ClinVar Miner

List of variants studied for megalencephalic leukoencephalopathy with subcortical cysts 1 by Genome-Nilou Lab

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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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.714+28G>A rs2038048 0.37853
NM_015166.4(MLC1):c.895-139G>A rs11568183 0.27262
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_015166.4(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.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.512G>T (p.Cys171Phe) rs6010260 0.10037
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.177+77G>A rs55751312 0.02752
NM_015166.4(MLC1):c.*55C>T rs41283496 0.02067
NM_015166.4(MLC1):c.894+128C>T rs11568181 0.00612
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.1053T>C (p.Ala351=) rs11568190 0.00056
NM_015166.4(MLC1):c.1059+13C>T rs775704952 0.00023
NM_015166.4(MLC1):c.1087G>A (p.Asp363Asn) rs779971307 0.00004
NM_015166.4(MLC1):c.1111G>A (p.Val371Ile) rs200273593 0.00003
NM_015166.4(MLC1):c.544G>A (p.Ala182Thr) rs537457768 0.00002
NM_015166.4(MLC1):c.1059+20A>T rs746438468
NM_015166.4(MLC1):c.41G>A (p.Arg14Gln) rs1362564136
NM_015166.4(MLC1):c.54G>A (p.Leu18=) rs2146945150
NM_015166.4(MLC1):c.772-80C>G rs75474964

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