ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_003907.3(EIF2B5):c.1870-5C>A rs144864475 0.00084
NM_001414.4(EIF2B1):c.429G>A (p.Ala143=) rs148714712 0.00079
NM_020365.5(EIF2B3):c.464G>A (p.Arg155His) rs147773599 0.00043
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00029
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_001414.4(EIF2B1):c.176T>C (p.Val59Ala) rs199544322 0.00011
NM_020365.5(EIF2B3):c.272G>A (p.Arg91His) rs141988913 0.00006
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_003907.3(EIF2B5):c.944G>A (p.Arg315His) rs113994064 0.00003
NM_003907.3(EIF2B5):c.1153A>G (p.Ile385Val) rs113994073 0.00002
NM_001034116.2(EIF2B4):c.724A>G (p.Thr242Ala) rs151290164 0.00001
NM_014239.4(EIF2B2):c.672C>T (p.Ala224=) rs528714025 0.00001
NM_003907.3(EIF2B5):c.1712G>T (p.Cys571Phe) rs375421867
NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr) rs1064794256

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