ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 501
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005591.4(MRE11):c.1286T>C (p.Val429Ala) rs141293060 0.00023
NM_005591.4(MRE11):c.1667A>G (p.Asn556Ser) rs144896235 0.00018
NM_005591.4(MRE11):c.1726C>G (p.Arg576Gly) rs774277300 0.00016
NM_005591.4(MRE11):c.586A>C (p.Lys196Gln) rs1305804736 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.311G>C (p.Ser104Thr) rs587780140 0.00011
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr) rs142996063 0.00010
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.162T>C (p.Phe54=) rs759510795 0.00008
NM_005591.4(MRE11):c.913C>T (p.Arg305Trp) rs372000848 0.00008
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442 0.00007
NM_005591.4(MRE11):c.482A>G (p.Lys161Arg) rs587782294 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.1858A>G (p.Ile620Val) rs144070976 0.00006
NM_005591.4(MRE11):c.2054A>G (p.Asp685Gly) rs554399982 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.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.1052G>A (p.Arg351His) rs587780133 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.848A>G (p.His283Arg) rs142727857 0.00004
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.1507C>T (p.Arg503Cys) rs761458720 0.00003
NM_005591.4(MRE11):c.1508G>A (p.Arg503His) rs774057024 0.00003
NM_005591.4(MRE11):c.1571C>G (p.Thr524Ser) rs876659237 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.2048G>A (p.Gly683Glu) rs764705257 0.00003
NM_005591.4(MRE11):c.305G>T (p.Gly102Val) rs199736271 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.677C>G (p.Thr226Ser) rs201276188 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.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.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.1574G>A (p.Arg525Lys) rs773275841 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.2042C>T (p.Ser681Leu) rs587782166 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.545-13A>G rs370306271 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_005591.4(MRE11):c.858G>T (p.Leu286Phe) rs1264079003 0.00002
NM_005591.4(MRE11):c.1006T>A (p.Cys336Ser) rs1489951044 0.00001
NM_005591.4(MRE11):c.1024G>A (p.Glu342Lys) rs786201985 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.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.1458A>C (p.Lys486Asn) rs587781590 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.1501-8T>G rs753131403 0.00001
NM_005591.4(MRE11):c.1558C>T (p.Arg520Cys) rs567274622 0.00001
NM_005591.4(MRE11):c.1559G>A (p.Arg520His) rs753148077 0.00001
NM_005591.4(MRE11):c.1622G>T (p.Ser541Ile) rs876660758 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.1718G>A (p.Gly573Glu) rs587781461 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.2037A>G (p.Gln679=) rs786203913 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.2124A>G (p.Arg708=) rs138017560 0.00001
NM_005591.4(MRE11):c.218A>G (p.His73Arg) rs769313864 0.00001
NM_005591.4(MRE11):c.221C>A (p.Thr74Asn) rs201054129 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.310A>T (p.Ser104Cys) rs748434421 0.00001
NM_005591.4(MRE11):c.323G>C (p.Trp108Ser) rs1216591891 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.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.497C>T (p.Pro166Leu) rs587782308 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.544G>A (p.Gly182Arg) rs1446077946 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.64C>T (p.His22Tyr) rs753346527 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.674G>A (p.Ser225Asn) rs1418567615 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.766A>G (p.Asn256Asp) rs755853053 0.00001
NM_005591.4(MRE11):c.789C>G (p.Ile263Met) rs762907103 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.838G>C (p.Val280Leu) rs755762623 0.00001
NM_005591.4(MRE11):c.845+4A>C rs1182959968 0.00001
NM_005591.4(MRE11):c.862C>T (p.Arg288Cys) rs753958669 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.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.(?_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.1012G>C (p.Glu338Gln) rs754844454
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.1106A>C (p.Tyr369Ser)
NM_005591.4(MRE11):c.1124C>A (p.Pro375His) rs1337955464
NM_005591.4(MRE11):c.112G>C (p.Val38Leu) rs786202896
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.1163G>C (p.Arg388Pro) rs587780134
NM_005591.4(MRE11):c.1165G>T (p.Val389Leu) rs876660518
NM_005591.4(MRE11):c.1172A>C (p.Asn391Thr)
NM_005591.4(MRE11):c.1180G>C (p.Asp394His) rs876658546
NM_005591.4(MRE11):c.1185_1187del (p.Ile396del)
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.1195T>C (p.Phe399Leu) rs904951211
NM_005591.4(MRE11):c.1201C>G (p.His401Asp) rs876660542
NM_005591.4(MRE11):c.1201C>T (p.His401Tyr) rs876660542
NM_005591.4(MRE11):c.1204A>G (p.Arg402Gly) rs1946496508
NM_005591.4(MRE11):c.1207G>A (p.Glu403Lys)
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.1221A>C (p.Lys407Asn) rs587780135
NM_005591.4(MRE11):c.1225+19_1225+20inv
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.1253T>C (p.Ile418Thr) rs769500356
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) rs2135000168
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) rs1194857623
NM_005591.4(MRE11):c.1318G>T (p.Ala440Ser) rs773469981
NM_005591.4(MRE11):c.1324A>G (p.Lys442Glu)
NM_005591.4(MRE11):c.1325A>G (p.Lys442Arg) rs1946397449
NM_005591.4(MRE11):c.1326+4A>G
NM_005591.4(MRE11):c.1335G>T (p.Gln445His) rs767986238
NM_005591.4(MRE11):c.1360A>G (p.Met454Val) rs2134991449
NM_005591.4(MRE11):c.1363G>A (p.Gly455Ser)
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.1379A>G (p.Glu460Gly) rs1555009398
NM_005591.4(MRE11):c.1382T>C (p.Phe461Ser) rs2134991145
NM_005591.4(MRE11):c.1383T>G (p.Phe461Leu) rs759049812
NM_005591.4(MRE11):c.1389C>G (p.Asp463Glu) rs1226046388
NM_005591.4(MRE11):c.13G>A (p.Asp5Asn)
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.1426T>C (p.Tyr476His) rs1555009322
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.1475C>T (p.Ala492Val) rs61749249
NM_005591.4(MRE11):c.1483G>C (p.Asp495His) rs2134989665
NM_005591.4(MRE11):c.1496A>G (p.Glu499Gly) rs774145193
NM_005591.4(MRE11):c.149A>C (p.Asn50Thr)
NM_005591.4(MRE11):c.1501-10T>A rs2134970824
NM_005591.4(MRE11):c.1501-8T>A rs753131403
NM_005591.4(MRE11):c.1513A>G (p.Arg505Gly)
NM_005591.4(MRE11):c.152A>G (p.Glu51Gly) rs1591726479
NM_005591.4(MRE11):c.153+5G>A
NM_005591.4(MRE11):c.153+6T>C rs1591726473
NM_005591.4(MRE11):c.153+9G>A
NM_005591.4(MRE11):c.153A>G (p.Glu51=)
NM_005591.4(MRE11):c.154-4T>A
NM_005591.4(MRE11):c.1545A>C (p.Glu515Asp) rs886048759
NM_005591.4(MRE11):c.1545A>T (p.Glu515Asp) rs886048759
NM_005591.4(MRE11):c.1546G>C (p.Asp516His) rs1060501785
NM_005591.4(MRE11):c.1547A>T (p.Asp516Val) rs771215537
NM_005591.4(MRE11):c.154G>C (p.Val52Leu) rs2135123207
NM_005591.4(MRE11):c.1550A>C (p.Asp517Ala)
NM_005591.4(MRE11):c.1551T>G (p.Asp517Glu) rs1555008221
NM_005591.4(MRE11):c.1555G>A (p.Val519Ile) rs778116138
NM_005591.4(MRE11):c.1569G>A (p.Met523Ile) rs2134909832
NM_005591.4(MRE11):c.156G>A (p.Val52=) rs1591719454
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.1607C>G (p.Ser536Cys)
NM_005591.4(MRE11):c.1612T>A (p.Ser538Thr) rs771823269
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.1634T>C (p.Leu545Pro) rs887415959
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.1660A>G (p.Met554Val)
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) rs1448557920
NM_005591.4(MRE11):c.16G>C (p.Ala6Pro) rs1060501784
NM_005591.4(MRE11):c.1703A>C (p.Lys568Thr)
NM_005591.4(MRE11):c.1710A>T (p.Arg570Ser) rs2134907889
NM_005591.4(MRE11):c.1713_1718del (p.569GR[3]) rs1945961690
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.172G>A (p.Gly58Ser)
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) rs1403124887
NM_005591.4(MRE11):c.173G>A (p.Gly58Asp) rs1482890077
NM_005591.4(MRE11):c.173G>C (p.Gly58Ala) rs1482890077
NM_005591.4(MRE11):c.1741G>A (p.Gly581Arg) rs864622095
NM_005591.4(MRE11):c.175G>C (p.Gly59Arg)
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.1782A>G (p.Arg594=) rs1591654817
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.1820A>G (p.Asn607Ser) rs1002601808
NM_005591.4(MRE11):c.1828A>G (p.Thr610Ala) rs876660562
NM_005591.4(MRE11):c.1834G>A (p.Val612Met) rs371719012
NM_005591.4(MRE11):c.1841C>T (p.Ala614Val)
NM_005591.4(MRE11):c.1843T>C (p.Ser615Pro) rs587780137
NM_005591.4(MRE11):c.1847G>T (p.Arg616Ile) rs1591652874
NM_005591.4(MRE11):c.1850A>G (p.Asn617Ser) rs774012780
NM_005591.4(MRE11):c.1853T>C (p.Met618Thr) rs748933763
NM_005591.4(MRE11):c.1855T>G (p.Ser619Ala) rs1945911516
NM_005591.4(MRE11):c.1867+3G>A
NM_005591.4(MRE11):c.1877C>A (p.Ser626Tyr) rs1352158854
NM_005591.4(MRE11):c.187C>T (p.His63Tyr) rs2135122992
NM_005591.4(MRE11):c.1886A>G (p.Gln629Arg)
NM_005591.4(MRE11):c.1892C>G (p.Pro631Arg) rs1555002427
NM_005591.4(MRE11):c.1895C>T (p.Ser632Phe)
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) rs2134840277
NM_005591.4(MRE11):c.1904T>G (p.Val635Gly) rs780850078
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.1916A>T (p.Asn639Ile)
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.1946C>T (p.Ser649Leu) rs1591640949
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.1960G>T (p.Asp654Tyr) rs1264567817
NM_005591.4(MRE11):c.1963A>G (p.Ile655Val) rs770693038
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) rs2135122903
NM_005591.4(MRE11):c.19C>T (p.Leu7Phe) rs73517551
NM_005591.4(MRE11):c.1A>G (p.Met1Val)
NM_005591.4(MRE11):c.20+4A>C
NM_005591.4(MRE11):c.2012C>G (p.Ser671Cys)
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.2025G>T (p.Met675Ile)
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) rs750746838
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 rs2134733900
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.2117A>G (p.Asn706Ser) rs1591621080
NM_005591.4(MRE11):c.217C>T (p.His73Tyr) rs1023372148
NM_005591.4(MRE11):c.224G>A (p.Cys75Tyr) rs772423554
NM_005591.4(MRE11):c.22G>A (p.Asp8Asn)
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.247T>C (p.Cys83Arg) rs587782486
NM_005591.4(MRE11):c.248G>A (p.Cys83Tyr)
NM_005591.4(MRE11):c.251T>C (p.Met84Thr) rs1482454029
NM_005591.4(MRE11):c.253G>A (p.Gly85Ser)
NM_005591.4(MRE11):c.265G>T (p.Val89Phe)
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.299A>G (p.Asn100Ser)
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.309T>G (p.Phe103Leu)
NM_005591.4(MRE11):c.311G>A (p.Ser104Asn)
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) rs2135091423
NM_005591.4(MRE11):c.345C>G (p.Asn115Lys)
NM_005591.4(MRE11):c.346C>T (p.Leu116Phe) rs767598349
NM_005591.4(MRE11):c.34A>G (p.Thr12Ala)
NM_005591.4(MRE11):c.35C>T (p.Thr12Ile)
NM_005591.4(MRE11):c.365T>G (p.Val122Gly) rs1565234530
NM_005591.4(MRE11):c.368T>G (p.Phe123Cys)
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>C (p.Asp131His)
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.426C>A (p.Asp142Glu)
NM_005591.4(MRE11):c.427A>G (p.Ile143Val) rs1591707277
NM_005591.4(MRE11):c.428T>G (p.Ile143Ser)
NM_005591.4(MRE11):c.44T>C (p.Ile15Thr) rs758942894
NM_005591.4(MRE11):c.460G>A (p.Gly154Arg) rs2135085730
NM_005591.4(MRE11):c.464G>T (p.Arg155Leu) rs587780141
NM_005591.4(MRE11):c.469A>T (p.Met157Leu)
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.509A>G (p.Gln170Arg) rs1300387008
NM_005591.4(MRE11):c.525G>T (p.Lys175Asn) rs1591706892
NM_005591.4(MRE11):c.527T>G (p.Ile176Ser) rs2135084831
NM_005591.4(MRE11):c.529G>C (p.Ala177Pro) rs142996063
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+2_544+5dup
NM_005591.4(MRE11):c.544+4A>T rs2135084555
NM_005591.4(MRE11):c.569A>G (p.Tyr190Cys) rs148584947
NM_005591.4(MRE11):c.56C>G (p.Thr19Arg)
NM_005591.4(MRE11):c.576G>C (p.Met192Ile)
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>G (p.Lys196Glu) rs1305804736
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) rs1472959295
NM_005591.4(MRE11):c.621G>C (p.Glu207Asp)
NM_005591.4(MRE11):c.62T>C (p.Ile21Thr) rs1475558133
NM_005591.4(MRE11):c.658A>C (p.Arg220=) rs764827899
NM_005591.4(MRE11):c.660-5T>C rs587781873
NM_005591.4(MRE11):c.668A>T (p.His223Leu) rs1170382104
NM_005591.4(MRE11):c.673A>C (p.Ser225Arg) rs763790530
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.707A>G (p.Asp236Gly)
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.722T>C (p.Val241Ala)
NM_005591.4(MRE11):c.729G>C (p.Trp243Cys) rs587782105
NM_005591.4(MRE11):c.730G>A (p.Gly244Ser)
NM_005591.4(MRE11):c.735T>G (p.His245Gln) rs2135047266
NM_005591.4(MRE11):c.739C>G (p.His247Asp) rs1591695290
NM_005591.4(MRE11):c.744G>C (p.Glu248Asp)
NM_005591.4(MRE11):c.74T>A (p.Phe25Tyr) rs1947266764
NM_005591.4(MRE11):c.74T>G (p.Phe25Cys) rs1947266764
NM_005591.4(MRE11):c.751A>G (p.Ile251Val) rs1298074499
NM_005591.4(MRE11):c.761C>T (p.Thr254Ile) rs864622495
NM_005591.4(MRE11):c.773A>C (p.Gln258Pro)
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) rs764146299
NM_005591.4(MRE11):c.802A>G (p.Ser268Gly) rs2135046452
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>A (p.Val280Ile) rs755762623
NM_005591.4(MRE11):c.845+4_845+7del rs1946711646
NM_005591.4(MRE11):c.845+8T>G rs375401639
NM_005591.4(MRE11):c.846-20T>G
NM_005591.4(MRE11):c.860T>C (p.Leu287Pro)
NM_005591.4(MRE11):c.868A>G (p.Lys290Glu)
NM_005591.4(MRE11):c.881T>G (p.Met294Arg) rs1591692940
NM_005591.4(MRE11):c.884A>G (p.Asn295Ser) rs1946681154
NM_005591.4(MRE11):c.890A>C (p.His297Pro) rs762144883
NM_005591.4(MRE11):c.898C>A (p.Pro300Thr)
NM_005591.4(MRE11):c.905A>C (p.His302Pro) rs587782042
NM_005591.4(MRE11):c.907A>G (p.Thr303Ala) rs2135040061
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) rs2135039602
NM_005591.4(MRE11):c.95G>A (p.Arg32Lys)
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.