ClinVar Miner

List of variants reported as pathogenic for leukoencephalopathy, megalencephalic by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

Included ClinVar conditions (8):

Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts 1
Megalencephalic leukoencephalopathy with subcortical cysts 1; Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Megalencephalic leukoencephalopathy with subcortical cysts 2A
Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Megalencephalic leukoencephalopathy with subcortical cysts 3
Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer)	rs267607236
NM_152722.5(HEPACAM):c.382G>A (p.Asp128Asn)	rs1947184803

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