ClinVar Miner

List of variants reported as benign for megalencephalic leukoencephalopathy with subcortical cysts 2A

Included ClinVar conditions (3):

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

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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_152722.5(HEPACAM):c.652A>G (p.Met218Val)	rs10790715	0.75929
NM_152722.5(HEPACAM):c.618C>T (p.Arg206=)	rs10790716	0.20834

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