ClinVar Miner

List of variants in gene MLC1 studied for Megalencephalic leukoencephalopathy with subcortical cysts

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.895-259G>A rs8142282 0.49774
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_015166.4(MLC1):c.-59-17T>C rs9628323 0.03393
NM_015166.4(MLC1):c.279G>A (p.Ser93=) rs11568172 0.00422
NM_015166.4(MLC1):c.628G>A (p.Val210Ile) rs11568178 0.00110
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_015166.4(MLC1):c.598-9C>T rs200463656 0.00033
NM_015166.4(MLC1):c.76G>A (p.Ala26Thr) rs201522059 0.00021
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.120G>A (p.Ser40=) rs557978926 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_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_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.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_015166.4(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.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_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.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

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