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg) rs587776497
NM_005006.7(NDUFS1):c.1393-7_1393-3del rs1559047521
NM_005006.7(NDUFS1):c.518T>G (p.Met173Arg) rs747249702
NM_007103.4(NDUFV1):c.-8_16del (p.Met1_Arg6del)
NM_007103.4(NDUFV1):c.1129G>T (p.Glu377Ter) rs1591111808
NM_015378.4(VPS13D):c.12662+1059C>G
NM_017446.4(MRPL39):c.526del (p.Ser176fs)
NM_017446.4(MRPL39):c.589-924G>A rs1209423257
NM_017446.4(MRPL39):c.921+5G>A
NM_017547.4(FOXRED1):c.265C>T (p.Arg89Ter)
NM_018060.4(IARS2):c.547_550del (p.Lys183fs)
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys) rs1131692037
NM_024120.5(NDUFAF5):c.27_29delinsG (p.Leu10fs) rs2147463824
NM_024120.5(NDUFAF5):c.519+2T>C
NM_024120.5(NDUFAF5):c.519+2T>G rs2147534220
NM_024120.5(NDUFAF5):c.712_715del (p.Thr238fs)
NM_024407.5(NDUFS7):c.17-1167C>G rs1568985256
NM_078470.6(COX15):c.79_90+3delinsGACT
NM_133259.4(LRPPRC):c.1082_1083delinsT (p.Cys361fs)
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.1156-2A>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.1216_1237dup (p.Cys413fs)
NM_133259.4(LRPPRC):c.1261+2T>C rs1553410852
NM_133259.4(LRPPRC):c.1277T>A (p.Leu426Ter)
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.149+1G>T
NM_133259.4(LRPPRC):c.1493_1495delinsTTGT (p.Asn498fs)
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.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.1589C>A (p.Ser530Ter) rs775735922
NM_133259.4(LRPPRC):c.1612C>T (p.Gln538Ter) rs1553406772
NM_133259.4(LRPPRC):c.1677+1G>T rs2103624540
NM_133259.4(LRPPRC):c.1695C>G (p.Tyr565Ter) rs1672822541
NM_133259.4(LRPPRC):c.1722_1723del (p.Gly576fs) rs750343121
NM_133259.4(LRPPRC):c.1735+2T>C
NM_133259.4(LRPPRC):c.1775del (p.Met592fs)
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.1931T>A (p.Leu644Ter)
NM_133259.4(LRPPRC):c.1944_1947del (p.Ser648fs)
NM_133259.4(LRPPRC):c.1947_1948del (p.Asn650fs)
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.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.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.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.2369dup (p.His791fs) rs2105077651
NM_133259.4(LRPPRC):c.2406_2407del (p.Glu803fs)
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.2488_2489del (p.Thr830fs)
NM_133259.4(LRPPRC):c.2505-1G>T rs1553400727
NM_133259.4(LRPPRC):c.251_254del (p.Asp84fs) rs1553413047
NM_133259.4(LRPPRC):c.2545_2558del (p.Tyr849fs) rs1553400685
NM_133259.4(LRPPRC):c.2559dup (p.Val854fs)
NM_133259.4(LRPPRC):c.2569_2585del (p.Arg857fs)
NM_133259.4(LRPPRC):c.2630-5_2630-2del
NM_133259.4(LRPPRC):c.2632dup (p.Met878fs)
NM_133259.4(LRPPRC):c.2736+1G>T rs1553400391
NM_133259.4(LRPPRC):c.2737-1G>T rs1553398334
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.2941del (p.Ile981fs)
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.3044G>A (p.Trp1015Ter)
NM_133259.4(LRPPRC):c.3045G>A (p.Trp1015Ter) rs1202515342
NM_133259.4(LRPPRC):c.3130C>T (p.Arg1044Ter) rs1558936154
NM_133259.4(LRPPRC):c.3148+1G>T
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.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.3286del (p.His1096fs) rs797044605
NM_133259.4(LRPPRC):c.3313dup (p.Ala1105fs)
NM_133259.4(LRPPRC):c.346+1G>T
NM_133259.4(LRPPRC):c.3465_3466delinsA (p.Glu1156fs)
NM_133259.4(LRPPRC):c.3563_3566del (p.Ile1188fs)
NM_133259.4(LRPPRC):c.3566dup (p.Asn1190fs) rs762254417
NM_133259.4(LRPPRC):c.3645C>G (p.Tyr1215Ter)
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.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.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.3826-1G>A
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.3G>A (p.Met1Ile) rs1553416989
NM_133259.4(LRPPRC):c.406_407del (p.Glu136fs)
NM_133259.4(LRPPRC):c.4114_4115insAT (p.Phe1372fs)
NM_133259.4(LRPPRC):c.4128+2T>G rs1553388067
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.580del (p.Gln194fs)
NM_133259.4(LRPPRC):c.589C>T (p.Arg197Ter) rs989113962
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.650+1G>A
NM_133259.4(LRPPRC):c.650+1del
NM_133259.4(LRPPRC):c.738-1G>A
NM_133259.4(LRPPRC):c.738-2A>C
NM_133259.4(LRPPRC):c.811del (p.Leu271fs)
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_152416.4(NDUFAF6):c.719G>T (p.Gly240Val) rs762620949
NM_174889.5(NDUFAF2):c.9_10del (p.Trp3fs)
m.12706T>C rs267606893
m.14453G>A rs199476107

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.