ClinVar Miner

List of variants studied for leukoencephalopathy, megalencephalic by Illumina Laboratory Services, Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 207
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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.*1127C>T rs9628320 0.24216
NM_015166.4(MLC1):c.*48A>G rs137919 0.23521
NM_152722.5(HEPACAM):c.618C>T (p.Arg206=) rs10790716 0.20834
NM_152722.5(HEPACAM):c.877+14C>T rs11826299 0.15246
NM_015166.4(MLC1):c.*45A>G rs2072873 0.14823
NM_015166.3(MLC1):c.-561G>A rs4838883 0.13827
NM_015166.4(MLC1):c.*1764G>T rs41283489 0.13206
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.*991T>G rs11704648 0.11696
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.*937C>T rs41283491 0.10778
NM_015166.4(MLC1):c.512G>T (p.Cys171Phe) rs6010260 0.10037
NM_015166.4(MLC1):c.*1836G>A rs11703598 0.09905
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.*1963C>G rs41283487 0.04214
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_015166.4(MLC1):c.*55C>T rs41283496 0.02067
NM_015166.4(MLC1):c.*1143C>T rs2294384 0.01944
NM_152722.5(HEPACAM):c.*50C>G rs192160991 0.01463
NM_015166.4(MLC1):c.*970G>C rs117474715 0.01437
NM_152722.5(HEPACAM):c.*458T>C rs878911099 0.01425
NM_152722.5(HEPACAM):c.8G>C (p.Arg3Thr) rs35446349 0.01233
NM_015166.4(MLC1):c.*1773G>C rs80312581 0.01130
NM_015166.4(MLC1):c.*1334G>A rs2294382 0.01127
NM_015166.3(MLC1):c.-156C>T rs2076126 0.01015
NM_152722.5(HEPACAM):c.975G>A (p.Pro325=) rs116536622 0.00836
NM_015166.4(MLC1):c.*339C>T rs115770001 0.00833
NM_015166.4(MLC1):c.*572C>T rs367816647 0.00818
NM_015166.4(MLC1):c.*1321A>G rs149073568 0.00778
NM_015166.4(MLC1):c.*12G>A rs142027672 0.00776
NM_015166.4(MLC1):c.*215C>T rs148160537 0.00690
NM_152722.5(HEPACAM):c.258G>A (p.Glu86=) rs35466065 0.00669
NM_015166.4(MLC1):c.932T>A (p.Val311Glu) rs141225099 0.00622
NM_015166.4(MLC1):c.*414C>T rs12484303 0.00577
NM_015166.4(MLC1):c.216G>A (p.Leu72=) rs78365284 0.00499
NM_015166.4(MLC1):c.*860A>C rs41283492 0.00426
NM_015166.4(MLC1):c.279G>A (p.Ser93=) rs11568172 0.00422
NM_015166.4(MLC1):c.*1689T>G rs188855026 0.00406
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_015166.4(MLC1):c.*1499C>T rs144067372 0.00332
NM_152722.5(HEPACAM):c.*1852C>G rs112607377 0.00310
NM_152722.5(HEPACAM):c.*270C>G rs143343787 0.00277
NM_015166.4(MLC1):c.*660C>T rs139148001 0.00263
NM_152722.5(HEPACAM):c.851A>G (p.Gln284Arg) rs77759828 0.00225
NM_015166.3(MLC1):c.-467G>A rs117812810 0.00208
NM_015166.3(MLC1):c.-540G>A rs370947362 0.00180
NM_152722.5(HEPACAM):c.234C>T (p.Thr78=) rs139887254 0.00162
NM_015166.4(MLC1):c.-110G>A rs886057626 0.00134
NM_152722.5(HEPACAM):c.*472T>G rs372662415 0.00133
NM_015166.4(MLC1):c.628G>A (p.Val210Ile) rs11568178 0.00110
NM_015166.4(MLC1):c.*730G>A rs528927093 0.00109
NM_015166.4(MLC1):c.*533T>C rs116535312 0.00093
NM_015166.4(MLC1):c.*1874G>A rs552491568 0.00089
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.*1781C>T rs551218638 0.00065
NM_015166.4(MLC1):c.-100A>G rs574287059 0.00058
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_015166.4(MLC1):c.*1306G>A rs575620990 0.00041
NM_015166.3(MLC1):c.-602G>C rs886057629 0.00040
NM_015166.4(MLC1):c.*773G>A rs4838880 0.00039
NM_152722.5(HEPACAM):c.636C>T (p.Asp212=) rs137886095 0.00036
NM_015166.4(MLC1):c.*549G>A rs538718275 0.00034
NM_015166.4(MLC1):c.561A>C (p.Glu187Asp) rs148532625 0.00034
NM_152722.5(HEPACAM):c.*1476C>T rs886047918 0.00034
NM_015166.4(MLC1):c.*430A>G rs41283494 0.00032
NM_015166.4(MLC1):c.*267G>A rs1021399359 0.00031
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.*829C>T rs949363571 0.00019
NM_015166.4(MLC1):c.*886T>C rs534183690 0.00019
NM_152722.5(HEPACAM):c.*192T>C rs886047929 0.00019
NM_015166.4(MLC1):c.*964G>C rs1009356347 0.00016
NM_015166.3(MLC1):c.-226A>G rs776721363 0.00014
NM_015166.4(MLC1):c.*1199G>T rs750057200 0.00014
NM_015166.4(MLC1):c.*2163T>G rs886057619 0.00013
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_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.*1787G>A rs992340649 0.00009
NM_015166.4(MLC1):c.*18C>T rs111797969 0.00009
NM_015166.4(MLC1):c.*461G>C rs769075736 0.00008
NM_015166.4(MLC1):c.*713C>T rs1028022150 0.00008
NM_015166.4(MLC1):c.*1398A>G rs1185528208 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.1060-9C>T rs569220214 0.00006
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.*2051G>A rs540245725 0.00004
NM_015166.4(MLC1):c.*788G>A rs886057622 0.00004
NM_015166.4(MLC1):c.*9C>T rs542817231 0.00004
NM_015166.4(MLC1):c.1032C>T (p.Asn344=) rs199707637 0.00004
NM_015166.4(MLC1):c.1087G>A (p.Asp363Asn) rs779971307 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.*2049G>A rs372824215 0.00003
NM_015166.4(MLC1):c.*2075A>G rs1215334314 0.00003
NM_015166.4(MLC1):c.*607C>T rs886057624 0.00003
NM_015166.4(MLC1):c.*717C>T rs1162468737 0.00003
NM_015166.4(MLC1):c.595T>C (p.Ser199Pro) rs140676811 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.472C>T (p.Leu158=) rs781748998 0.00003
NM_015166.3(MLC1):c.-414G>A rs543054100 0.00002
NM_015166.4(MLC1):c.*2167G>A rs886057618 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_015166.3(MLC1):c.-487G>A rs550844413 0.00001
NM_015166.4(MLC1):c.*580G>A rs527883161 0.00001
NM_015166.4(MLC1):c.*627G>A rs886057623 0.00001
NM_015166.4(MLC1):c.*824A>G rs4838879 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_015166.3(MLC1):c.-207_-205dup rs886057627
NM_015166.3(MLC1):c.-455G>C rs886057628
NM_015166.3(MLC1):c.-528dup rs137931
NM_015166.3(MLC1):c.-534G>A rs867494339
NM_015166.4(MLC1):c.*1115G>C rs909268509
NM_015166.4(MLC1):c.*1273C>A rs1013861019
NM_015166.4(MLC1):c.*1368dup rs200990035
NM_015166.4(MLC1):c.*1493A>G rs886057620
NM_015166.4(MLC1):c.*1623G>T rs35730155
NM_015166.4(MLC1):c.*1934G>A rs903750326
NM_015166.4(MLC1):c.*1951A>G rs2061524291
NM_015166.4(MLC1):c.*1981dup rs145385166
NM_015166.4(MLC1):c.*203A>G rs2061556620
NM_015166.4(MLC1):c.*2068C>G rs952288689
NM_015166.4(MLC1):c.*337C>T rs769484521
NM_015166.4(MLC1):c.*377_*378insGGGGGTC rs141063000
NM_015166.4(MLC1):c.*431C>T rs114598884
NM_015166.4(MLC1):c.*451T>G rs2061552087
NM_015166.4(MLC1):c.*601C>A rs2061549471
NM_015166.4(MLC1):c.*661G>C rs376823805
NM_015166.4(MLC1):c.*806C>A rs886057621
NM_015166.4(MLC1):c.*827G>C rs2061545213
NM_015166.4(MLC1):c.*863T>G rs1601954641
NM_015166.4(MLC1):c.*880C>G rs983942994
NM_015166.4(MLC1):c.*996T>C rs1386718894
NM_015166.4(MLC1):c.-59-14T>A rs141840641
NM_015166.4(MLC1):c.1050G>T (p.Leu350=) rs1221726228
NM_015166.4(MLC1):c.1113C>T (p.Val371=) rs1269494985
NM_015166.4(MLC1):c.35A>C (p.Tyr12Ser) rs142192701
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys) rs41302601
NM_015166.4(MLC1):c.74C>G (p.Pro25Arg) rs886057625
NM_015166.4(MLC1):c.772-15G>A rs374916974
NM_015166.4(MLC1):c.879C>T (p.Tyr293=) rs1569244149
NM_015166.4(MLC1):c.894+2T>G rs1569244131
NM_015166.4(MLC1):c.909GCT[8] (p.Leu310dup) rs761096481
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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