ClinVar Miner

List of variants reported as uncertain significance for leukoencephalopathy with vanishing white matter 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 212
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HGVS dbSNP gnomAD frequency
NM_003907.2(EIF2B5):c.-103C>G rs146922950 0.01823
NM_020365.5(EIF2B3):c.-26C>G rs112398574 0.00261
NM_001414.4(EIF2B1):c.*422C>T rs529880752 0.00153
NM_020365.5(EIF2B3):c.983A>G (p.Lys328Arg) rs138741202 0.00146
NM_014239.4(EIF2B2):c.*169C>T rs566966733 0.00132
NM_014239.4(EIF2B2):c.380C>T (p.Ala127Val) rs150617429 0.00127
NM_001414.4(EIF2B1):c.14-13T>C rs200969641 0.00116
NM_003907.2(EIF2B5):c.-153T>G rs187117854 0.00104
NM_020365.5(EIF2B3):c.591G>A (p.Thr197=) rs188705026 0.00098
NM_003907.3(EIF2B5):c.1870-5C>A rs144864475 0.00084
NM_014239.4(EIF2B2):c.*388C>T rs141381011 0.00079
NM_001414.4(EIF2B1):c.*506C>T rs572343813 0.00068
NM_001414.3(EIF2B1):c.-135G>C rs760509266 0.00067
NM_014239.4(EIF2B2):c.*48A>C rs199523469 0.00064
NM_003907.3(EIF2B5):c.362G>A (p.Arg121Gln) rs144443995 0.00059
NM_003907.3(EIF2B5):c.1956C>T (p.Phe652=) rs149264256 0.00056
NM_003907.3(EIF2B5):c.299C>T (p.Ala100Val) rs150531914 0.00048
NM_001034116.2(EIF2B4):c.1191+13G>A rs140046653 0.00043
NM_020365.5(EIF2B3):c.464G>A (p.Arg155His) rs147773599 0.00043
NM_001034116.2(EIF2B4):c.*39C>T rs367568951 0.00042
NM_014239.4(EIF2B2):c.-60A>G rs200557826 0.00034
NM_001034116.2(EIF2B4):c.1383T>C (p.Asp461=) rs141403112 0.00029
NM_020365.5(EIF2B3):c.442A>G (p.Lys148Glu) rs151056457 0.00024
NM_001034116.2(EIF2B4):c.398_406del (p.Thr133_Glu136delinsLys) rs769575268 0.00021
NM_015636.3(EIF2B4):c.-116G>C rs761436350 0.00021
NM_001034116.2(EIF2B4):c.372A>G (p.Gly124=) rs141872864 0.00019
NM_001414.4(EIF2B1):c.252+13T>C rs200139223 0.00019
NM_020365.5(EIF2B3):c.71C>T (p.Pro24Leu) rs151320540 0.00017
NM_001034116.2(EIF2B4):c.428G>A (p.Arg143His) rs368243788 0.00014
NM_003907.3(EIF2B5):c.1913G>A (p.Arg638His) rs138772928 0.00014
NM_003907.3(EIF2B5):c.2107-15T>C rs747475323 0.00014
NM_020365.5(EIF2B3):c.134G>A (p.Arg45His) rs139445917 0.00014
NM_020365.5(EIF2B3):c.44G>A (p.Arg15Gln) rs200409938 0.00013
NM_003907.3(EIF2B5):c.134C>G (p.Ala45Gly) rs199637444 0.00012
NM_003907.3(EIF2B5):c.1265G>A (p.Arg422Gln) rs372497906 0.00011
NM_020365.5(EIF2B3):c.*266C>T rs942276440 0.00011
NM_001034116.2(EIF2B4):c.961C>T (p.Arg321Cys) rs200954953 0.00010
NM_014239.4(EIF2B2):c.999T>A (p.Pro333=) rs147596765 0.00010
NM_001034116.2(EIF2B4):c.335G>A (p.Arg112Gln) rs774864445 0.00009
NM_003907.3(EIF2B5):c.*90T>C rs925012204 0.00009
NM_001414.4(EIF2B1):c.7G>T (p.Asp3Tyr) rs185814675 0.00008
NM_014239.4(EIF2B2):c.119G>C (p.Gly40Ala) rs139325888 0.00008
NM_014239.4(EIF2B2):c.96G>A (p.Glu32=) rs146228503 0.00008
NM_014239.4(EIF2B2):c.570T>G (p.Ile190Met) rs749806505 0.00007
NM_001034116.2(EIF2B4):c.812C>T (p.Ala271Val) rs182331835 0.00006
NM_001414.4(EIF2B1):c.*332A>G rs550354713 0.00006
NM_001414.4(EIF2B1):c.252+1G>A rs113994006 0.00006
NM_001414.4(EIF2B1):c.389A>G (p.Tyr130Cys) rs754044114 0.00006
NM_001414.4(EIF2B1):c.868G>A (p.Val290Met) rs753984869 0.00006
NM_003907.3(EIF2B5):c.858G>C (p.Gln286His) rs374608159 0.00006
NM_020365.5(EIF2B3):c.*55C>T rs1010809766 0.00006
NM_020365.5(EIF2B3):c.785-6C>G rs775634835 0.00006
NM_020365.5(EIF2B3):c.833A>G (p.Tyr278Cys) rs199893632 0.00006
NM_001034116.2(EIF2B4):c.311G>A (p.Arg104His) rs753288781 0.00005
NM_003907.2(EIF2B5):c.-150G>C rs886058212 0.00005
NM_003907.3(EIF2B5):c.182A>G (p.Lys61Arg) rs550470093 0.00005
NM_014239.4(EIF2B2):c.-56T>C rs201368910 0.00005
NM_020365.5(EIF2B3):c.634G>A (p.Val212Met) rs373839928 0.00005
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp) rs138249238 0.00004
NM_003907.3(EIF2B5):c.1325C>T (p.Thr442Met) rs777685963 0.00004
NM_003907.3(EIF2B5):c.170T>C (p.Phe57Ser) rs758129111 0.00004
NM_003907.3(EIF2B5):c.453G>A (p.Val151=) rs376258328 0.00004
NM_014239.4(EIF2B2):c.433+15C>T rs766487534 0.00004
NM_014239.4(EIF2B2):c.946G>A (p.Val316Ile) rs761055346 0.00004
NM_001034116.2(EIF2B4):c.239C>T (p.Ser80Leu) rs763729559 0.00003
NM_001414.4(EIF2B1):c.543T>C (p.Ala181=) rs758794919 0.00003
NM_003907.3(EIF2B5):c.1621C>T (p.Arg541Trp) rs753878206 0.00003
NM_003907.3(EIF2B5):c.1914C>T (p.Arg638=) rs751446315 0.00003
NM_020365.4(EIF2B3):c.-172C>T rs1327166192 0.00003
NM_020365.5(EIF2B3):c.864C>G (p.Asp288Glu) rs3738247 0.00003
NM_001034116.2(EIF2B4):c.1070G>A (p.Arg357Gln) rs113994033 0.00002
NM_001034116.2(EIF2B4):c.1400G>A (p.Arg467Gln) rs751555693 0.00002
NM_001034116.2(EIF2B4):c.295G>A (p.Glu99Lys) rs758233858 0.00002
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln) rs113994028 0.00002
NM_001414.4(EIF2B1):c.*640T>C rs886049049 0.00002
NM_001414.4(EIF2B1):c.482+3A>G rs775140578 0.00002
NM_003907.2(EIF2B5):c.-155T>C rs369493689 0.00002
NM_003907.3(EIF2B5):c.1153A>G (p.Ile385Val) rs113994073 0.00002
NM_003907.3(EIF2B5):c.1209G>A (p.Ala403=) rs143448763 0.00002
NM_003907.3(EIF2B5):c.1451A>G (p.Asn484Ser) rs760027991 0.00002
NM_003907.3(EIF2B5):c.1529T>G (p.Leu510Arg) rs777760880 0.00002
NM_003907.3(EIF2B5):c.2107-14C>T rs1687210 0.00002
NM_003907.3(EIF2B5):c.662T>C (p.Leu221Pro) rs747875505 0.00002
NM_003907.3(EIF2B5):c.900C>T (p.Val300=) rs778914998 0.00002
NM_020365.5(EIF2B3):c.1130C>T (p.Ser377Leu) rs774696817 0.00002
NM_020365.5(EIF2B3):c.1277T>C (p.Ile426Thr) rs762959486 0.00002
NM_001034116.2(EIF2B4):c.1129G>C (p.Val377Leu) rs745579285 0.00001
NM_001034116.2(EIF2B4):c.1505C>T (p.Thr502Met) rs749942048 0.00001
NM_001034116.2(EIF2B4):c.219A>C (p.Pro73=) rs750413412 0.00001
NM_001034116.2(EIF2B4):c.491G>A (p.Arg164His) rs770591078 0.00001
NM_001034116.2(EIF2B4):c.61C>T (p.Pro21Ser) rs754958652 0.00001
NM_001034116.2(EIF2B4):c.724A>G (p.Thr242Ala) rs151290164 0.00001
NM_001414.4(EIF2B1):c.*508A>T rs961054040 0.00001
NM_001414.4(EIF2B1):c.-91C>G rs886049052 0.00001
NM_001414.4(EIF2B1):c.370-10C>T rs768380909 0.00001
NM_001414.4(EIF2B1):c.615A>C (p.Gly205=) rs769409433 0.00001
NM_003907.3(EIF2B5):c.*136C>T rs1170507748 0.00001
NM_003907.3(EIF2B5):c.*192G>A rs886058216 0.00001
NM_003907.3(EIF2B5):c.1056T>C (p.His352=) rs143156459 0.00001
NM_003907.3(EIF2B5):c.115C>G (p.Pro39Ala) rs886058213 0.00001
NM_003907.3(EIF2B5):c.1722C>T (p.Leu574=) rs775332719 0.00001
NM_003907.3(EIF2B5):c.1723G>A (p.Val575Ile) rs760592628 0.00001
NM_003907.3(EIF2B5):c.1880C>T (p.Ala627Val) rs374115857 0.00001
NM_003907.3(EIF2B5):c.2002A>G (p.Met668Val) rs201280946 0.00001
NM_003907.3(EIF2B5):c.2107-12G>A rs1368238343 0.00001
NM_003907.3(EIF2B5):c.216T>C (p.Asn72=) rs886058214 0.00001
NM_003907.3(EIF2B5):c.349C>G (p.Leu117Val) rs1365253275 0.00001
NM_003907.3(EIF2B5):c.465C>T (p.Val155=) rs771810132 0.00001
NM_003907.3(EIF2B5):c.546G>A (p.Thr182=) rs1330413908 0.00001
NM_003907.3(EIF2B5):c.684+3G>A rs757609129 0.00001
NM_014239.4(EIF2B2):c.159C>G (p.Asn53Lys) rs773826562 0.00001
NM_014239.4(EIF2B2):c.229A>G (p.Thr77Ala) rs1889569694 0.00001
NM_014239.4(EIF2B2):c.462G>A (p.Gln154=) rs766102981 0.00001
NM_014239.4(EIF2B2):c.708G>A (p.Thr236=) rs747522516 0.00001
NM_014239.4(EIF2B2):c.899-13G>A rs756121992 0.00001
NM_015636.3(EIF2B4):c.-43G>A rs1201072196 0.00001
NM_015636.3(EIF2B4):c.-90G>T rs1473159573 0.00001
NM_020365.5(EIF2B3):c.1208A>G (p.Asn403Ser) rs770622953 0.00001
NM_020365.5(EIF2B3):c.1274T>G (p.Leu425Trp) rs1289184955 0.00001
NM_020365.5(EIF2B3):c.1287C>T (p.Gly429=) rs886046358 0.00001
NM_020365.5(EIF2B3):c.130G>A (p.Glu44Lys) rs201162647 0.00001
NM_020365.5(EIF2B3):c.1319A>G (p.Asn440Ser) rs367765945 0.00001
NM_020365.5(EIF2B3):c.277A>G (p.Ile93Val) rs1292740512 0.00001
NM_020365.5(EIF2B3):c.430G>A (p.Gly144Ser) rs781640168 0.00001
NM_020365.5(EIF2B3):c.89T>C (p.Val30Ala) rs752636698 0.00001
NM_001034116.2(EIF2B4):c.-2C>T rs1168127254
NM_001034116.2(EIF2B4):c.10G>C (p.Val4Leu)
NM_001034116.2(EIF2B4):c.1136C>T (p.Ala379Val) rs886055901
NM_001034116.2(EIF2B4):c.1291A>G (p.Asn431Asp)
NM_001034116.2(EIF2B4):c.1310G>T (p.Cys437Phe) rs886055900
NM_001034116.2(EIF2B4):c.1373-4G>A rs886055899
NM_001034116.2(EIF2B4):c.138GAA[2] (p.Lys49del) rs772427644
NM_001034116.2(EIF2B4):c.1488T>C (p.Leu496=) rs1681690750
NM_001034116.2(EIF2B4):c.158A>G (p.Glu53Gly) rs886055904
NM_001034116.2(EIF2B4):c.211+11G>A rs1682164603
NM_001034116.2(EIF2B4):c.32-55C>T rs1682257634
NM_001034116.2(EIF2B4):c.342G>C (p.Leu114=) rs886055903
NM_001034116.2(EIF2B4):c.360G>A (p.Gly120=) rs773154770
NM_001034116.2(EIF2B4):c.515A>C (p.Asp172Ala) rs886055902
NM_001034116.2(EIF2B4):c.69G>T (p.Gly23=) rs559997020
NM_001034116.2(EIF2B4):c.866G>A (p.Ser289Asn) rs1681946262
NM_001034116.2(EIF2B4):c.90A>C (p.Glu30Asp) rs1682186320
NM_001034116.2(EIF2B4):c.95C>A (p.Thr32Asn) rs886055905
NM_001414.3(EIF2B1):c.-146A>C rs535812755
NM_001414.3(EIF2B1):c.-150C>T rs886049053
NM_001414.3(EIF2B1):c.-183C>G rs558453538
NM_001414.3(EIF2B1):c.-193G>T rs576953141
NM_001414.3(EIF2B1):c.-208G>A rs778832726
NM_001414.4(EIF2B1):c.*149C>G rs748141757
NM_001414.4(EIF2B1):c.*219C>T rs1034405666
NM_001414.4(EIF2B1):c.*425G>C rs886049050
NM_001414.4(EIF2B1):c.*529G>A rs1955091552
NM_001414.4(EIF2B1):c.-70C>T rs886049051
NM_001414.4(EIF2B1):c.-91C>T rs886049052
NM_001414.4(EIF2B1):c.13G>A (p.Glu5Lys)
NM_001414.4(EIF2B1):c.385G>A (p.Ala129Thr)
NM_001414.4(EIF2B1):c.392C>T (p.Ser131Phe)
NM_001414.4(EIF2B1):c.468G>A (p.Gln156=) rs767525555
NM_001414.4(EIF2B1):c.502C>G (p.Leu168Val)
NM_001414.4(EIF2B1):c.524T>A (p.Val175Asp) rs1955149380
NM_001414.4(EIF2B1):c.627G>C (p.Lys209Asn) rs1955135731
NM_001414.4(EIF2B1):c.671A>G (p.Lys224Arg) rs1195828766
NM_001414.4(EIF2B1):c.752A>G (p.Lys251Arg)
NM_001414.4(EIF2B1):c.875C>G (p.Thr292Arg)
NM_001414.4(EIF2B1):c.915_916del (p.Ter306ThrextTer?)
NM_003907.2(EIF2B5):c.-117C>T rs182550783
NM_003907.2(EIF2B5):c.-203C>A rs886058211
NM_003907.3(EIF2B5):c.*253T>C rs1577037067
NM_003907.3(EIF2B5):c.1159G>C (p.Asp387His) rs886058215
NM_003907.3(EIF2B5):c.1268T>C (p.Val423Ala) rs1560109172
NM_003907.3(EIF2B5):c.1592A>G (p.Gln531Arg) rs773019420
NM_003907.3(EIF2B5):c.1709C>T (p.Ser570Phe) rs770581569
NM_003907.3(EIF2B5):c.1712G>T (p.Cys571Phe) rs375421867
NM_003907.3(EIF2B5):c.1832C>T (p.Pro611Leu)
NM_003907.3(EIF2B5):c.185A>T (p.Asp62Val)
NM_003907.3(EIF2B5):c.1937T>C (p.Leu646Ser)
NM_003907.3(EIF2B5):c.2065G>A (p.Asp689Asn)
NM_003907.3(EIF2B5):c.2090del (p.Leu697fs) rs2109012241
NM_003907.3(EIF2B5):c.2093G>A (p.Arg698His)
NM_003907.3(EIF2B5):c.385C>G (p.Arg129Gly) rs1419673400
NM_003907.3(EIF2B5):c.506+6G>C rs1478315356
NM_003907.3(EIF2B5):c.514C>T (p.Arg172Trp)
NM_003907.3(EIF2B5):c.613G>A (p.Val205Met) rs1057520047
NM_003907.3(EIF2B5):c.633G>C (p.Arg211Ser)
NM_003907.3(EIF2B5):c.655C>G (p.Gln219Glu)
NM_003907.3(EIF2B5):c.667C>T (p.Arg223Cys)
NM_003907.3(EIF2B5):c.920C>T (p.Ser307Leu) rs2109008971
NM_003907.3(EIF2B5):c.955T>C (p.Tyr319His)
NM_004840.3(ARHGEF6):c.2080G>A (p.Glu694Lys) rs2076230593
NM_014239.4(EIF2B2):c.*241C>T rs1046595426
NM_014239.4(EIF2B2):c.*283T>C rs1889675084
NM_014239.4(EIF2B2):c.-30C>G rs746984359
NM_014239.4(EIF2B2):c.1045_1047del (p.His349del) rs759031496
NM_014239.4(EIF2B2):c.1A>G (p.Met1Val)
NM_014239.4(EIF2B2):c.271G>C (p.Glu91Gln) rs886050765
NM_014239.4(EIF2B2):c.498G>A (p.Met166Ile) rs139680549
NM_014239.4(EIF2B2):c.514C>T (p.Arg172Ter) rs758398310
NM_014239.4(EIF2B2):c.570del (p.Ile190fs) rs755436800
NM_014239.4(EIF2B2):c.890del (p.Phe297fs) rs773041356
NM_020365.4(EIF2B3):c.-155A>C rs1644582170
NM_020365.4(EIF2B3):c.-172C>G rs1327166192
NM_020365.5(EIF2B3):c.*201C>G rs528195798
NM_020365.5(EIF2B3):c.*282G>A rs991449922
NM_020365.5(EIF2B3):c.-56G>A rs886046362
NM_020365.5(EIF2B3):c.1141A>G (p.Ile381Val) rs773530595
NM_020365.5(EIF2B3):c.1201G>A (p.Gly401Arg) rs886046359
NM_020365.5(EIF2B3):c.15A>C (p.Ala5=) rs1644509006
NM_020365.5(EIF2B3):c.189A>G (p.Leu63=) rs142753066
NM_020365.5(EIF2B3):c.388A>G (p.Met130Val) rs886046361
NM_020365.5(EIF2B3):c.706C>G (p.Gln236Glu) rs1557668795
NM_020365.5(EIF2B3):c.743A>G (p.Glu248Gly) rs886046360
NM_020365.5(EIF2B3):c.97A>G (p.Lys33Glu) rs1557716669

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