ClinVar Miner

List of variants in gene MLC1 studied for leukoencephalopathy, megalencephalic

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 283
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.321+50T>C rs79301 0.94928
NM_015166.4(MLC1):c.526-118C>T rs4838882 0.92209
NM_015166.4(MLC1):c.895-259G>A rs8142282 0.49774
NM_015166.4(MLC1):c.714+28G>A rs2038048 0.37853
NM_015166.4(MLC1):c.895-139G>A rs11568183 0.27262
NM_015166.4(MLC1):c.*1127C>T rs9628320 0.24216
NM_015166.4(MLC1):c.525+153G>A rs6010166 0.23729
NM_015166.4(MLC1):c.*48A>G rs137919 0.23521
NM_015166.4(MLC1):c.1059+16G>A rs5771338 0.17531
NM_015166.4(MLC1):c.894+194G>A rs2076127 0.16956
NM_015166.4(MLC1):c.*45A>G rs2072873 0.14823
NM_015166.4(MLC1):c.525+22G>A rs2072874 0.14143
NM_015166.4(MLC1):c.525+64G>A rs2076137 0.14127
NM_015166.3(MLC1):c.-561G>A rs4838883 0.13827
NM_015166.4(MLC1):c.*1764G>T rs41283489 0.13206
NM_015166.4(MLC1):c.771+175T>C rs2076132 0.11786
NM_015166.4(MLC1):c.771+160T>C rs2076133 0.11739
NM_015166.4(MLC1):c.771+59C>A rs2076135 0.11739
NM_015166.4(MLC1):c.771+61T>C rs2076134 0.11739
NM_015166.4(MLC1):c.772-35C>T rs11568179 0.11738
NM_015166.4(MLC1):c.894+52T>C rs5771349 0.11723
NM_015166.4(MLC1):c.894+199C>T rs5771142 0.11704
NM_015166.4(MLC1):c.895-9C>T rs11568185 0.11704
NM_015166.4(MLC1):c.895-23C>T rs11568184 0.11703
NM_015166.4(MLC1):c.*991T>G rs11704648 0.11696
NM_015166.4(MLC1):c.772-110A>G rs111258391 0.11687
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.895-261A>G rs8136173 0.09460
NM_015166.4(MLC1):c.1031A>G (p.Asn344Ser) rs11568188 0.09405
NM_015166.4(MLC1):c.771+158G>A rs35480507 0.08730
NM_015166.4(MLC1):c.1059+27A>G rs114282486 0.05667
NM_015166.4(MLC1):c.*1963C>G rs41283487 0.04214
NM_015166.4(MLC1):c.-59-17T>C rs9628323 0.03393
NM_015166.4(MLC1):c.177+77G>A rs55751312 0.02752
NM_015166.4(MLC1):c.*55C>T rs41283496 0.02067
NM_015166.4(MLC1):c.*1143C>T rs2294384 0.01944
NM_015166.4(MLC1):c.*970G>C rs117474715 0.01437
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_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_015166.4(MLC1):c.932T>A (p.Val311Glu) rs141225099 0.00622
NM_015166.4(MLC1):c.894+128C>T rs11568181 0.00612
NM_015166.4(MLC1):c.*414C>T rs12484303 0.00577
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_015166.4(MLC1):c.*1499C>T rs144067372 0.00332
NM_015166.4(MLC1):c.*660C>T rs139148001 0.00263
NM_015166.3(MLC1):c.-467G>A rs117812810 0.00208
NM_015166.3(MLC1):c.-540G>A rs370947362 0.00180
NM_015166.4(MLC1):c.-110G>A rs886057626 0.00134
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.177+15A>G rs148099137 0.00092
NM_015166.4(MLC1):c.*1874G>A rs552491568 0.00089
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.601G>A (p.Val201Ile) rs147572634 0.00063
NM_015166.4(MLC1):c.-100A>G rs574287059 0.00058
NM_015166.4(MLC1):c.1053T>C (p.Ala351=) rs11568190 0.00056
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_015166.4(MLC1):c.*549G>A rs538718275 0.00034
NM_015166.4(MLC1):c.561A>C (p.Glu187Asp) rs148532625 0.00034
NM_015166.4(MLC1):c.598-9C>T rs200463656 0.00033
NM_015166.4(MLC1):c.*430A>G rs41283494 0.00032
NM_015166.4(MLC1):c.*267G>A rs1021399359 0.00031
NM_015166.4(MLC1):c.1059+13C>T rs775704952 0.00023
NM_015166.4(MLC1):c.983G>A (p.Arg328His) rs145376667 0.00022
NM_015166.4(MLC1):c.76G>A (p.Ala26Thr) rs201522059 0.00021
NM_015166.4(MLC1):c.1008G>T (p.Gln336His) rs139336504 0.00020
NM_015166.4(MLC1):c.*829C>T rs949363571 0.00019
NM_015166.4(MLC1):c.*886T>C rs534183690 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_015166.4(MLC1):c.65G>A (p.Arg22Gln) rs184241759 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_015166.4(MLC1):c.120G>A (p.Ser40=) rs557978926 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_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.648C>A (p.Ala216=) rs765062227 0.00004
NM_015166.4(MLC1):c.772-13G>A rs774940679 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.1026C>G (p.Thr342=) rs201417187 0.00003
NM_015166.4(MLC1):c.1033G>A (p.Gly345Ser) rs746212879 0.00003
NM_015166.4(MLC1):c.1111G>A (p.Val371Ile) rs200273593 0.00003
NM_015166.4(MLC1):c.449_455del (p.Leu150fs) rs1057517090 0.00003
NM_015166.4(MLC1):c.595T>C (p.Ser199Pro) rs140676811 0.00003
NM_015166.4(MLC1):c.895-2A>G rs1183818307 0.00003
NM_015166.3(MLC1):c.-414G>A rs543054100 0.00002
NM_015166.4(MLC1):c.*2167G>A rs886057618 0.00002
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_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_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.278C>T (p.Ser93Leu) rs80358245 0.00001
NM_015166.4(MLC1):c.321+1G>A rs765879182 0.00001
NM_015166.4(MLC1):c.329A>G (p.Asn110Ser) rs766524233 0.00001
NM_015166.4(MLC1):c.353C>T (p.Thr118Met) rs281875316 0.00001
NM_015166.4(MLC1):c.423+1G>A rs752428321 0.00001
NM_015166.4(MLC1):c.525+1G>A rs769135961 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.714+1G>A rs761620701 0.00001
NM_015166.4(MLC1):c.754dup (p.Cys252fs) rs757250956 0.00001
NM_015166.4(MLC1):c.821C>T (p.Thr274Ile) rs1227088497 0.00001
NM_015166.4(MLC1):c.882G>A (p.Pro294=) rs200163312 0.00001
NM_015166.4(MLC1):c.925C>A (p.Leu309Met) rs80358240 0.00001
NM_015166.4(MLC1):c.973C>T (p.Gln325Ter) rs1057516465 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.-59-1G>C rs1555968825
NM_015166.4(MLC1):c.101C>T (p.Pro34Leu)
NM_015166.4(MLC1):c.1050G>T (p.Leu350=) rs1221726228
NM_015166.4(MLC1):c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC (p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal) rs745656804
NM_015166.4(MLC1):c.1059+1G>A rs1555963392
NM_015166.4(MLC1):c.1059+1G>T
NM_015166.4(MLC1):c.1059+20A>T rs746438468
NM_015166.4(MLC1):c.1060-2A>G
NM_015166.4(MLC1):c.1065del (p.Arg356fs) rs1555962643
NM_015166.4(MLC1):c.1076del (p.Leu359fs) rs1372842345
NM_015166.4(MLC1):c.1113C>T (p.Val371=) rs1269494985
NM_015166.4(MLC1):c.1132T>A (p.Ter378Arg) rs1555962581
NM_015166.4(MLC1):c.1132T>C (p.Ter378Arg) rs1555962581
NM_015166.4(MLC1):c.135dup (p.Cys46fs) rs80358241
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015166.4(MLC1):c.177+1del
NM_015166.4(MLC1):c.177+5G>A rs1555968723
NM_015166.4(MLC1):c.177G>A (p.Gly59=) rs2062237520
NM_015166.4(MLC1):c.271_272del (p.Ile91fs) rs1057516336
NM_015166.4(MLC1):c.286G>T (p.Val96Leu) rs2146908387
NM_015166.4(MLC1):c.298_423+108del rs1555967644
NM_015166.4(MLC1):c.299_423+108del rs1602049346
NM_015166.4(MLC1):c.321+1G>T rs765879182
NM_015166.4(MLC1):c.321+2T>C
NM_015166.4(MLC1):c.321+2T>G
NM_015166.4(MLC1):c.322-1G>T
NM_015166.4(MLC1):c.324del (p.Asn110fs) rs786204747
NM_015166.4(MLC1):c.337_353delinsG (p.Ile113fs) rs2062079566
NM_015166.4(MLC1):c.340_341del (p.Leu114fs)
NM_015166.4(MLC1):c.341T>A (p.Leu114Ter) rs1458824689
NM_015166.4(MLC1):c.346_349del (p.Val116fs)
NM_015166.4(MLC1):c.35A>C (p.Tyr12Ser) rs142192701
NM_015166.4(MLC1):c.368C>T (p.Thr123Ile) rs769089143
NM_015166.4(MLC1):c.377T>A (p.Leu126Ter) rs2062078281
NM_015166.4(MLC1):c.383G>A (p.Trp128Ter)
NM_015166.4(MLC1):c.393C>A (p.Cys131Ter) rs2062077684
NM_015166.4(MLC1):c.3G>A (p.Met1Ile)
NM_015166.4(MLC1):c.404T>C (p.Leu135Pro) rs1258044054
NM_015166.4(MLC1):c.413C>A (p.Ser138Ter) rs2062076867
NM_015166.4(MLC1):c.41G>A (p.Arg14Gln) rs1362564136
NM_015166.4(MLC1):c.422A>G (p.Asn141Ser) rs121908344
NM_015166.4(MLC1):c.423+1G>T rs752428321
NM_015166.4(MLC1):c.423+2dup rs1555967668
NM_015166.4(MLC1):c.423C>A (p.Asn141Lys) rs121908343
NM_015166.4(MLC1):c.42del (p.Met15fs) rs1555968785
NM_015166.4(MLC1):c.448del (p.Leu150fs) rs1555967227
NM_015166.4(MLC1):c.470C>A (p.Ala157Glu) rs1219458189
NM_015166.4(MLC1):c.489dup (p.Ala164fs)
NM_015166.4(MLC1):c.493C>T (p.Arg165Trp)
NM_015166.4(MLC1):c.517A>T (p.Lys173Ter) rs766461175
NM_015166.4(MLC1):c.521_524del (p.Lys174fs)
NM_015166.4(MLC1):c.525+2T>C
NM_015166.4(MLC1):c.526-2A>G
NM_015166.4(MLC1):c.54G>A (p.Leu18=) rs2146945150
NM_015166.4(MLC1):c.559G>T (p.Glu187Ter) rs761502278
NM_015166.4(MLC1):c.592del (p.Tyr198fs)
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer) rs267607236
NM_015166.4(MLC1):c.596C>G (p.Ser199Ter)
NM_015166.4(MLC1):c.597+1G>A
NM_015166.4(MLC1):c.597+2T>A rs1425964299
NM_015166.4(MLC1):c.617G>T (p.Gly206Val) rs1114167286
NM_015166.4(MLC1):c.624_625del (p.Ala209fs) rs1057517375
NM_015166.4(MLC1):c.626C>A (p.Ala209Asp)
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.639dup (p.Ile214fs) rs1449444164
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys) rs41302601
NM_015166.4(MLC1):c.67C>T (p.Gln23Ter) rs1057517228
NM_015166.4(MLC1):c.683_684insAATACTTTGA (p.Leu228_Ser229insIleLeuTer)
NM_015166.4(MLC1):c.701G>A (p.Trp234Ter) rs781004589
NM_015166.4(MLC1):c.714+5G>A
NM_015166.4(MLC1):c.736del (p.Ser246fs) rs2146830385
NM_015166.4(MLC1):c.74C>G (p.Pro25Arg) rs886057625
NM_015166.4(MLC1):c.752_753del (p.Glu251fs)
NM_015166.4(MLC1):c.759del (p.Ser254fs)
NM_015166.4(MLC1):c.771+2dup rs1555965439
NM_015166.4(MLC1):c.772-15G>A rs374916974
NM_015166.4(MLC1):c.772-1G>C
NM_015166.4(MLC1):c.772-80C>G rs75474964
NM_015166.4(MLC1):c.791dup (p.Ser265fs)
NM_015166.4(MLC1):c.798C>G (p.Ser266Arg) rs777790290
NM_015166.4(MLC1):c.803C>G (p.Thr268Arg)
NM_015166.4(MLC1):c.819C>G (p.Phe273Leu) rs2061767679
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp) rs764669598
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys) rs1569244190
NM_015166.4(MLC1):c.838_843delinsATTTTA (p.Ser280_Phe281delinsIleLeu)
NM_015166.4(MLC1):c.839C>A (p.Ser280Ter) rs121908341
NM_015166.4(MLC1):c.839C>T (p.Ser280Leu) rs121908341
NM_015166.4(MLC1):c.83dup (p.Tyr28Ter) rs1057516286
NM_015166.4(MLC1):c.848del (p.Ile283fs)
NM_015166.4(MLC1):c.849del (p.Ile283_Met284insTer)
NM_015166.4(MLC1):c.879C>T (p.Tyr293=) rs1569244149
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu) rs1050220787
NM_015166.4(MLC1):c.892A>T (p.Lys298Ter)
NM_015166.4(MLC1):c.894+1G>A
NM_015166.4(MLC1):c.894+2T>G rs1569244131
NM_015166.4(MLC1):c.895-1G>C rs755271052
NM_015166.4(MLC1):c.903C>G (p.Tyr301Ter) rs764754702
NM_015166.4(MLC1):c.908_914del (p.Val303fs) rs2146773018
NM_015166.4(MLC1):c.908_918delinsGCA (p.Val303fs) rs2146772952
NM_015166.4(MLC1):c.909GCT[10] (p.Leu308_Leu310dup) rs761096481
NM_015166.4(MLC1):c.909GCT[8] (p.Leu310dup) rs761096481
NM_015166.4(MLC1):c.917T>A (p.Leu306Gln) rs768711345
NM_015166.4(MLC1):c.923T>A (p.Leu308Gln) rs540358165
NM_015166.4(MLC1):c.93del (p.Asp31fs)
NM_015166.4(MLC1):c.943C>T (p.Gln315Ter) rs1569242061
NM_015166.4(MLC1):c.949_952del (p.Gly317fs)
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys) rs281875313
NM_015166.4(MLC1):c.991G>T (p.Val331Phe) rs1407502869

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