List of variants reported as pathogenic for Cystic leukoencephalopathy without megalencephaly by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003730.6(RNASET2):c.262-2A>G	rs2128645761	0.00001
NM_003730.6(RNASET2):c.332+1del	rs2128645753
NM_003730.6(RNASET2):c.50_64del (p.Ala17_Leu21del)	rs1583242286
NM_003730.6(RNASET2):c.550T>C (p.Cys184Arg)	rs121918137
NM_003730.6(RNASET2):c.567G>A (p.Gln189=)	rs1191342507
NM_003730.6(RNASET2):c.87-1341_147+1181del

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