List of variants in gene combination LOC125446261, MLC1 studied for Megalencephalic leukoencephalopathy with subcortical cysts

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_015166.4(MLC1):c.216G>A (p.Leu72=)	rs78365284	0.00468
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu)	rs281875309	0.00001
NM_015166.4(MLC1):c.222C>T (p.Asn74=)	rs759148867	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.198G>A (p.Ser66=)	rs199991229
NM_015166.4(MLC1):c.250C>T (p.Arg84Cys)	rs281875311
NM_015166.4(MLC1):c.255T>G (p.Cys85Trp)	rs2146932748

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