List of variants reported as pathogenic for Megalencephalic leukoencephalopathy with subcortical cysts 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_015166.4(MLC1):c.423+1G>A	rs752428321	0.00001
NM_015166.4(MLC1):c.135dup (p.Cys46fs)	rs80358241
NM_015166.4(MLC1):c.177+1del
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer)	rs267607236
NM_015166.4(MLC1):c.908_918delinsGCA (p.Val303fs)	rs2146772952

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