ClinVar Miner

List of variants reported as likely benign for leukoencephalopathy, megalencephalic by Illumina Laboratory Services, Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_152722.4(HEPACAM):c.-82T>C rs6590110 0.03326
NM_152722.5(HEPACAM):c.8G>C (p.Arg3Thr) rs35446349 0.01233
NM_015166.4(MLC1):c.*215C>T rs148160537 0.00690
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.*1689T>G rs188855026 0.00406
NM_015166.4(MLC1):c.*1499C>T rs144067372 0.00332
NM_152722.5(HEPACAM):c.*270C>G rs143343787 0.00277
NM_015166.4(MLC1):c.*660C>T rs139148001 0.00263
NM_152722.5(HEPACAM):c.234C>T (p.Thr78=) rs139887254 0.00162
NM_152722.5(HEPACAM):c.*472T>G rs372662415 0.00133
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.*1368dup rs200990035
NM_015166.4(MLC1):c.*1981dup rs145385166
NM_015166.4(MLC1):c.*377_*378insGGGGGTC rs141063000
NM_015166.4(MLC1):c.*431C>T rs114598884
NM_152722.5(HEPACAM):c.*1479T>C rs566864287
NM_152722.5(HEPACAM):c.*831G>T rs115556036

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