ClinVar Miner

List of variants in gene HEPACAM reported as likely 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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_152722.5(HEPACAM):c.258G>A (p.Glu86=)	rs35466065	0.00669
NM_152722.5(HEPACAM):c.1062C>T (p.Pro354=)	rs780208452	0.00017

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