ClinVar Miner

List of variants reported as uncertain significance for leukoencephalopathy, megalencephalic

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 195
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HGVS dbSNP gnomAD frequency
NM_152722.5(HEPACAM):c.*457_*460del rs72505890 0.13016
NM_152722.5(HEPACAM):c.*460G>T rs12576272 0.07662
NM_152722.5(HEPACAM):c.*456_*460del rs886047924 0.04692
NM_152722.5(HEPACAM):c.*458T>C rs878911099 0.01425
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_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.*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_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.259G>A (p.Val87Ile) rs142346902 0.00050
NM_015166.4(MLC1):c.*1306G>A rs575620990 0.00041
NM_015166.3(MLC1):c.-602G>C rs886057629 0.00040
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.428-8C>T rs372037019 0.00029
NM_152722.5(HEPACAM):c.1198G>A (p.Val400Met) rs770477104 0.00024
NM_015166.4(MLC1):c.983G>A (p.Arg328His) rs145376667 0.00022
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_152722.5(HEPACAM):c.*192T>C rs886047929 0.00019
NM_015166.4(MLC1):c.*964G>C rs1009356347 0.00016
NM_015166.4(MLC1):c.230C>T (p.Pro77Leu) rs145484765 0.00015
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_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.*1787G>A rs992340649 0.00009
NM_015166.4(MLC1):c.*18C>T rs111797969 0.00009
NM_152722.5(HEPACAM):c.139G>A (p.Val47Met) rs149730492 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.715-5C>A rs751850836 0.00006
NM_152722.5(HEPACAM):c.128T>A (p.Ile43Asn) rs781030435 0.00006
NM_152722.5(HEPACAM):c.484G>A (p.Glu162Lys) rs146398351 0.00005
NM_152722.5(HEPACAM):c.871C>T (p.Pro291Ser) rs777480834 0.00005
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.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_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_152722.5(HEPACAM):c.96G>C (p.Glu32Asp) rs768700664 0.00003
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.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_015166.3(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.1081G>A (p.Glu361Lys) rs373419167 0.00001
NM_015166.4(MLC1):c.1086C>T (p.Phe362=) rs751390945 0.00001
NM_015166.4(MLC1):c.177+1G>T rs1374593138 0.00001
NM_015166.4(MLC1):c.240G>A (p.Met80Ile) rs281875310 0.00001
NM_015166.4(MLC1):c.329A>G (p.Asn110Ser) rs766524233 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.821C>T (p.Thr274Ile) rs1227088497 0.00001
NM_015166.4(MLC1):c.882G>A (p.Pro294=) rs200163312 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.217C>T (p.Arg73Trp) rs768471108 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_152722.5(HEPACAM):c.803+1G>A rs375712202 0.00001
NM_001650.7(AQP4):c.646C>T (p.Arg216Ter)
NM_015166.3(MLC1):c.-207_-205dup rs886057627
NM_015166.3(MLC1):c.-455G>C rs886057628
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.*1493A>G rs886057620
NM_015166.4(MLC1):c.*1934G>A rs903750326
NM_015166.4(MLC1):c.*1951A>G rs2061524291
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.*451T>G rs2061552087
NM_015166.4(MLC1):c.*601C>A rs2061549471
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.-59-1G>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.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.177+5G>A rs1555968723
NM_015166.4(MLC1):c.177G>A (p.Gly59=) rs2062237520
NM_015166.4(MLC1):c.183C>A (p.Cys61Ter) rs1436214826
NM_015166.4(MLC1):c.198G>A (p.Ser66=) rs199991229
NM_015166.4(MLC1):c.235G>A (p.Glu79Lys) rs1378938503
NM_015166.4(MLC1):c.256G>C (p.Ala86Pro) rs2062186870
NM_015166.4(MLC1):c.260C>T (p.Ala87Val)
NM_015166.4(MLC1):c.286G>T (p.Val96Leu) rs2146908387
NM_015166.4(MLC1):c.35A>C (p.Tyr12Ser) rs142192701
NM_015166.4(MLC1):c.404T>C (p.Leu135Pro) rs1258044054
NM_015166.4(MLC1):c.41G>A (p.Arg14Gln) rs1362564136
NM_015166.4(MLC1):c.493C>T (p.Arg165Trp)
NM_015166.4(MLC1):c.54G>A (p.Leu18=) rs2146945150
NM_015166.4(MLC1):c.626C>A (p.Ala209Asp)
NM_015166.4(MLC1):c.714+5G>A
NM_015166.4(MLC1):c.74C>G (p.Pro25Arg) rs886057625
NM_015166.4(MLC1):c.771+2dup rs1555965439
NM_015166.4(MLC1):c.772-15G>A rs374916974
NM_015166.4(MLC1):c.819C>G (p.Phe273Leu) rs2061767679
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>T (p.Ser280Leu) rs121908341
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[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.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.*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.*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.*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.1169_1180del (p.Ser390_Arg393del) rs948072870
NM_152722.5(HEPACAM):c.1238A>T (p.Glu413Val)
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.614C>T (p.Thr205Ile) rs746134081
NM_152722.5(HEPACAM):c.665C>T (p.Pro222Leu) rs1947170395
NM_152722.5(HEPACAM):c.769G>C (p.Val257Leu)
NM_152722.5(HEPACAM):c.803+6G>A rs544709540
NM_152722.5(HEPACAM):c.922A>G (p.Met308Val) rs1947151824
NM_152722.5(HEPACAM):c.952T>A (p.Ser318Thr) rs1947137638

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