ClinVar Miner

List of variants reported as benign for Megalencephalic leukoencephalopathy with subcortical cysts by Illumina Laboratory Services, Illumina

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_152722.5(HEPACAM):c.*1279A>G rs3802904 0.76330
NM_152722.5(HEPACAM):c.652A>G (p.Met218Val) rs10790715 0.75929
NM_152722.5(HEPACAM):c.618C>T (p.Arg206=) rs10790716 0.20834
NM_152722.5(HEPACAM):c.877+14C>T rs11826299 0.15246
NM_152722.5(HEPACAM):c.*1206T>A rs78859654 0.07422
NM_152722.5(HEPACAM):c.*338C>A rs75988347 0.06504
NM_152722.5(HEPACAM):c.971A>G (p.Asn324Ser) rs116102273 0.05505
NM_152722.5(HEPACAM):c.339G>A (p.Gln113=) rs74570840 0.02928
NM_152722.5(HEPACAM):c.363G>A (p.Glu121=) rs112686308 0.02736
NM_152722.5(HEPACAM):c.*50C>G rs192160991 0.01463
NM_152722.5(HEPACAM):c.975G>A (p.Pro325=) rs116536622 0.00836
NM_152722.5(HEPACAM):c.258G>A (p.Glu86=) rs35466065 0.00669
NM_152722.5(HEPACAM):c.*1614A>T rs79225627 0.00396
NM_152722.5(HEPACAM):c.288A>C (p.Arg96=) rs36089266 0.00382
NM_152722.5(HEPACAM):c.851A>G (p.Gln284Arg) rs77759828 0.00225
NM_152722.5(HEPACAM):c.-28G>A rs146644154 0.00030
NM_015166.3(MLC1):c.-528dup rs137931
NM_152722.5(HEPACAM):c.*112G>T rs10893303
NM_152722.5(HEPACAM):c.*1794GTTT[3] rs560243987

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