ClinVar Miner

List of variants studied for ataxia-telangiectasia-like disorder 1 by Baylor Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 137
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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.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.311G>C (p.Ser104Thr) rs587780140 0.00011
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.1714C>T (p.Arg572Ter) rs137852761 0.00007
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.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.1015A>T (p.Lys339Ter) rs984874083 0.00004
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384 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.1091G>T (p.Arg364Leu) rs140528613 0.00003
NM_005591.4(MRE11):c.1508G>A (p.Arg503His) rs774057024 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.1163G>A (p.Arg388Gln) rs587780134 0.00002
NM_005591.4(MRE11):c.1253T>A (p.Ile418Asn) rs769500356 0.00002
NM_005591.4(MRE11):c.1753G>A (p.Ala585Thr) rs754790440 0.00002
NM_005591.4(MRE11):c.1867+2T>C rs745677716 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.402+1G>A rs929767929 0.00002
NM_005591.4(MRE11):c.545-13A>G rs370306271 0.00002
NM_005591.4(MRE11):c.545-1G>A rs1451215042 0.00002
NM_005591.4(MRE11):c.659+1G>A rs759130031 0.00002
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00002
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.1326+2T>G rs1475506136 0.00001
NM_005591.4(MRE11):c.1418T>C (p.Leu473Ser) rs771843497 0.00001
NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter) rs780001540 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.1897C>T (p.Arg633Ter) rs137852759 0.00001
NM_005591.4(MRE11):c.2070+2T>A rs786202801 0.00001
NM_005591.4(MRE11):c.2124A>G (p.Arg708=) rs138017560 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.315-2A>G rs876659145 0.00001
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760 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.1069C>T (p.Gln357Ter)
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter) rs371077728
NM_005591.4(MRE11):c.1098+1G>T
NM_005591.4(MRE11):c.1098+1del
NM_005591.4(MRE11):c.1100_1131del (p.Val367fs) rs1946499901
NM_005591.4(MRE11):c.1127del (p.Phe376fs)
NM_005591.4(MRE11):c.112G>T (p.Val38Leu) rs786202896
NM_005591.4(MRE11):c.1143del (p.Phe381fs) rs863224508
NM_005591.4(MRE11):c.1163G>C (p.Arg388Pro) rs587780134
NM_005591.4(MRE11):c.1180G>C (p.Asp394His) rs876658546
NM_005591.4(MRE11):c.1187del (p.Ile396fs)
NM_005591.4(MRE11):c.1195T>C (p.Phe399Leu) rs904951211
NM_005591.4(MRE11):c.1210C>T (p.Gln404Ter) rs1180352898
NM_005591.4(MRE11):c.123T>G (p.Asp41Glu) rs1398118094
NM_005591.4(MRE11):c.1252dup (p.Ile418fs) rs1555009931
NM_005591.4(MRE11):c.1288G>T (p.Glu430Ter)
NM_005591.4(MRE11):c.1326+2T>C
NM_005591.4(MRE11):c.1327-1del
NM_005591.4(MRE11):c.1356_1357del (p.Gly453fs)
NM_005591.4(MRE11):c.1441del (p.Thr481fs) rs747832587
NM_005591.4(MRE11):c.1441dup (p.Thr481fs)
NM_005591.4(MRE11):c.1458_1461del (p.Lys486fs)
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.1532dup (p.Asn511fs)
NM_005591.4(MRE11):c.1545del (p.Asp516fs)
NM_005591.4(MRE11):c.1596G>C (p.Gln532His)
NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs) rs876660186
NM_005591.4(MRE11):c.1724G>A (p.Gly575Asp) rs376555330
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter) rs774277300
NM_005591.4(MRE11):c.1744_1747dup (p.Asn583fs)
NM_005591.4(MRE11):c.1775G>A (p.Arg592Lys)
NM_005591.4(MRE11):c.1783+1G>A
NM_005591.4(MRE11):c.1798del (p.Glu600fs)
NM_005591.4(MRE11):c.1868-5T>C rs773911334
NM_005591.4(MRE11):c.1882A>T (p.Arg628Ter) rs1411087205
NM_005591.4(MRE11):c.1888C>T (p.Gln630Ter) rs2134840569
NM_005591.4(MRE11):c.1916A>C (p.Asn639Thr)
NM_005591.4(MRE11):c.1927-1G>T rs1295485913
NM_005591.4(MRE11):c.1927-2A>G rs587781822
NM_005591.4(MRE11):c.20+3A>G
NM_005591.4(MRE11):c.2029C>T (p.Gln677Ter)
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.229G>T (p.Glu77Ter) rs779269083
NM_005591.4(MRE11):c.233T>G (p.Leu78Ter)
NM_005591.4(MRE11):c.286G>C (p.Asp96His)
NM_005591.4(MRE11):c.314+1G>T
NM_005591.4(MRE11):c.314+4_314+7del
NM_005591.4(MRE11):c.315-1G>A
NM_005591.4(MRE11):c.323G>A (p.Trp108Ter)
NM_005591.4(MRE11):c.330del (p.Tyr111fs)
NM_005591.4(MRE11):c.470T>C (p.Met157Thr) rs1591707134
NM_005591.4(MRE11):c.504_511del (p.Leu169fs) rs786202253
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.571C>T (p.Arg191Ter) rs1157413766
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys) rs137852763
NM_005591.4(MRE11):c.673A>G (p.Ser225Gly) rs763790530
NM_005591.4(MRE11):c.690del (p.Glu231fs)
NM_005591.4(MRE11):c.701del (p.Leu234fs)
NM_005591.4(MRE11):c.771del (p.Glu257fs)
NM_005591.4(MRE11):c.775C>T (p.Gln259Ter) rs1060501788
NM_005591.4(MRE11):c.784del (p.Tyr262fs)
NM_005591.4(MRE11):c.788T>A (p.Ile263Asn) rs764146299
NM_005591.4(MRE11):c.820_821del (p.Leu274fs) rs1565228898
NM_005591.4(MRE11):c.846-2A>C rs1591693112
NM_005591.4(MRE11):c.923dup (p.Met309fs) rs587781828
NM_005591.4(MRE11):c.986C>A (p.Thr329Asn) rs370645480

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