ClinVar Miner

List of variants in gene MLC1 reported as likely benign for Megalencephalic leukoencephalopathy with subcortical cysts 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.177+77G>A rs55751312 0.02654
NM_015166.4(MLC1):c.*215C>T rs148160537 0.00690
NM_015166.4(MLC1):c.894+128C>T rs11568181 0.00685
NM_015166.4(MLC1):c.932T>A (p.Val311Glu) rs141225099 0.00584
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 0.00372
NM_015166.4(MLC1):c.*1499C>T rs144067372 0.00332
NM_015166.4(MLC1):c.*660C>T rs139148001 0.00242
NM_015166.4(MLC1):c.628G>A (p.Val210Ile) rs11568178 0.00110
NM_015166.4(MLC1):c.177+15A>G rs148099137 0.00084
NM_015166.4(MLC1):c.627C>T (p.Ala209=) rs138153307 0.00070
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.*2051G>A rs540245725 0.00004
NM_015166.3(MLC1):c.-414G>A rs543054100 0.00002
NM_015166.4(MLC1):c.544G>A (p.Ala182Thr) rs537457768 0.00002
NM_015166.4(MLC1):c.882G>A (p.Pro294=) rs200163312 0.00001
NM_015166.4(MLC1):c.*431C>T rs114598884
NM_015166.4(MLC1):c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC (p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal) rs745656804
NM_015166.4(MLC1):c.1059+20A>T rs746438468
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys) rs41302601
NM_015166.4(MLC1):c.917T>A (p.Leu306Gln) rs768711345

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.