ClinVar Miner

List of variants reported as pathogenic for Vanishing white matter disease

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00027
NM_020365.5(EIF2B3):c.260C>T (p.Ala87Val) rs113994022 0.00011
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly) rs104894425 0.00007
NM_001414.4(EIF2B1):c.252+1G>A rs113994006 0.00006
NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp) rs113994068 0.00005
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys) rs758746181 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.943C>T (p.Arg315Cys) rs113994063 0.00003
NM_014239.4(EIF2B2):c.254T>A (p.Val85Glu) rs397514648 0.00003
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln) rs113994028 0.00002
NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe) rs113994048 0.00002
NM_003907.3(EIF2B5):c.944G>A (p.Arg315His) rs113994064 0.00002
NM_001034116.2(EIF2B4):c.1465T>C (p.Tyr489His) rs113994040 0.00001
NM_001034116.2(EIF2B4):c.728C>T (p.Pro243Leu) rs113994030 0.00001
NM_001414.4(EIF2B1):c.622A>T (p.Asn208Tyr) rs113994007 0.00001
NM_003907.3(EIF2B5):c.1208C>T (p.Ala403Val) rs545593935 0.00001
NM_003907.3(EIF2B5):c.1280C>T (p.Pro427Leu) rs113994078 0.00001
NM_003907.3(EIF2B5):c.1360C>T (p.Pro454Ser) rs766921114 0.00001
NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr) rs1064794256 0.00001
NM_003907.3(EIF2B5):c.584G>A (p.Arg195His) rs113994054 0.00001
NM_003907.3(EIF2B5):c.889G>A (p.Gly297Ser) rs962701773 0.00001
NM_003907.3(EIF2B5):c.896G>A (p.Arg299His) rs113994060 0.00001
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu) rs200143780 0.00001
NM_014239.4(EIF2B2):c.818A>G (p.Lys273Arg) rs113994016 0.00001
NM_014239.4(EIF2B2):c.922G>A (p.Val308Met) rs372548739 0.00001
NM_001034116.2(EIF2B4):c.731C>T (p.Pro244Leu)
NM_001414.4(EIF2B1):c.328A>G (p.Lys110Glu) rs863225050
NM_001414.4(EIF2B1):c.547G>T (p.Val183Phe) rs863225048
NM_001414.4(EIF2B1):c.610GGA[1] (p.Gly205del) rs863225051
NM_001414.4(EIF2B1):c.715T>G (p.Phe239Val) rs863225052
NM_001414.4(EIF2B1):c.770_771del (p.Leu257fs) rs746435041
NM_001414.4(EIF2B1):c.833C>G (p.Pro278Arg) rs863225049
NM_003907.3(EIF2B5):c.1016G>C (p.Arg339Pro) rs113994069
NM_003907.3(EIF2B5):c.1264C>T (p.Arg422Ter) rs113994076
NM_003907.3(EIF2B5):c.1340C>T (p.Ser447Leu) rs113994080
NM_003907.3(EIF2B5):c.1485C>G (p.Tyr495Ter) rs753507995
NM_003907.3(EIF2B5):c.1694delinsTTTCTTGTGCATCTCCACTACAGAGGAGCGGGGCATCTCCACTAC (p.Lys565fs) rs2473670814
NM_003907.3(EIF2B5):c.1930G>T (p.Glu644Ter) rs2473672855
NM_003907.3(EIF2B5):c.2009T>C (p.Phe670Ser) rs1713781736
NM_003907.3(EIF2B5):c.407G>A (p.Arg136His) rs958193703
NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln) rs113994057
NM_014239.4(EIF2B2):c.42del (p.Ile15fs) rs1889561523
NM_014239.4(EIF2B2):c.570del (p.Ile190fs) rs755436800
NM_014239.4(EIF2B2):c.607_612delinsTG (p.Met203fs) rs113994014
NM_014239.4(EIF2B2):c.871C>T (p.Pro291Ser) rs113994017
NM_014239.4(EIF2B2):c.877dup (p.Glu293fs)
NM_014239.4(EIF2B2):c.94G>T (p.Glu32Ter) rs957633719
NM_020365.5(EIF2B3):c.1037T>C (p.Ile346Thr) rs119474039
NM_020365.5(EIF2B3):c.674G>C (p.Arg225Pro) rs113994024

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