ClinVar Miner

List of variants reported as uncertain significance for Ataxia-telangiectasia-like disorder 1

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ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_005591.4(MRE11):c.1783+5G>C rs142082313 0.00284
NM_005591.4(MRE11):c.*848A>G rs13447750 0.00154
NM_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_005591.4(MRE11):c.*660C>T rs591959 0.00136
NM_005591.3(MRE11):c.-174T>C rs36225299 0.00126
NM_005591.4(MRE11):c.*973A>G rs960070711 0.00116
NM_005591.4(MRE11):c.426C>T (p.Asp142=) rs3218740 0.00109
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln) rs145415033 0.00103
NM_005591.4(MRE11):c.120C>T (p.Leu40=) rs1805364 0.00066
NM_005591.4(MRE11):c.*2178A>C rs886048749 0.00061
NM_005591.4(MRE11):c.*2531A>T rs182128639 0.00051
NM_005591.4(MRE11):c.*974C>G rs757790109 0.00047
NM_005591.4(MRE11):c.*658T>C rs11020777 0.00042
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) rs139461096 0.00038
NM_005591.4(MRE11):c.*2703A>G rs766297244 0.00034
NM_005591.4(MRE11):c.-95A>G rs191426010 0.00034
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016 0.00032
NM_005591.4(MRE11):c.1286T>C (p.Val429Ala) rs141293060 0.00023
NM_005591.4(MRE11):c.*671C>T rs538218500 0.00021
NM_005591.4(MRE11):c.1491C>T (p.Ile497=) rs199634245 0.00021
NM_005591.4(MRE11):c.*429A>G rs758803920 0.00019
NM_005591.4(MRE11):c.1667A>G (p.Asn556Ser) rs144896235 0.00018
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr) rs373522639 0.00016
NM_005591.4(MRE11):c.1726C>G (p.Arg576Gly) rs774277300 0.00016
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys) rs186333183 0.00015
NM_005591.4(MRE11):c.1334A>G (p.Gln445Arg) rs371730091 0.00014
NM_005591.4(MRE11):c.*2258G>C rs886048748 0.00011
NM_005591.4(MRE11):c.311G>C (p.Ser104Thr) rs587780140 0.00011
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr) rs142996063 0.00010
NM_005591.4(MRE11):c.*1366G>A rs146641719 0.00009
NM_005591.4(MRE11):c.*1900C>T rs1002764139 0.00009
NM_005591.4(MRE11):c.*193T>C rs1005817752 0.00009
NM_005591.4(MRE11):c.*656T>C rs104895009 0.00009
NM_005591.4(MRE11):c.1736G>A (p.Gly579Glu) rs757916109 0.00009
NM_005591.4(MRE11):c.818C>G (p.Ser273Cys) rs143400546 0.00009
NM_005591.4(MRE11):c.913C>T (p.Arg305Trp) rs372000848 0.00008
NM_005591.4(MRE11):c.-42G>A rs199805088 0.00007
NM_005591.4(MRE11):c.482A>G (p.Lys161Arg) rs587782294 0.00007
NM_005591.4(MRE11):c.*1554C>G rs886048751 0.00006
NM_005591.4(MRE11):c.*570A>C rs397509346 0.00006
NM_005591.4(MRE11):c.*672G>A rs199653893 0.00006
NM_005591.4(MRE11):c.1462C>T (p.Arg488Cys) rs375261439 0.00006
NM_005591.4(MRE11):c.1463G>A (p.Arg488His) rs145377856 0.00006
NM_005591.4(MRE11):c.1858A>G (p.Ile620Val) rs144070976 0.00006
NM_005591.4(MRE11):c.274G>A (p.Glu92Lys) rs587780139 0.00006
NM_005591.4(MRE11):c.358A>G (p.Ile120Val) rs372131911 0.00006
NM_005591.4(MRE11):c.391G>A (p.Asp131Asn) rs368403414 0.00006
NM_005591.4(MRE11):c.469A>G (p.Met157Val) rs147771140 0.00006
NM_005591.4(MRE11):c.777G>A (p.Gln259=) rs774144789 0.00006
NM_005591.4(MRE11):c.-106+8C>T rs886048761 0.00005
NM_005591.4(MRE11):c.1852A>G (p.Met618Val) rs375630981 0.00005
NM_005591.4(MRE11):c.*1082T>C rs1356639226 0.00004
NM_005591.4(MRE11):c.*2296A>G rs886048747 0.00004
NM_005591.4(MRE11):c.*593A>C rs909793927 0.00004
NM_005591.4(MRE11):c.1783+7A>G rs774520952 0.00004
NM_005591.4(MRE11):c.1883G>A (p.Arg628Lys) rs587781835 0.00004
NM_005591.4(MRE11):c.485T>C (p.Ile162Thr) rs150656288 0.00004
NM_005591.4(MRE11):c.848A>G (p.His283Arg) rs142727857 0.00004
NM_005591.4(MRE11):c.940C>T (p.Leu314=) rs368362407 0.00004
NM_005591.4(MRE11):c.*2320T>C rs886048746 0.00003
NM_005591.4(MRE11):c.*2452C>T rs574670712 0.00003
NM_005591.4(MRE11):c.*740G>A rs1255215800 0.00003
NM_005591.4(MRE11):c.*741A>G rs886048754 0.00003
NM_005591.4(MRE11):c.1091G>T (p.Arg364Leu) rs140528613 0.00003
NM_005591.4(MRE11):c.1507C>T (p.Arg503Cys) rs761458720 0.00003
NM_005591.4(MRE11):c.1508G>A (p.Arg503His) rs774057024 0.00003
NM_005591.4(MRE11):c.18A>T (p.Ala6=) rs758314845 0.00003
NM_005591.4(MRE11):c.476T>C (p.Val159Ala) rs140130291 0.00003
NM_005591.4(MRE11):c.640T>C (p.Phe214Leu) rs750929369 0.00003
NM_005591.4(MRE11):c.73T>C (p.Phe25Leu) rs145218439 0.00003
NM_005591.4(MRE11):c.1051C>T (p.Arg351Cys) rs757492041 0.00002
NM_005591.4(MRE11):c.1139G>A (p.Arg380His) rs587781646 0.00002
NM_005591.4(MRE11):c.1145G>C (p.Ser382Thr) rs745769023 0.00002
NM_005591.4(MRE11):c.1163G>A (p.Arg388Gln) rs587780134 0.00002
NM_005591.4(MRE11):c.1190A>C (p.His397Pro) rs372657126 0.00002
NM_005591.4(MRE11):c.1233G>A (p.Glu411=) rs748756180 0.00002
NM_005591.4(MRE11):c.1253T>A (p.Ile418Asn) rs769500356 0.00002
NM_005591.4(MRE11):c.1404T>C (p.Asp468=) rs368144567 0.00002
NM_005591.4(MRE11):c.1574G>A (p.Arg525Lys) rs773275841 0.00002
NM_005591.4(MRE11):c.1753G>A (p.Ala585Thr) rs754790440 0.00002
NM_005591.4(MRE11):c.1758G>A (p.Ser586=) rs766372720 0.00002
NM_005591.4(MRE11):c.2042C>T (p.Ser681Leu) rs587782166 0.00002
NM_005591.4(MRE11):c.2099C>G (p.Thr700Ser) rs374685908 0.00002
NM_005591.4(MRE11):c.256G>A (p.Asp86Asn) rs763902512 0.00002
NM_005591.4(MRE11):c.259C>T (p.Arg87Trp) rs758112386 0.00002
NM_005591.4(MRE11):c.545-13A>G rs370306271 0.00002
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00002
NM_005591.4(MRE11):c.*1174C>T rs1406518680 0.00001
NM_005591.4(MRE11):c.*1304A>T rs562083257 0.00001
NM_005591.4(MRE11):c.*1704G>A rs986503335 0.00001
NM_005591.4(MRE11):c.1045C>T (p.Arg349Trp) rs570102851 0.00001
NM_005591.4(MRE11):c.1046G>A (p.Arg349Gln) rs864622683 0.00001
NM_005591.4(MRE11):c.106A>G (p.Thr36Ala) rs774330292 0.00001
NM_005591.4(MRE11):c.1074A>G (p.Pro358=) rs876659934 0.00001
NM_005591.4(MRE11):c.1097G>A (p.Arg366Gln) rs773968042 0.00001
NM_005591.4(MRE11):c.1225+10T>G rs863224734 0.00001
NM_005591.4(MRE11):c.1238A>G (p.Asn413Ser) rs587782457 0.00001
NM_005591.4(MRE11):c.1275A>C (p.Thr425=) rs749712745 0.00001
NM_005591.4(MRE11):c.1418T>C (p.Leu473Ser) rs771843497 0.00001
NM_005591.4(MRE11):c.1456A>G (p.Lys486Glu) rs767896176 0.00001
NM_005591.4(MRE11):c.1478T>G (p.Leu493Arg) rs786203158 0.00001
NM_005591.4(MRE11):c.1499A>T (p.Glu500Val) rs786203159 0.00001
NM_005591.4(MRE11):c.1699A>G (p.Asn567Asp) rs778585671 0.00001
NM_005591.4(MRE11):c.1783+10G>C rs864622589 0.00001
NM_005591.4(MRE11):c.1800G>T (p.Glu600Asp) rs1028566396 0.00001
NM_005591.4(MRE11):c.1853T>G (p.Met618Arg) rs748933763 0.00001
NM_005591.4(MRE11):c.20+8C>A rs766581183 0.00001
NM_005591.4(MRE11):c.2124A>G (p.Arg708=) rs138017560 0.00001
NM_005591.4(MRE11):c.218A>G (p.His73Arg) rs769313864 0.00001
NM_005591.4(MRE11):c.244T>C (p.Tyr82His) rs587781343 0.00001
NM_005591.4(MRE11):c.250A>G (p.Met84Val) rs786203222 0.00001
NM_005591.4(MRE11):c.394C>T (p.Pro132Ser) rs777373591 0.00001
NM_005591.4(MRE11):c.463C>T (p.Arg155Cys) rs587782512 0.00001
NM_005591.4(MRE11):c.497C>T (p.Pro166Leu) rs587782308 0.00001
NM_005591.4(MRE11):c.544G>A (p.Gly182Arg) rs1446077946 0.00001
NM_005591.4(MRE11):c.671G>A (p.Gly224Glu) rs749446968 0.00001
NM_005591.4(MRE11):c.689C>T (p.Pro230Leu) rs185439615 0.00001
NM_005591.4(MRE11):c.880A>G (p.Met294Val) rs786202636 0.00001
NM_005591.4(MRE11):c.895A>T (p.Ile299Phe) rs587782169 0.00001
NM_005591.4(MRE11):c.946A>G (p.Asn316Asp) rs767684060 0.00001
NM_005591.4(MRE11):c.981A>G (p.Lys327=) rs587782569 0.00001
NC_000011.10:g.(?_94420119)_(94437241_?)del
NM_005591.4(MRE11):c.*1086A>G rs886048752
NM_005591.4(MRE11):c.*1661A>C rs539061083
NM_005591.4(MRE11):c.*1776C>T rs104895005
NM_005591.4(MRE11):c.*1933G>T rs104895004
NM_005591.4(MRE11):c.*2106T>C rs886048750
NM_005591.4(MRE11):c.*2170A>T rs908126331
NM_005591.4(MRE11):c.*2324G>T rs1289240828
NM_005591.4(MRE11):c.*2658A>G rs566334031
NM_005591.4(MRE11):c.*2700C>T rs1945056665
NM_005591.4(MRE11):c.*2704G>C rs1208748781
NM_005591.4(MRE11):c.*313G>A rs886048758
NM_005591.4(MRE11):c.*447T>G rs886048757
NM_005591.4(MRE11):c.*630TC[14] rs201800515
NM_005591.4(MRE11):c.*630TC[16] rs201800515
NM_005591.4(MRE11):c.*630TC[17] rs201800515
NM_005591.4(MRE11):c.*630TC[18] rs201800515
NM_005591.4(MRE11):c.*630TC[20] rs201800515
NM_005591.4(MRE11):c.*659CT[4]CCC[1] rs373002609
NM_005591.4(MRE11):c.*659CT[6]CCC[1] rs373002609
NM_005591.4(MRE11):c.*659CT[7]CCC[1] rs373002609
NM_005591.4(MRE11):c.*669C>G rs886048755
NM_005591.4(MRE11):c.*760G>A rs557683409
NM_005591.4(MRE11):c.*877A>G rs1945099852
NM_005591.4(MRE11):c.*910dup rs886048753
NM_005591.4(MRE11):c.-106+11A>G rs1947359703
NM_005591.4(MRE11):c.1084C>G (p.Leu362Val) rs1565226205
NM_005591.4(MRE11):c.1098+1del
NM_005591.4(MRE11):c.1109G>C (p.Ser370Thr)
NM_005591.4(MRE11):c.1110T>G (p.Ser370Arg)
NM_005591.4(MRE11):c.112G>T (p.Val38Leu) rs786202896
NM_005591.4(MRE11):c.1163G>C (p.Arg388Pro) rs587780134
NM_005591.4(MRE11):c.1166T>A (p.Val389Glu) rs1591680946
NM_005591.4(MRE11):c.1180G>C (p.Asp394His) rs876658546
NM_005591.4(MRE11):c.1195T>C (p.Phe399Leu) rs904951211
NM_005591.4(MRE11):c.1201C>G (p.His401Asp) rs876660542
NM_005591.4(MRE11):c.123T>G (p.Asp41Glu) rs1398118094
NM_005591.4(MRE11):c.1244G>A (p.Gly415Glu) rs1946400969
NM_005591.4(MRE11):c.1318G>T (p.Ala440Ser) rs773469981
NM_005591.4(MRE11):c.1326G>A (p.Lys442=) rs1591674710
NM_005591.4(MRE11):c.1420G>A (p.Val474Met) rs778781414
NM_005591.4(MRE11):c.1475C>T (p.Ala492Val) rs61749249
NM_005591.4(MRE11):c.1496A>G (p.Glu499Gly) rs774145193
NM_005591.4(MRE11):c.1496A>T (p.Glu499Val) rs774145193
NM_005591.4(MRE11):c.1516G>A (p.Glu506Lys) rs587781384
NM_005591.4(MRE11):c.154-11C>G rs751354326
NM_005591.4(MRE11):c.1545A>G (p.Glu515=) rs886048759
NM_005591.4(MRE11):c.1596G>C (p.Gln532His)
NM_005591.4(MRE11):c.1609G>C (p.Ala537Pro) rs587781839
NM_005591.4(MRE11):c.1616C>T (p.Ala539Val)
NM_005591.4(MRE11):c.1724G>A (p.Gly575Asp) rs376555330
NM_005591.4(MRE11):c.1724G>T (p.Gly575Val) rs376555330
NM_005591.4(MRE11):c.1775G>A (p.Arg592Lys)
NM_005591.4(MRE11):c.1807A>G (p.Thr603Ala) rs751657849
NM_005591.4(MRE11):c.1811G>A (p.Arg604His) rs148637964
NM_005591.4(MRE11):c.1868-4C>A rs768257868
NM_005591.4(MRE11):c.1868-5T>C rs773911334
NM_005591.4(MRE11):c.1916A>C (p.Asn639Thr)
NM_005591.4(MRE11):c.19C>G (p.Leu7Val) rs73517551
NM_005591.4(MRE11):c.20+3A>G
NM_005591.4(MRE11):c.2035C>T (p.Gln679Ter)
NM_005591.4(MRE11):c.2071-15T>A
NM_005591.4(MRE11):c.2071GAT[6] (p.Asp695dup) rs779409748
NM_005591.4(MRE11):c.2076T>A (p.Asp692Glu) rs778093337
NM_005591.4(MRE11):c.21-6_26del rs587780138
NM_005591.4(MRE11):c.286G>C (p.Asp96His)
NM_005591.4(MRE11):c.309T>G (p.Phe103Leu)
NM_005591.4(MRE11):c.314+6T>C rs864622413
NM_005591.4(MRE11):c.364G>C (p.Val122Leu) rs876658586
NM_005591.4(MRE11):c.377A>G (p.His126Arg)
NM_005591.4(MRE11):c.470T>C (p.Met157Thr) rs1591707134
NM_005591.4(MRE11):c.508C>A (p.Gln170Lys) rs587782030
NM_005591.4(MRE11):c.535T>C (p.Tyr179His) rs864622308
NM_005591.4(MRE11):c.585T>C (p.Asn195=) rs886048760
NM_005591.4(MRE11):c.673A>G (p.Ser225Gly) rs763790530
NM_005591.4(MRE11):c.729G>C (p.Trp243Cys) rs587782105
NM_005591.4(MRE11):c.788T>A (p.Ile263Asn) rs764146299
NM_005591.4(MRE11):c.835G>C (p.Ala279Pro) rs147383852
NM_005591.4(MRE11):c.888G>T (p.Met296Ile)
NM_005591.4(MRE11):c.914G>A (p.Arg305Gln) rs752483206
NM_005591.4(MRE11):c.958A>G (p.Ile320Val) rs762210984
NM_005591.4(MRE11):c.986C>A (p.Thr329Asn) rs370645480

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