List of variants studied for leukoencephalopathy, megalencephalic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)	rs121908345	0.00006
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu)	rs281875309	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.278C>T (p.Ser93Leu)	rs80358245	0.00001
NM_152722.5(HEPACAM):c.523A>T (p.Lys175Ter)	rs752637604	0.00001
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)	rs80358242
NM_015166.4(MLC1):c.255T>G (p.Cys85Trp)	rs2146932748
NM_015166.4(MLC1):c.299_423+108del	rs1602049346
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)	rs281875317
NM_015166.4(MLC1):c.634G>C (p.Gly212Arg)	rs281875317
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)	rs1050220787
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys)	rs281875313

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.