List of variants reported as pathogenic for Megalencephalic leukoencephalopathy with subcortical cysts

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)	rs121908345	0.00006
NM_015166.4(MLC1):c.136del (p.Cys46fs)	rs1057516766	0.00001
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu)	rs281875309	0.00001
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)	rs80358245	0.00001
NM_015166.4(MLC1):c.135dup (p.Cys46fs)	rs80358241
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)	rs80358242
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer)	rs267607236
NM_015166.4(MLC1):c.701G>A (p.Trp234Ter)	rs781004589
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)	rs1050220787
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys)	rs281875313

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