ClinVar Miner

List of variants studied for Megalencephalic leukoencephalopathy with subcortical cysts by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015166.4(MLC1):c.177+1G>T	rs1374593138	0.00001
NM_015166.4(MLC1):c.404T>C (p.Leu135Pro)	rs1258044054

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