ClinVar Miner

List of variants reported as uncertain significance for Megalencephalic leukoencephalopathy with subcortical cysts

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Total variants: 76
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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_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr) rs536963649 0.00087
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_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.*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_152722.5(HEPACAM):c.709+12C>T rs532459336 0.00007
NM_152722.5(HEPACAM):c.87C>G (p.Asp29Glu) rs148838622 0.00007
NM_152722.5(HEPACAM):c.871C>T (p.Pro291Ser) rs777480834 0.00005
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_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_015166.4(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_015166.4(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.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_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_015166.4(MLC1):c.198G>A (p.Ser66=) rs199991229
NM_015166.4(MLC1):c.404T>C (p.Leu135Pro) rs1258044054
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.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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