ClinVar Miner

List of variants studied for Megalencephalic leukoencephalopathy with subcortical cysts

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Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_152722.5(HEPACAM):c.*1279A>G rs3802904 0.76330
NM_152722.5(HEPACAM):c.652A>G (p.Met218Val) rs10790715 0.75929
NM_015166.4(MLC1):c.895-259G>A rs8142282 0.49774
NM_152722.5(HEPACAM):c.618C>T (p.Arg206=) rs10790716 0.20834
NM_152722.5(HEPACAM):c.877+14C>T rs11826299 0.15246
NM_152722.5(HEPACAM):c.*457_*460del rs72505890 0.13016
NM_015166.4(MLC1):c.895-9C>T rs11568185 0.11704
NM_015166.4(MLC1):c.597A>G (p.Ser199=) rs6010164 0.11147
NM_015166.4(MLC1):c.594C>T (p.Tyr198=) rs6010165 0.11145
NM_015166.4(MLC1):c.978C>T (p.Cys326=) rs11568186 0.10918
NM_015166.4(MLC1):c.996T>C (p.Ser332=) rs11568187 0.10904
NM_015166.4(MLC1):c.512G>T (p.Cys171Phe) rs6010260 0.10037
NM_015166.4(MLC1):c.895-261A>G rs8136173 0.09460
NM_015166.4(MLC1):c.1031A>G (p.Asn344Ser) rs11568188 0.09405
NM_152722.5(HEPACAM):c.*460G>T rs12576272 0.07662
NM_152722.5(HEPACAM):c.*1206T>A rs78859654 0.07422
NM_152722.5(HEPACAM):c.*338C>A rs75988347 0.06504
NM_152722.5(HEPACAM):c.971A>G (p.Asn324Ser) rs116102273 0.05505
NM_152722.5(HEPACAM):c.*456_*460del rs886047924 0.04692
NM_015166.4(MLC1):c.-59-17T>C rs9628323 0.03393
NM_152722.4(HEPACAM):c.-82T>C rs6590110 0.03326
NM_152722.5(HEPACAM):c.339G>A (p.Gln113=) rs74570840 0.02928
NM_152722.5(HEPACAM):c.363G>A (p.Glu121=) rs112686308 0.02736
NM_152722.5(HEPACAM):c.*50C>G rs192160991 0.01463
NM_152722.5(HEPACAM):c.*458T>C rs878911099 0.01425
NM_152722.5(HEPACAM):c.8G>C (p.Arg3Thr) rs35446349 0.01233
NM_152722.5(HEPACAM):c.975G>A (p.Pro325=) rs116536622 0.00836
NM_152722.5(HEPACAM):c.258G>A (p.Glu86=) rs35466065 0.00669
NM_015166.4(MLC1):c.216G>A (p.Leu72=) rs78365284 0.00499
NM_015166.4(MLC1):c.279G>A (p.Ser93=) rs11568172 0.00422
NM_152722.5(HEPACAM):c.*1614A>T rs79225627 0.00396
NM_152722.5(HEPACAM):c.288A>C (p.Arg96=) rs36089266 0.00382
NM_152722.4(HEPACAM):c.-67G>T rs28372748 0.00379
NM_152722.5(HEPACAM):c.*363dup rs577667880 0.00356
NM_152722.5(HEPACAM):c.*1852C>G rs112607377 0.00310
NM_152722.5(HEPACAM):c.*270C>G rs143343787 0.00277
NM_152722.5(HEPACAM):c.851A>G (p.Gln284Arg) rs77759828 0.00225
NM_152722.5(HEPACAM):c.234C>T (p.Thr78=) rs139887254 0.00162
NM_152722.5(HEPACAM):c.*472T>G rs372662415 0.00133
NM_015166.4(MLC1):c.628G>A (p.Val210Ile) rs11568178 0.00110
NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr) rs536963649 0.00087
NM_015166.4(MLC1):c.627C>T (p.Ala209=) rs138153307 0.00071
NM_015166.4(MLC1):c.601G>A (p.Val201Ile) rs147572634 0.00063
NM_015166.4(MLC1):c.1053T>C (p.Ala351=) rs11568190 0.00056
NM_152722.5(HEPACAM):c.*989G>T rs886047920 0.00054
NM_152722.5(HEPACAM):c.862C>T (p.Arg288Cys) rs149782549 0.00053
NM_152722.5(HEPACAM):c.636C>T (p.Asp212=) rs137886095 0.00036
NM_152722.5(HEPACAM):c.*1476C>T rs886047918 0.00034
NM_015166.4(MLC1):c.598-9C>T rs200463656 0.00033
NM_152722.5(HEPACAM):c.591C>T (p.Pro197=) rs201011094 0.00031
NM_152722.5(HEPACAM):c.-28G>A rs146644154 0.00030
NM_152722.5(HEPACAM):c.428-8C>T rs372037019 0.00029
NM_015166.4(MLC1):c.76G>A (p.Ala26Thr) rs201522059 0.00021
NM_152722.5(HEPACAM):c.*192T>C rs886047929 0.00019
NM_015166.4(MLC1):c.477G>A (p.Thr159=) rs374829012 0.00013
NM_152722.5(HEPACAM):c.702C>T (p.Thr234=) rs143069676 0.00013
NM_015166.4(MLC1):c.65G>A (p.Arg22Gln) rs184241759 0.00011
NM_152722.5(HEPACAM):c.740C>T (p.Thr247Ile) rs145619784 0.00011
NM_015166.4(MLC1):c.95C>T (p.Ala32Val) rs200382943 0.00010
NM_015166.4(MLC1):c.120G>A (p.Ser40=) rs557978926 0.00007
NM_152722.5(HEPACAM):c.709+12C>T rs532459336 0.00007
NM_152722.5(HEPACAM):c.87C>G (p.Asp29Glu) rs148838622 0.00007
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) rs121908345 0.00006
NM_015166.4(MLC1):c.715-5C>A rs751850836 0.00006
NM_152722.5(HEPACAM):c.871C>T (p.Pro291Ser) rs777480834 0.00005
NM_015166.4(MLC1):c.1032C>T (p.Asn344=) rs199707637 0.00004
NM_015166.4(MLC1):c.648C>A (p.Ala216=) rs765062227 0.00004
NM_015166.4(MLC1):c.772-13G>A rs774940679 0.00004
NM_152722.5(HEPACAM):c.*1634A>G rs1348211442 0.00004
NM_152722.5(HEPACAM):c.*411G>C rs75424064 0.00004
NM_152722.5(HEPACAM):c.*709C>T rs539433968 0.00004
NM_015166.4(MLC1):c.1026C>G (p.Thr342=) rs201417187 0.00003
NM_015166.4(MLC1):c.1033G>A (p.Gly345Ser) rs746212879 0.00003
NM_152722.5(HEPACAM):c.*1278C>T rs201178398 0.00003
NM_152722.5(HEPACAM):c.*1799T>C rs886047917 0.00003
NM_152722.5(HEPACAM):c.*392C>T rs886047927 0.00003
NM_152722.5(HEPACAM):c.*862C>A rs886047922 0.00003
NM_152722.5(HEPACAM):c.133G>A (p.Gly45Ser) rs751190197 0.00003
NM_152722.5(HEPACAM):c.472C>T (p.Leu158=) rs781748998 0.00003
NM_015166.4(MLC1):c.1110C>T (p.Ala370=) rs760778847 0.00002
NM_015166.4(MLC1):c.486C>T (p.Ile162=) rs754667390 0.00002
NM_015166.4(MLC1):c.544G>A (p.Ala182Thr) rs537457768 0.00002
NM_015166.4(MLC1):c.59G>A (p.Arg20Gln) rs766921234 0.00002
NM_152722.5(HEPACAM):c.*1033A>G rs537876767 0.00002
NM_152722.5(HEPACAM):c.*727G>A rs1240266014 0.00002
NM_152722.5(HEPACAM):c.235G>A (p.Val79Met) rs764390226 0.00002
NM_015166.4(MLC1):c.1071C>T (p.Ser357=) rs1270153559 0.00001
NM_015166.4(MLC1):c.1081G>A (p.Glu361Lys) rs373419167 0.00001
NM_015166.4(MLC1):c.1086C>T (p.Phe362=) rs751390945 0.00001
NM_015166.4(MLC1):c.136del (p.Cys46fs) rs1057516766 0.00001
NM_015166.4(MLC1):c.177+1G>T rs1374593138 0.00001
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu) rs281875309 0.00001
NM_015166.4(MLC1):c.222C>T (p.Asn74=) rs759148867 0.00001
NM_015166.4(MLC1):c.249G>T (p.Leu83Phe) rs1289520784 0.00001
NM_015166.4(MLC1):c.251G>A (p.Arg84His) rs1425784992 0.00001
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu) rs80358245 0.00001
NM_015166.4(MLC1):c.532A>G (p.Met178Val) rs373527911 0.00001
NM_015166.4(MLC1):c.693G>A (p.Thr231=) rs756589485 0.00001
NM_015166.4(MLC1):c.882G>A (p.Pro294=) rs200163312 0.00001
NM_015166.4(MLC1):c.973C>T (p.Gln325Ter) rs1057516465 0.00001
NM_152722.5(HEPACAM):c.*629G>A rs886047923 0.00001
NM_152722.5(HEPACAM):c.*666G>A rs1479381777 0.00001
NM_152722.5(HEPACAM):c.*88G>T rs886047933 0.00001
NM_152722.5(HEPACAM):c.469G>A (p.Val157Met) rs748682631 0.00001
NM_152722.5(HEPACAM):c.592G>A (p.Asp198Asn) rs570071609 0.00001
NM_015166.3(MLC1):c.-207_-205dup rs886057627
NM_015166.3(MLC1):c.-528dup rs137931
NM_015166.4(MLC1):c.*1368dup rs200990035
NM_015166.4(MLC1):c.*1981dup rs145385166
NM_015166.4(MLC1):c.*377_*378insGGGGGTC rs141063000
NM_015166.4(MLC1):c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC (p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal) rs745656804
NM_015166.4(MLC1):c.135dup (p.Cys46fs) rs80358241
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015166.4(MLC1):c.198G>A (p.Ser66=) rs199991229
NM_015166.4(MLC1):c.250C>T (p.Arg84Cys) rs281875311
NM_015166.4(MLC1):c.255T>G (p.Cys85Trp) rs2146932748
NM_015166.4(MLC1):c.299_423+108del rs1602049346
NM_015166.4(MLC1):c.404T>C (p.Leu135Pro) rs1258044054
NM_015166.4(MLC1):c.423+1G>T rs752428321
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer) rs267607236
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg) rs281875317
NM_015166.4(MLC1):c.634G>C (p.Gly212Arg) rs281875317
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys) rs41302601
NM_015166.4(MLC1):c.701G>A (p.Trp234Ter) rs781004589
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu) rs1050220787
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys) rs281875313
NM_015166.4(MLC1):c.991G>T (p.Val331Phe) rs1407502869
NM_152722.5(HEPACAM):c.*1024G>C rs1947106730
NM_152722.5(HEPACAM):c.*105G>A rs886047932
NM_152722.5(HEPACAM):c.*112G>A rs10893303
NM_152722.5(HEPACAM):c.*112G>C rs10893303
NM_152722.5(HEPACAM):c.*112G>T rs10893303
NM_152722.5(HEPACAM):c.*116G>A rs886047931
NM_152722.5(HEPACAM):c.*116dup rs886047930
NM_152722.5(HEPACAM):c.*1235G>A rs1947101116
NM_152722.5(HEPACAM):c.*1283CCT[2] rs527377754
NM_152722.5(HEPACAM):c.*1451del rs886047919
NM_152722.5(HEPACAM):c.*1479T>C rs566864287
NM_152722.5(HEPACAM):c.*1794GTTT[3] rs560243987
NM_152722.5(HEPACAM):c.*1852C>T rs112607377
NM_152722.5(HEPACAM):c.*207G>T rs886047928
NM_152722.5(HEPACAM):c.*342G>A rs1947121103
NM_152722.5(HEPACAM):c.*419G>C rs886047926
NM_152722.5(HEPACAM):c.*459T>C rs200659876
NM_152722.5(HEPACAM):c.*459T>G rs200659876
NM_152722.5(HEPACAM):c.*459_*460insCC rs886047925
NM_152722.5(HEPACAM):c.*831G>T rs115556036
NM_152722.5(HEPACAM):c.*83G>A rs774632092
NM_152722.5(HEPACAM):c.*943G>A rs886047921
NM_152722.5(HEPACAM):c.1060C>T (p.Pro354Ser) rs1947134249
NM_152722.5(HEPACAM):c.1128G>A (p.Ser376=) rs1027354479
NM_152722.5(HEPACAM):c.15G>T (p.Arg5Ser) rs866054353
NM_152722.5(HEPACAM):c.217C>G (p.Arg73Gly) rs768471108
NM_152722.5(HEPACAM):c.254C>T (p.Thr85Ile) rs886047935
NM_152722.5(HEPACAM):c.291C>G (p.Asp97Glu) rs886047934
NM_152722.5(HEPACAM):c.573G>C (p.Ser191=) rs538960313
NM_152722.5(HEPACAM):c.803+6G>A rs544709540

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