ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 416
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HGVS dbSNP gnomAD frequency
NM_005591.4(MRE11):c.1286T>C (p.Val429Ala) rs141293060 0.00022
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.1667A>G (p.Asn556Ser) rs144896235 0.00013
NM_005591.4(MRE11):c.469A>G (p.Met157Val) rs147771140 0.00013
NM_005591.4(MRE11):c.311G>C (p.Ser104Thr) rs587780140 0.00011
NM_005591.4(MRE11):c.1334A>G (p.Gln445Arg) rs371730091 0.00010
NM_005591.4(MRE11):c.1736G>A (p.Gly579Glu) rs757916109 0.00010
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr) rs142996063 0.00010
NM_005591.4(MRE11):c.913C>T (p.Arg305Trp) rs372000848 0.00010
NM_005591.4(MRE11):c.818C>G (p.Ser273Cys) rs143400546 0.00009
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442 0.00007
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.1574G>A (p.Arg525Lys) rs773275841 0.00006
NM_005591.4(MRE11):c.1858A>G (p.Ile620Val) rs144070976 0.00006
NM_005591.4(MRE11):c.2054A>G (p.Asp685Gly) rs554399982 0.00006
NM_005591.4(MRE11):c.323G>C (p.Trp108Ser) rs1216591891 0.00006
NM_005591.4(MRE11):c.391G>A (p.Asp131Asn) rs368403414 0.00006
NM_005591.4(MRE11):c.640T>C (p.Phe214Leu) rs750929369 0.00006
NM_005591.4(MRE11):c.863G>A (p.Arg288His) rs190142346 0.00006
NM_005591.4(MRE11):c.1162C>T (p.Arg388Trp) rs375223186 0.00005
NM_005591.4(MRE11):c.1852A>G (p.Met618Val) rs375630981 0.00005
NM_005591.4(MRE11):c.1036A>G (p.Asn346Asp) rs756040379 0.00004
NM_005591.4(MRE11):c.1312C>G (p.Gln438Glu) rs754078280 0.00004
NM_005591.4(MRE11):c.1883G>A (p.Arg628Lys) rs587781835 0.00004
NM_005591.4(MRE11):c.1972A>G (p.Thr658Ala) rs587782756 0.00004
NM_005591.4(MRE11):c.485T>C (p.Ile162Thr) rs150656288 0.00004
NM_005591.4(MRE11):c.530C>T (p.Ala177Val) rs773766504 0.00004
NM_005591.4(MRE11):c.1052G>A (p.Arg351His) rs587780133 0.00003
NM_005591.4(MRE11):c.107C>T (p.Thr36Met) rs768676557 0.00003
NM_005591.4(MRE11):c.1091G>T (p.Arg364Leu) rs140528613 0.00003
NM_005591.4(MRE11):c.1318G>A (p.Ala440Thr) rs773469981 0.00003
NM_005591.4(MRE11):c.1501-8T>G rs753131403 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.1559G>A (p.Arg520His) rs753148077 0.00003
NM_005591.4(MRE11):c.1571C>G (p.Thr524Ser) rs876659237 0.00003
NM_005591.4(MRE11):c.1622G>T (p.Ser541Ile) rs876660758 0.00003
NM_005591.4(MRE11):c.1718G>A (p.Gly573Glu) rs587781461 0.00003
NM_005591.4(MRE11):c.1834G>C (p.Val612Leu) rs371719012 0.00003
NM_005591.4(MRE11):c.1987G>A (p.Asp663Asn) rs1329286592 0.00003
NM_005591.4(MRE11):c.2042C>T (p.Ser681Leu) rs587782166 0.00003
NM_005591.4(MRE11):c.2048G>A (p.Gly683Glu) rs764705257 0.00003
NM_005591.4(MRE11):c.274G>A (p.Glu92Lys) rs587780139 0.00003
NM_005591.4(MRE11):c.305G>T (p.Gly102Val) rs199736271 0.00003
NM_005591.4(MRE11):c.310A>T (p.Ser104Cys) rs748434421 0.00003
NM_005591.4(MRE11):c.358A>G (p.Ile120Val) rs372131911 0.00003
NM_005591.4(MRE11):c.476T>C (p.Val159Ala) rs140130291 0.00003
NM_005591.4(MRE11):c.482A>G (p.Lys161Arg) rs587782294 0.00003
NM_005591.4(MRE11):c.534A>G (p.Leu178=) rs374635285 0.00003
NM_005591.4(MRE11):c.677C>G (p.Thr226Ser) rs201276188 0.00003
NM_005591.4(MRE11):c.73T>C (p.Phe25Leu) rs145218439 0.00003
NM_005591.4(MRE11):c.845+4A>C rs1182959968 0.00003
NM_005591.4(MRE11):c.848A>G (p.His283Arg) rs142727857 0.00003
NM_005591.4(MRE11):c.880A>G (p.Met294Val) rs786202636 0.00003
NM_005591.4(MRE11):c.1051C>T (p.Arg351Cys) rs757492041 0.00002
NM_005591.4(MRE11):c.1091G>A (p.Arg364Gln) rs140528613 0.00002
NM_005591.4(MRE11):c.1100T>G (p.Val367Gly) rs749526614 0.00002
NM_005591.4(MRE11):c.1129A>G (p.Ser377Gly) rs754522007 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.1202A>G (p.His401Arg) rs146779325 0.00002
NM_005591.4(MRE11):c.1501-4C>G rs377584386 0.00002
NM_005591.4(MRE11):c.1505G>A (p.Arg502His) rs767097795 0.00002
NM_005591.4(MRE11):c.1555G>T (p.Val519Phe) rs778116138 0.00002
NM_005591.4(MRE11):c.1563G>A (p.Glu521=) rs779250359 0.00002
NM_005591.4(MRE11):c.1753G>A (p.Ala585Thr) rs754790440 0.00002
NM_005591.4(MRE11):c.1783+8C>G rs372784831 0.00002
NM_005591.4(MRE11):c.1861A>G (p.Ile621Val) rs373444411 0.00002
NM_005591.4(MRE11):c.2071G>A (p.Asp691Asn) rs576011802 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.572G>A (p.Arg191Gln) rs746932208 0.00002
NM_005591.4(MRE11):c.681C>G (p.Asn227Lys) rs1490100562 0.00002
NM_005591.3(MRE11):c.497C>T rs587782308 0.00001
NM_005591.4(MRE11):c.1006T>A (p.Cys336Ser) rs1489951044 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.1058G>A (p.Gly353Asp) rs758816510 0.00001
NM_005591.4(MRE11):c.106A>G (p.Thr36Ala) rs774330292 0.00001
NM_005591.4(MRE11):c.1087G>A (p.Val363Ile) rs1423143143 0.00001
NM_005591.4(MRE11):c.1097G>A (p.Arg366Gln) rs773968042 0.00001
NM_005591.4(MRE11):c.1099-6T>A rs200457020 0.00001
NM_005591.4(MRE11):c.1106A>G (p.Tyr369Cys) rs746283923 0.00001
NM_005591.4(MRE11):c.1138C>T (p.Arg380Cys) rs766182900 0.00001
NM_005591.4(MRE11):c.1141T>C (p.Phe381Leu) rs767307692 0.00001
NM_005591.4(MRE11):c.1183A>G (p.Ile395Val) rs775670175 0.00001
NM_005591.4(MRE11):c.1200G>T (p.Arg400Ser) rs777004819 0.00001
NM_005591.4(MRE11):c.1205G>C (p.Arg402Thr) rs778211645 0.00001
NM_005591.4(MRE11):c.1225+10T>G rs863224734 0.00001
NM_005591.4(MRE11):c.1226-6T>G rs772736856 0.00001
NM_005591.4(MRE11):c.1238A>G (p.Asn413Ser) rs587782457 0.00001
NM_005591.4(MRE11):c.1259A>C (p.Lys420Thr) rs201153937 0.00001
NM_005591.4(MRE11):c.1268A>C (p.Glu423Ala) rs1565221498 0.00001
NM_005591.4(MRE11):c.1280T>C (p.Leu427Ser) rs786203449 0.00001
NM_005591.4(MRE11):c.1281A>T (p.Leu427Phe) rs1555009888 0.00001
NM_005591.4(MRE11):c.1403A>T (p.Asp468Val) rs1805367 0.00001
NM_005591.4(MRE11):c.1409T>C (p.Ile470Thr) rs746648446 0.00001
NM_005591.4(MRE11):c.1418T>C (p.Leu473Ser) rs771843497 0.00001
NM_005591.4(MRE11):c.1448G>A (p.Arg483Gln) rs587781378 0.00001
NM_005591.4(MRE11):c.1466A>G (p.His489Arg) rs1212127220 0.00001
NM_005591.4(MRE11):c.1478T>G (p.Leu493Arg) rs786203158 0.00001
NM_005591.4(MRE11):c.1492G>A (p.Asp498Asn) rs564511708 0.00001
NM_005591.4(MRE11):c.1499A>T (p.Glu500Val) rs786203159 0.00001
NM_005591.4(MRE11):c.1558C>T (p.Arg520Cys) rs567274622 0.00001
NM_005591.4(MRE11):c.1642A>G (p.Ile548Val) rs876659165 0.00001
NM_005591.4(MRE11):c.1673C>G (p.Ser558Cys) rs776688385 0.00001
NM_005591.4(MRE11):c.1676A>G (p.Asp559Gly) rs786201666 0.00001
NM_005591.4(MRE11):c.1699A>G (p.Asn567Asp) rs778585671 0.00001
NM_005591.4(MRE11):c.16G>A (p.Ala6Thr) rs1060501784 0.00001
NM_005591.4(MRE11):c.1715G>A (p.Arg572Gln) rs200085146 0.00001
NM_005591.4(MRE11):c.1729A>G (p.Arg577Gly) rs1200372640 0.00001
NM_005591.4(MRE11):c.1732G>T (p.Gly578Cys) rs547793891 0.00001
NM_005591.4(MRE11):c.1745A>G (p.Gln582Arg) rs752385699 0.00001
NM_005591.4(MRE11):c.1757C>T (p.Ser586Leu) rs753717905 0.00001
NM_005591.4(MRE11):c.1792G>C (p.Gly598Arg) rs587781951 0.00001
NM_005591.4(MRE11):c.1800G>T (p.Glu600Asp) rs1028566396 0.00001
NM_005591.4(MRE11):c.1810C>T (p.Arg604Cys) rs750926542 0.00001
NM_005591.4(MRE11):c.1822T>G (p.Ser608Ala) rs770184763 0.00001
NM_005591.4(MRE11):c.1850A>C (p.Asn617Thr) rs774012780 0.00001
NM_005591.4(MRE11):c.1853T>G (p.Met618Arg) rs748933763 0.00001
NM_005591.4(MRE11):c.1875A>C (p.Lys625Asn) rs907660509 0.00001
NM_005591.4(MRE11):c.1880C>T (p.Thr627Ile) rs748847822 0.00001
NM_005591.4(MRE11):c.190G>A (p.Glu64Lys) rs1947135431 0.00001
NM_005591.4(MRE11):c.1994+3A>C rs939310557 0.00001
NM_005591.4(MRE11):c.2023A>T (p.Met675Leu) rs756418071 0.00001
NM_005591.4(MRE11):c.2024T>C (p.Met675Thr) rs1173614760 0.00001
NM_005591.4(MRE11):c.2050G>C (p.Val684Leu) rs765958437 0.00001
NM_005591.4(MRE11):c.2070+2T>A rs786202801 0.00001
NM_005591.4(MRE11):c.2086C>T (p.Pro696Ser) rs876659349 0.00001
NM_005591.4(MRE11):c.2109A>C (p.Leu703Phe) rs1330929173 0.00001
NM_005591.4(MRE11):c.2109_2117del (p.Leu703_Asn706delinsPhe) rs757822582 0.00001
NM_005591.4(MRE11):c.2113A>G (p.Arg705Gly) rs755681342 0.00001
NM_005591.4(MRE11):c.218A>G (p.His73Arg) rs769313864 0.00001
NM_005591.4(MRE11):c.230A>T (p.Glu77Val) rs1060501791 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.260G>A (p.Arg87Gln) rs752585966 0.00001
NM_005591.4(MRE11):c.293C>T (p.Ser98Leu) rs766453484 0.00001
NM_005591.4(MRE11):c.337G>A (p.Asp113Asn) rs876659042 0.00001
NM_005591.4(MRE11):c.38T>G (p.Phe13Cys) rs1188101971 0.00001
NM_005591.4(MRE11):c.394C>T (p.Pro132Ser) rs777373591 0.00001
NM_005591.4(MRE11):c.423G>A (p.Leu141=) rs199540078 0.00001
NM_005591.4(MRE11):c.434G>T (p.Ser145Ile) rs771615477 0.00001
NM_005591.4(MRE11):c.454C>T (p.His152Tyr) rs876659023 0.00001
NM_005591.4(MRE11):c.455A>C (p.His152Pro) rs749043357 0.00001
NM_005591.4(MRE11):c.463C>T (p.Arg155Cys) rs587782512 0.00001
NM_005591.4(MRE11):c.464G>A (p.Arg155His) rs587780141 0.00001
NM_005591.4(MRE11):c.475G>A (p.Val159Met) rs864622344 0.00001
NM_005591.4(MRE11):c.484A>T (p.Ile162Leu) rs1207095262 0.00001
NM_005591.4(MRE11):c.526A>G (p.Ile176Val) rs587781676 0.00001
NM_005591.4(MRE11):c.544+5G>T rs564688936 0.00001
NM_005591.4(MRE11):c.587A>G (p.Lys196Arg) rs376895161 0.00001
NM_005591.4(MRE11):c.626C>T (p.Ser209Phe) rs1555014479 0.00001
NM_005591.4(MRE11):c.634A>G (p.Asn212Asp) rs754184272 0.00001
NM_005591.4(MRE11):c.653A>G (p.Gln218Arg) rs587780144 0.00001
NM_005591.4(MRE11):c.661A>C (p.Ser221Arg) rs587781272 0.00001
NM_005591.4(MRE11):c.671G>A (p.Gly224Glu) rs749446968 0.00001
NM_005591.4(MRE11):c.679A>G (p.Asn227Asp) rs1591695560 0.00001
NM_005591.4(MRE11):c.689C>T (p.Pro230Leu) rs185439615 0.00001
NM_005591.4(MRE11):c.716A>G (p.Asp239Gly) rs876659678 0.00001
NM_005591.4(MRE11):c.718C>G (p.Leu240Val) rs786203969 0.00001
NM_005591.4(MRE11):c.734A>T (p.His245Leu) rs1555013153 0.00001
NM_005591.4(MRE11):c.740A>G (p.His247Arg) rs876659322 0.00001
NM_005591.4(MRE11):c.758C>T (p.Pro253Leu) rs587782051 0.00001
NM_005591.4(MRE11):c.763A>G (p.Lys255Glu) rs1468500373 0.00001
NM_005591.4(MRE11):c.7A>G (p.Thr3Ala) rs876658926 0.00001
NM_005591.4(MRE11):c.826C>T (p.Pro276Ser) rs587782742 0.00001
NM_005591.4(MRE11):c.862C>T (p.Arg288Cys) rs753958669 0.00001
NM_005591.4(MRE11):c.908C>T (p.Thr303Ile) rs1222130330 0.00001
NM_005591.4(MRE11):c.946A>G (p.Asn316Asp) rs767684060 0.00001
NM_005591.4(MRE11):c.958A>C (p.Ile320Leu) rs762210984 0.00001
NM_005591.4(MRE11):c.971A>G (p.Asp324Gly) rs763563427 0.00001
NM_005591.4(MRE11):c.981A>G (p.Lys327=) rs587782569 0.00001
NM_005591.4(MRE11):c.983T>G (p.Val328Gly) rs587782314 0.00001
NM_005591.4(MRE11):c.98G>A (p.Gly33Glu) rs761681478 0.00001
NC_000011.10:g.(?_94420119)_(94437241_?)del
NC_000011.10:g.(?_94420125)_(94420191_?)del
NC_000011.9:g.(?_94189432)_(94189514_?)del
NM_005591.3(MRE11):c.1226_1228delGAG rs587782089
NM_005591.4(MRE11):c.1004T>C (p.Phe335Ser) rs1262089412
NM_005591.4(MRE11):c.100A>T (p.Asn34Tyr) rs1947265904
NM_005591.4(MRE11):c.1034A>G (p.Glu345Gly) rs1224864635
NM_005591.4(MRE11):c.103G>A (p.Asp35Asn) rs1591726630
NM_005591.4(MRE11):c.1073C>A (p.Pro358Gln) rs1430351329
NM_005591.4(MRE11):c.1082C>G (p.Pro361Arg) rs1591688182
NM_005591.4(MRE11):c.1090C>G (p.Arg364Gly) rs371077728
NM_005591.4(MRE11):c.1098+17T>G
NM_005591.4(MRE11):c.1099-8_1099-7del
NM_005591.4(MRE11):c.1124C>A (p.Pro375His) rs1337955464
NM_005591.4(MRE11):c.112G>C (p.Val38Leu)
NM_005591.4(MRE11):c.112G>T (p.Val38Leu) rs786202896
NM_005591.4(MRE11):c.1130G>A (p.Ser377Asn) rs753536984
NM_005591.4(MRE11):c.1138C>A (p.Arg380Ser) rs766182900
NM_005591.4(MRE11):c.1151A>T (p.Lys384Ile) rs1193534253
NM_005591.4(MRE11):c.1152A>G (p.Lys384=) rs1294482308
NM_005591.4(MRE11):c.1163G>C (p.Arg388Pro) rs587780134
NM_005591.4(MRE11):c.1165G>T (p.Val389Leu) rs876660518
NM_005591.4(MRE11):c.1187T>C (p.Ile396Thr) rs1555010863
NM_005591.4(MRE11):c.118C>T (p.Leu40Phe) rs1947265336
NM_005591.4(MRE11):c.1194T>A (p.Phe398Leu) rs1555010853
NM_005591.4(MRE11):c.1195T>A (p.Phe399Ile) rs904951211
NM_005591.4(MRE11):c.1201C>G (p.His401Asp) rs876660542
NM_005591.4(MRE11):c.1204A>G (p.Arg402Gly) rs1946496508
NM_005591.4(MRE11):c.1219A>C (p.Lys407Gln) rs1946495898
NM_005591.4(MRE11):c.121G>C (p.Asp41His) rs116679717
NM_005591.4(MRE11):c.123_125del (p.Asp41del) rs1555018284
NM_005591.4(MRE11):c.1243G>C (p.Gly415Arg) rs1591675029
NM_005591.4(MRE11):c.1259A>G (p.Lys420Arg) rs201153937
NM_005591.4(MRE11):c.1261C>T (p.Pro421Ser) rs1398359004
NM_005591.4(MRE11):c.1270G>A (p.Gly424Arg)
NM_005591.4(MRE11):c.1273A>T (p.Thr425Ser) rs1293831035
NM_005591.4(MRE11):c.1282A>G (p.Arg428Gly) rs1060501787
NM_005591.4(MRE11):c.1297G>A (p.Val433Ile)
NM_005591.4(MRE11):c.1318G>T (p.Ala440Ser) rs773469981
NM_005591.4(MRE11):c.1325A>G (p.Lys442Arg) rs1946397449
NM_005591.4(MRE11):c.1326+3A>G rs863224735
NM_005591.4(MRE11):c.1335G>T (p.Gln445His)
NM_005591.4(MRE11):c.1360A>G (p.Met454Val)
NM_005591.4(MRE11):c.1366G>A (p.Glu456Lys) rs1591672636
NM_005591.4(MRE11):c.1369G>A (p.Ala457Thr) rs1555009409
NM_005591.4(MRE11):c.1372G>A (p.Val458Ile) rs764734589
NM_005591.4(MRE11):c.1382T>C (p.Phe461Ser)
NM_005591.4(MRE11):c.1383T>G (p.Phe461Leu)
NM_005591.4(MRE11):c.1389C>G (p.Asp463Glu) rs1226046388
NM_005591.4(MRE11):c.1408A>G (p.Ile470Val) rs1555009360
NM_005591.4(MRE11):c.140C>T (p.Ala47Val) rs730880378
NM_005591.4(MRE11):c.1420G>A (p.Val474Met) rs778781414
NM_005591.4(MRE11):c.1421T>C (p.Val474Ala) rs1555009328
NM_005591.4(MRE11):c.1442C>T (p.Thr481Ile) rs137852762
NM_005591.4(MRE11):c.1462C>G (p.Arg488Gly) rs375261439
NM_005591.4(MRE11):c.1483G>C (p.Asp495His)
NM_005591.4(MRE11):c.1496A>G (p.Glu499Gly) rs774145193
NM_005591.4(MRE11):c.1501-10T>A
NM_005591.4(MRE11):c.1501-8T>A rs753131403
NM_005591.4(MRE11):c.152A>G (p.Glu51Gly) rs1591726479
NM_005591.4(MRE11):c.153+6T>C rs1591726473
NM_005591.4(MRE11):c.1545A>C (p.Glu515Asp)
NM_005591.4(MRE11):c.1545A>T (p.Glu515Asp)
NM_005591.4(MRE11):c.1546G>C (p.Asp516His) rs1060501785
NM_005591.4(MRE11):c.1547A>T (p.Asp516Val)
NM_005591.4(MRE11):c.154G>C (p.Val52Leu)
NM_005591.4(MRE11):c.1551T>G (p.Asp517Glu) rs1555008221
NM_005591.4(MRE11):c.1555G>A (p.Val519Ile)
NM_005591.4(MRE11):c.1569G>A (p.Met523Ile)
NM_005591.4(MRE11):c.1582G>A (p.Ala528Thr) rs780018393
NM_005591.4(MRE11):c.1589G>A (p.Arg530Lys) rs151329524
NM_005591.4(MRE11):c.1629T>A (p.Asp543Glu) rs1376310486
NM_005591.4(MRE11):c.1632C>G (p.Asp544Glu) rs1450541901
NM_005591.4(MRE11):c.1639A>C (p.Ser547Arg) rs786203665
NM_005591.4(MRE11):c.1658A>C (p.Gln553Pro) rs1591655188
NM_005591.4(MRE11):c.1669G>A (p.Asp557Asn) rs1591655152
NM_005591.4(MRE11):c.1687T>C (p.Ser563Pro) rs200950718
NM_005591.4(MRE11):c.1693G>A (p.Ala565Thr)
NM_005591.4(MRE11):c.16G>C (p.Ala6Pro) rs1060501784
NM_005591.4(MRE11):c.1710A>T (p.Arg570Ser)
NM_005591.4(MRE11):c.1713_1718del (p.569GR[3]) rs1945961690
NM_005591.4(MRE11):c.1718G>T (p.Gly573Val) rs587781461
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.1731A>C (p.Arg577Ser) rs1591654959
NM_005591.4(MRE11):c.1734_1742del (p.Gly579_Gly581del) rs1945960036
NM_005591.4(MRE11):c.1735G>A (p.Gly579Arg)
NM_005591.4(MRE11):c.173G>A (p.Gly58Asp)
NM_005591.4(MRE11):c.173G>C (p.Gly58Ala)
NM_005591.4(MRE11):c.1741G>A (p.Gly581Arg) rs864622095
NM_005591.4(MRE11):c.1762G>A (p.Gly588Arg) rs1555005282
NM_005591.4(MRE11):c.1763G>A (p.Gly588Glu) rs760676667
NM_005591.4(MRE11):c.1766G>A (p.Gly589Glu) rs1945958943
NM_005591.4(MRE11):c.1781G>A (p.Arg594Lys) rs1555005264
NM_005591.4(MRE11):c.1783G>C (p.Ala595Pro) rs786203356
NM_005591.4(MRE11):c.1789A>G (p.Thr597Ala) rs1945915086
NM_005591.4(MRE11):c.1792G>T (p.Gly598Cys) rs587781951
NM_005591.4(MRE11):c.1799A>G (p.Glu600Gly) rs1060501786
NM_005591.4(MRE11):c.1801A>C (p.Thr601Pro) rs1565211523
NM_005591.4(MRE11):c.1807A>G (p.Thr603Ala) rs751657849
NM_005591.4(MRE11):c.1808C>T (p.Thr603Ile) rs1060501789
NM_005591.4(MRE11):c.1811G>A (p.Arg604His) rs148637964
NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro) rs148637964
NM_005591.4(MRE11):c.181C>G (p.Leu61Val) rs786203268
NM_005591.4(MRE11):c.1834G>A (p.Val612Met) rs371719012
NM_005591.4(MRE11):c.1843T>C (p.Ser615Pro) rs587780137
NM_005591.4(MRE11):c.1850A>G (p.Asn617Ser) rs774012780
NM_005591.4(MRE11):c.1853T>C (p.Met618Thr)
NM_005591.4(MRE11):c.1855T>G (p.Ser619Ala) rs1945911516
NM_005591.4(MRE11):c.1868-5T>C rs773911334
NM_005591.4(MRE11):c.1877C>A (p.Ser626Tyr)
NM_005591.4(MRE11):c.187C>T (p.His63Tyr)
NM_005591.4(MRE11):c.1892C>G (p.Pro631Arg) rs1555002427
NM_005591.4(MRE11):c.1898G>A (p.Arg633Gln) rs745614941
NM_005591.4(MRE11):c.18_19delinsTG (p.Leu7Val) rs876659164
NM_005591.4(MRE11):c.1903G>A (p.Val635Ile)
NM_005591.4(MRE11):c.1910C>G (p.Thr637Ser) rs1945642509
NM_005591.4(MRE11):c.1913A>T (p.Lys638Met) rs1591642491
NM_005591.4(MRE11):c.1918T>A (p.Tyr640Asn) rs864622429
NM_005591.4(MRE11):c.1926+4A>C rs876660210
NM_005591.4(MRE11):c.1937T>C (p.Val646Ala) rs1555002076
NM_005591.4(MRE11):c.1948G>C (p.Asp650His) rs1945595743
NM_005591.4(MRE11):c.1952T>A (p.Val651Glu) rs876660120
NM_005591.4(MRE11):c.1963A>G (p.Ile655Val)
NM_005591.4(MRE11):c.1967T>C (p.Phe656Ser) rs1555002052
NM_005591.4(MRE11):c.1972A>C (p.Thr658Pro) rs587782756
NM_005591.4(MRE11):c.1994+3A>G rs939310557
NM_005591.4(MRE11):c.199C>T (p.Pro67Ser)
NM_005591.4(MRE11):c.19C>T (p.Leu7Phe) rs73517551
NM_005591.4(MRE11):c.2023A>G (p.Met675Val) rs756418071
NM_005591.4(MRE11):c.2024T>G (p.Met675Arg) rs1173614760
NM_005591.4(MRE11):c.2026T>G (p.Ser676Ala) rs1945419889
NM_005591.4(MRE11):c.202T>C (p.Ser68Pro) rs1555017253
NM_005591.4(MRE11):c.2030A>G (p.Gln677Arg)
NM_005591.4(MRE11):c.2033G>A (p.Ser678Asn) rs781684108
NM_005591.4(MRE11):c.2035C>G (p.Gln679Glu) rs1332059826
NM_005591.4(MRE11):c.2042C>G (p.Ser681Trp) rs587782166
NM_005591.4(MRE11):c.2051T>C (p.Val684Ala) rs876659981
NM_005591.4(MRE11):c.2053G>T (p.Asp685Tyr) rs864622186
NM_005591.4(MRE11):c.2065A>C (p.Ser689Arg) rs1591633806
NM_005591.4(MRE11):c.2066G>A (p.Ser689Asn) rs1238082340
NM_005591.4(MRE11):c.2070+5del rs587782048
NM_005591.4(MRE11):c.2071-3C>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.2096A>G (p.Asn699Ser) rs876660153
NM_005591.4(MRE11):c.21-10C>G
NM_005591.4(MRE11):c.2117A>G (p.Asn706Ser) rs1591621080
NM_005591.4(MRE11):c.217C>T (p.His73Tyr) rs1023372148
NM_005591.4(MRE11):c.231G>T (p.Glu77Asp) rs755553376
NM_005591.4(MRE11):c.239G>T (p.Arg80Ile) rs587782472
NM_005591.4(MRE11):c.245_250del (p.Tyr82_Met84delinsLeu)
NM_005591.4(MRE11):c.247T>C (p.Cys83Arg) rs587782486
NM_005591.4(MRE11):c.283A>G (p.Ser95Gly) rs1947130450
NM_005591.4(MRE11):c.28G>A (p.Glu10Lys) rs756308200
NM_005591.4(MRE11):c.299A>C (p.Asn100Thr) rs1270616264
NM_005591.4(MRE11):c.302T>A (p.Phe101Tyr) rs1555017179
NM_005591.4(MRE11):c.304_305delinsAC (p.Gly102Thr) rs1947129382
NM_005591.4(MRE11):c.305G>C (p.Gly102Ala) rs199736271
NM_005591.4(MRE11):c.314+6T>C rs864622413
NM_005591.4(MRE11):c.314A>C (p.Lys105Thr) rs1025272236
NM_005591.4(MRE11):c.32A>G (p.Asn11Ser) rs1555018337
NM_005591.4(MRE11):c.331T>G (p.Tyr111Asp) rs1555015455
NM_005591.4(MRE11):c.332A>G (p.Tyr111Cys) rs374193648
NM_005591.4(MRE11):c.33C>A (p.Asn11Lys) rs746088302
NM_005591.4(MRE11):c.343A>G (p.Asn115Asp) rs1487875560
NM_005591.4(MRE11):c.344A>G (p.Asn115Ser)
NM_005591.4(MRE11):c.346C>T (p.Leu116Phe) rs767598349
NM_005591.4(MRE11):c.365T>G (p.Val122Gly) rs1565234530
NM_005591.4(MRE11):c.37T>C (p.Phe13Leu) rs149101834
NM_005591.4(MRE11):c.388G>A (p.Asp130Asn) rs1591708529
NM_005591.4(MRE11):c.389A>G (p.Asp130Gly) rs1946965303
NM_005591.4(MRE11):c.391G>T (p.Asp131Tyr) rs368403414
NM_005591.4(MRE11):c.402G>C (p.Gly134=) rs587782669
NM_005591.4(MRE11):c.427A>G (p.Ile143Val) rs1591707277
NM_005591.4(MRE11):c.44T>C (p.Ile15Thr) rs758942894
NM_005591.4(MRE11):c.460G>A (p.Gly154Arg)
NM_005591.4(MRE11):c.464G>T (p.Arg155Leu)
NM_005591.4(MRE11):c.488A>C (p.Asp163Ala) rs1060501783
NM_005591.4(MRE11):c.49G>A (p.Val17Ile) rs1060501790
NM_005591.4(MRE11):c.49G>C (p.Val17Leu) rs1060501790
NM_005591.4(MRE11):c.527T>G (p.Ile176Ser)
NM_005591.4(MRE11):c.529G>C (p.Ala177Pro)
NM_005591.4(MRE11):c.52_54del (p.Ala18del) rs876658216
NM_005591.4(MRE11):c.535T>C (p.Tyr179His) rs864622308
NM_005591.4(MRE11):c.544+4A>T
NM_005591.4(MRE11):c.544G>A (p.Gly182Arg)
NM_005591.4(MRE11):c.569A>G (p.Tyr190Cys) rs148584947
NM_005591.4(MRE11):c.579T>G (p.Phe193Leu) rs1228609222
NM_005591.4(MRE11):c.581T>C (p.Val194Ala) rs1946855902
NM_005591.4(MRE11):c.586A>C (p.Lys196Gln)
NM_005591.4(MRE11):c.596C>T (p.Thr199Ile) rs890702534
NM_005591.4(MRE11):c.598A>G (p.Met200Val) rs1441332192
NM_005591.4(MRE11):c.611A>G (p.Lys204Arg) rs876659107
NM_005591.4(MRE11):c.620A>G (p.Glu207Gly)
NM_005591.4(MRE11):c.62T>C (p.Ile21Thr) rs1475558133
NM_005591.4(MRE11):c.658A>C (p.Arg220=)
NM_005591.4(MRE11):c.660-5T>C
NM_005591.4(MRE11):c.660-6A>G rs1946722633
NM_005591.4(MRE11):c.668A>T (p.His223Leu)
NM_005591.4(MRE11):c.673A>C (p.Ser225Arg) rs763790530
NM_005591.4(MRE11):c.674G>A (p.Ser225Asn)
NM_005591.4(MRE11):c.677C>T (p.Thr226Ile) rs201276188
NM_005591.4(MRE11):c.6T>A (p.Ser2Arg) rs777751367
NM_005591.4(MRE11):c.707A>C (p.Asp236Ala) rs1591695442
NM_005591.4(MRE11):c.712A>G (p.Ile238Val) rs1591695421
NM_005591.4(MRE11):c.715G>C (p.Asp239His) rs1258698614
NM_005591.4(MRE11):c.716A>T (p.Asp239Val) rs876659678
NM_005591.4(MRE11):c.721G>C (p.Val241Leu) rs1946718176
NM_005591.4(MRE11):c.735T>G (p.His245Gln)
NM_005591.4(MRE11):c.74T>A (p.Phe25Tyr)
NM_005591.4(MRE11):c.74T>G (p.Phe25Cys) rs1947266764
NM_005591.4(MRE11):c.751A>G (p.Ile251Val)
NM_005591.4(MRE11):c.761C>T (p.Thr254Ile) rs864622495
NM_005591.4(MRE11):c.773A>G (p.Gln258Arg) rs761771002
NM_005591.4(MRE11):c.775C>G (p.Gln259Glu) rs1060501788
NM_005591.4(MRE11):c.778C>G (p.Leu260Val) rs1946715600
NM_005591.4(MRE11):c.788T>A (p.Ile263Asn)
NM_005591.4(MRE11):c.802A>G (p.Ser268Gly)
NM_005591.4(MRE11):c.820C>G (p.Leu274Val) rs1555013057
NM_005591.4(MRE11):c.835G>C (p.Ala279Pro) rs147383852
NM_005591.4(MRE11):c.838G>C (p.Val280Leu)
NM_005591.4(MRE11):c.845+4_845+7del rs1946711646
NM_005591.4(MRE11):c.845+8T>G
NM_005591.4(MRE11):c.881T>G (p.Met294Arg)
NM_005591.4(MRE11):c.884A>G (p.Asn295Ser) rs1946681154
NM_005591.4(MRE11):c.905A>C (p.His302Pro) rs587782042
NM_005591.4(MRE11):c.907A>G (p.Thr303Ala)
NM_005591.4(MRE11):c.909A>G (p.Thr303=) rs780867675
NM_005591.4(MRE11):c.914G>A (p.Arg305Gln) rs752483206
NM_005591.4(MRE11):c.924C>A (p.Phe308Leu) rs138595973
NM_005591.4(MRE11):c.932A>G (p.Asp311Gly)
NM_005591.4(MRE11):c.970G>C (p.Asp324His) rs1591692518
NM_005591.4(MRE11):c.983_985dup (p.Val328_Thr329insIle) rs1555012659
NM_005591.4(MRE11):c.986C>A (p.Thr329Asn) rs370645480
NM_005591.4(MRE11):c.986C>G (p.Thr329Ser) rs370645480

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