ClinVar Miner

List of variants studied for Vanishing white matter disease by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001414.4(EIF2B1):c.429G>A (p.Ala143=) rs148714712 0.00079
NM_003907.3(EIF2B5):c.1870-5C>A rs144864475 0.00077
NM_020365.5(EIF2B3):c.464G>A (p.Arg155His) rs147773599 0.00043
NM_001414.4(EIF2B1):c.176T>C (p.Val59Ala) rs199544322 0.00011
NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp) rs113994068 0.00005
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp) rs138249238 0.00004
NM_003907.3(EIF2B5):c.170T>C (p.Phe57Ser) rs758129111 0.00004
NM_003907.3(EIF2B5):c.241G>A (p.Glu81Lys) rs113994047 0.00004
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala) rs28939717 0.00004
NM_020365.5(EIF2B3):c.272G>A (p.Arg91His) rs141988913 0.00004
NM_001034116.2(EIF2B4):c.724A>G (p.Thr242Ala) rs151290164 0.00001
NM_003907.3(EIF2B5):c.1153A>G (p.Ile385Val) rs113994073 0.00001
NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr) rs1064794256 0.00001
NM_014239.4(EIF2B2):c.672C>T (p.Ala224=) rs528714025 0.00001
NM_003907.3(EIF2B5):c.1712G>T (p.Cys571Phe) rs375421867

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.