List of variants in gene combination LOC125446261, MLC1 reported as likely pathogenic for Megalencephalic leukoencephalopathy with subcortical cysts 1

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_015166.4(MLC1):c.178-10T>A	rs80358243	0.00001
NM_015166.4(MLC1):c.240G>A (p.Met80Ile)	rs281875310	0.00001
NM_015166.4(MLC1):c.249G>T (p.Leu83Phe)	rs1289520784	0.00001
NM_015166.4(MLC1):c.251G>A (p.Arg84His)	rs1425784992	0.00001
NM_015166.4(MLC1):c.178-2A>G	rs2518359086
NM_015166.4(MLC1):c.250C>T (p.Arg84Cys)	rs281875311
NM_015166.4(MLC1):c.254G>A (p.Cys85Tyr)	rs2518358218
NM_015166.4(MLC1):c.255T>G (p.Cys85Trp)	rs2146932748
NM_015166.4(MLC1):c.263G>T (p.Gly88Val)	rs2062186534

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