ClinVar Miner

List of variants reported as likely pathogenic for congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 157
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys) rs187584458 0.00003
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
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.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)

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.