ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 423
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HGVS dbSNP
NC_000011.10:g.(?_94420119)_(94437241_?)del
NC_000011.10:g.(?_94420125)_(94420191_?)del
NC_000011.10:g.94493859A>G
NC_000011.9:g.(?_94189432)_(94189514_?)del
NM_005590.4(MRE11):c.*570A>C rs397509346
NM_005590.4(MRE11):c.*630_*631TC[14] rs201800515
NM_005590.4(MRE11):c.*630_*631TC[16] rs201800515
NM_005590.4(MRE11):c.*630_*631TC[17] rs201800515
NM_005590.4(MRE11):c.*630_*631TC[18] rs201800515
NM_005590.4(MRE11):c.*630_*631TC[20] rs201800515
NM_005590.4(MRE11):c.*910dup rs886048753
NM_005590.4(MRE11):c.1202A>G (p.His401Arg) rs146779325
NM_005590.4(MRE11):c.120C>T (p.Leu40=) rs1805364
NM_005590.4(MRE11):c.123_125del (p.Asp41del) rs1555018284
NM_005590.4(MRE11):c.1783+1364T>G rs770184763
NM_005590.4(MRE11):c.1783+8C>G rs372784831
NM_005590.4(MRE11):c.1986+5del rs587782048
NM_005590.4(MRE11):c.2025_2033del (p.Leu675_Asn678delinsPhe) rs757822582
NM_005590.4(MRE11):c.247T>C (p.Cys83Arg) rs587782486
NM_005590.4(MRE11):c.293C>T (p.Ser98Leu) rs766453484
NM_005590.4(MRE11):c.52_54del (p.Ala18del) rs876658216
NM_005590.4(MRE11):c.59A>G (p.Asp20Gly) rs1565242083
NM_005590.4(MRE11):c.62T>C (p.Ile21Thr) rs1475558133
NM_005590.4(MRE11):c.734A>T (p.His245Leu) rs1555013153
NM_005590.4(MRE11):c.845+4A>C rs1182959968
NM_005590.4(MRE11):c.946A>G (p.Asn316Asp) rs767684060
NM_005590.4(MRE11):c.983_985dup (p.Thr329_Gln330insIle) rs1555012659
NM_005591.3(MRE11):c.*1086A>G rs886048752
NM_005591.3(MRE11):c.*1304A>T rs562083257
NM_005591.3(MRE11):c.*1366G>A rs146641719
NM_005591.3(MRE11):c.*1554C>G rs886048751
NM_005591.3(MRE11):c.*1661A>C rs539061083
NM_005591.3(MRE11):c.*2106T>C rs886048750
NM_005591.3(MRE11):c.*2178A>C rs886048749
NM_005591.3(MRE11):c.*2258G>C rs886048748
NM_005591.3(MRE11):c.*2296A>G rs886048747
NM_005591.3(MRE11):c.*2320T>C rs886048746
NM_005591.3(MRE11):c.*2452C>T rs574670712
NM_005591.3(MRE11):c.*2703A>G rs766297244
NM_005591.3(MRE11):c.*313G>A rs886048758
NM_005591.3(MRE11):c.*447T>G rs886048757
NM_005591.3(MRE11):c.*659_*660insTCTCTCTCCC rs373002609
NM_005591.3(MRE11):c.*659_*660insTCTCTCTCTCTCCC rs373002609
NM_005591.3(MRE11):c.*659_*660insTCTCTCTCTCTCTCCC rs373002609
NM_005591.3(MRE11):c.*660C>T rs591959
NM_005591.3(MRE11):c.*669C>G rs886048755
NM_005591.3(MRE11):c.*671C>T rs538218500
NM_005591.3(MRE11):c.*741A>G rs886048754
NM_005591.3(MRE11):c.*848A>G rs13447750
NM_005591.3(MRE11):c.-106+8C>T rs886048761
NM_005591.3(MRE11):c.-95A>G rs191426010
NM_005591.3(MRE11):c.1004T>C (p.Phe335Ser) rs1262089412
NM_005591.3(MRE11):c.1006T>A (p.Cys336Ser) rs1489951044
NM_005591.3(MRE11):c.1036A>G (p.Asn346Asp) rs756040379
NM_005591.3(MRE11):c.1045C>T (p.Arg349Trp) rs570102851
NM_005591.3(MRE11):c.1046G>A (p.Arg349Gln) rs864622683
NM_005591.3(MRE11):c.1051C>T (p.Arg351Cys) rs757492041
NM_005591.3(MRE11):c.1052G>A (p.Arg351His) rs587780133
NM_005591.3(MRE11):c.1058G>A (p.Gly353Asp) rs758816510
NM_005591.3(MRE11):c.106A>G (p.Thr36Ala) rs774330292
NM_005591.3(MRE11):c.1073C>A (p.Pro358Gln) rs1430351329
NM_005591.3(MRE11):c.107C>T (p.Thr36Met) rs768676557
NM_005591.3(MRE11):c.1082C>G (p.Pro361Arg) rs1591688182
NM_005591.3(MRE11):c.1087G>A (p.Val363Ile) rs1423143143
NM_005591.3(MRE11):c.1091G>T (p.Arg364Leu) rs140528613
NM_005591.3(MRE11):c.1097G>A (p.Arg366Gln) rs773968042
NM_005591.3(MRE11):c.1100T>G (p.Val367Gly) rs749526614
NM_005591.3(MRE11):c.1106A>G (p.Tyr369Cys) rs746283923
NM_005591.3(MRE11):c.1129A>G (p.Ser377Gly) rs754522007
NM_005591.3(MRE11):c.112G>T (p.Val38Leu) rs786202896
NM_005591.3(MRE11):c.1138C>T (p.Arg380Cys) rs766182900
NM_005591.3(MRE11):c.1139G>A (p.Arg380His) rs587781646
NM_005591.3(MRE11):c.1141T>C (p.Phe381Leu) rs767307692
NM_005591.3(MRE11):c.1145G>C (p.Ser382Thr) rs745769023
NM_005591.3(MRE11):c.1162C>T (p.Arg388Trp) rs375223186
NM_005591.3(MRE11):c.1163G>A (p.Arg388Gln) rs587780134
NM_005591.3(MRE11):c.1163G>C (p.Arg388Pro) rs587780134
NM_005591.3(MRE11):c.1165G>T (p.Val389Leu) rs876660518
NM_005591.3(MRE11):c.1183A>G (p.Ile395Val) rs775670175
NM_005591.3(MRE11):c.1187T>C (p.Ile396Thr) rs1555010863
NM_005591.3(MRE11):c.1190A>C (p.His397Pro) rs372657126
NM_005591.3(MRE11):c.1195T>A (p.Phe399Ile) rs904951211
NM_005591.3(MRE11):c.1200G>T (p.Arg400Ser) rs777004819
NM_005591.3(MRE11):c.1201C>G (p.His401Asp) rs876660542
NM_005591.3(MRE11):c.121G>C (p.Asp41His) rs116679717
NM_005591.3(MRE11):c.1225+10T>G rs863224734
NM_005591.3(MRE11):c.1226-6T>G rs772736856
NM_005591.3(MRE11):c.1226_1228delGAG rs587782089
NM_005591.3(MRE11):c.1233G>A (p.Glu411=) rs748756180
NM_005591.3(MRE11):c.1238A>G (p.Asn413Ser) rs587782457
NM_005591.3(MRE11):c.1243G>C (p.Gly415Arg) rs1591675029
NM_005591.3(MRE11):c.1259A>C (p.Lys420Thr) rs201153937
NM_005591.3(MRE11):c.1261C>T (p.Pro421Ser) rs1398359004
NM_005591.3(MRE11):c.1268A>C (p.Glu423Ala) rs1565221498
NM_005591.3(MRE11):c.1273A>T (p.Thr425Ser) rs1293831035
NM_005591.3(MRE11):c.1275A>C (p.Thr425=) rs749712745
NM_005591.3(MRE11):c.1280T>C (p.Leu427Ser) rs786203449
NM_005591.3(MRE11):c.1281A>T (p.Leu427Phe) rs1555009888
NM_005591.3(MRE11):c.1282A>G (p.Arg428Gly) rs1060501787
NM_005591.3(MRE11):c.1286T>C (p.Val429Ala) rs141293060
NM_005591.3(MRE11):c.1318G>A (p.Ala440Thr) rs773469981
NM_005591.3(MRE11):c.1318G>T (p.Ala440Ser) rs773469981
NM_005591.3(MRE11):c.1326+3A>G rs863224735
NM_005591.3(MRE11):c.1327-9A>T rs766573839
NM_005591.3(MRE11):c.1334A>G (p.Gln445Arg) rs371730091
NM_005591.3(MRE11):c.1369G>A (p.Ala457Thr) rs1555009409
NM_005591.3(MRE11):c.1403A>T (p.Asp468Val) rs1805367
NM_005591.3(MRE11):c.1404T>C (p.Asp468=) rs368144567
NM_005591.3(MRE11):c.1408A>G (p.Ile470Val) rs1555009360
NM_005591.3(MRE11):c.1418T>C (p.Leu473Ser) rs771843497
NM_005591.3(MRE11):c.1420G>A (p.Val474Met) rs778781414
NM_005591.3(MRE11):c.1421T>C (p.Val474Ala) rs1555009328
NM_005591.3(MRE11):c.1448G>A (p.Arg483Gln) rs587781378
NM_005591.3(MRE11):c.1456A>G (p.Lys486Glu) rs767896176
NM_005591.3(MRE11):c.1462C>G (p.Arg488Gly) rs375261439
NM_005591.3(MRE11):c.1462C>T (p.Arg488Cys) rs375261439
NM_005591.3(MRE11):c.1463G>A (p.Arg488His) rs145377856
NM_005591.3(MRE11):c.1466A>G (p.His489Arg) rs1212127220
NM_005591.3(MRE11):c.1478T>G (p.Leu493Arg) rs786203158
NM_005591.3(MRE11):c.1491C>T (p.Ile497=) rs199634245
NM_005591.3(MRE11):c.1496A>G (p.Glu499Gly) rs774145193
NM_005591.3(MRE11):c.1499A>T (p.Glu500Val) rs786203159
NM_005591.3(MRE11):c.1501-4C>G rs377584386
NM_005591.3(MRE11):c.1501-8T>A rs753131403
NM_005591.3(MRE11):c.1501-8T>G rs753131403
NM_005591.3(MRE11):c.1504C>T (p.Arg502Cys) rs186333183
NM_005591.3(MRE11):c.1507C>T (p.Arg503Cys) rs761458720
NM_005591.3(MRE11):c.1508G>A (p.Arg503His) rs774057024
NM_005591.3(MRE11):c.153+6T>C rs1591726473
NM_005591.3(MRE11):c.1545A>G (p.Glu515=) rs886048759
NM_005591.3(MRE11):c.1546G>C (p.Asp516His) rs1060501785
NM_005591.3(MRE11):c.1551T>G (p.Asp517Glu) rs1555008221
NM_005591.3(MRE11):c.1555G>T (p.Val519Phe) rs778116138
NM_005591.3(MRE11):c.1559G>A (p.Arg520His) rs753148077
NM_005591.3(MRE11):c.1563G>A (p.Glu521=) rs779250359
NM_005591.3(MRE11):c.1571C>G (p.Thr524Ser) rs876659237
NM_005591.3(MRE11):c.1574G>A (p.Arg525Lys) rs773275841
NM_005591.3(MRE11):c.1582G>A (p.Ala528Thr) rs780018393
NM_005591.3(MRE11):c.1622G>T (p.Ser541Ile) rs876660758
NM_005591.3(MRE11):c.1639A>C (p.Ser547Arg) rs786203665
NM_005591.3(MRE11):c.1642A>G (p.Ile548Val) rs876659165
NM_005591.3(MRE11):c.1643T>C (p.Ile548Thr) rs373522639
NM_005591.3(MRE11):c.1658A>C (p.Gln553Pro) rs1591655188
NM_005591.3(MRE11):c.1667A>G (p.Asn556Ser) rs144896235
NM_005591.3(MRE11):c.1673C>G (p.Ser558Cys) rs776688385
NM_005591.3(MRE11):c.1676A>G (p.Asp559Gly) rs786201666
NM_005591.3(MRE11):c.1687T>C (p.Ser563Pro) rs200950718
NM_005591.3(MRE11):c.1699A>G (p.Asn567Asp) rs778585671
NM_005591.3(MRE11):c.16G>A (p.Ala6Thr) rs1060501784
NM_005591.3(MRE11):c.16G>C (p.Ala6Pro) rs1060501784
NM_005591.3(MRE11):c.1715G>A (p.Arg572Gln) rs200085146
NM_005591.3(MRE11):c.1718G>A (p.Gly573Glu) rs587781461
NM_005591.3(MRE11):c.1718G>T (p.Gly573Val) rs587781461
NM_005591.3(MRE11):c.1724G>A (p.Gly575Asp) rs376555330
NM_005591.3(MRE11):c.1724G>T (p.Gly575Val) rs376555330
NM_005591.3(MRE11):c.1726C>G (p.Arg576Gly) rs774277300
NM_005591.3(MRE11):c.1731A>C (p.Arg577Ser) rs1591654959
NM_005591.3(MRE11):c.1732G>T (p.Gly578Cys) rs547793891
NM_005591.3(MRE11):c.1736G>A (p.Gly579Glu) rs757916109
NM_005591.3(MRE11):c.1741G>A (p.Gly581Arg) rs864622095
NM_005591.3(MRE11):c.1753G>A (p.Ala585Thr) rs754790440
NM_005591.3(MRE11):c.1757C>T (p.Ser586Leu) rs753717905
NM_005591.3(MRE11):c.1758G>A (p.Ser586=) rs766372720
NM_005591.3(MRE11):c.1762G>A (p.Gly588Arg) rs1555005282
NM_005591.3(MRE11):c.1763G>A (p.Gly588Glu) rs760676667
NM_005591.3(MRE11):c.1781G>A (p.Arg594Lys) rs1555005264
NM_005591.3(MRE11):c.1783+10G>C rs864622589
NM_005591.3(MRE11):c.1783+5G>C rs142082313
NM_005591.3(MRE11):c.1783+7A>G rs774520952
NM_005591.3(MRE11):c.1792G>C (p.Gly598Arg) rs587781951
NM_005591.3(MRE11):c.1798G>C (p.Glu600Gln) rs145415033
NM_005591.3(MRE11):c.1799A>G (p.Glu600Gly) rs1060501786
NM_005591.3(MRE11):c.1800G>T (p.Glu600Asp) rs1028566396
NM_005591.3(MRE11):c.1801A>C (p.Thr601Pro) rs1565211523
NM_005591.3(MRE11):c.1807A>G (p.Thr603Ala) rs751657849
NM_005591.3(MRE11):c.1808C>T (p.Thr603Ile) rs1060501789
NM_005591.3(MRE11):c.1810C>T (p.Arg604Cys) rs750926542
NM_005591.3(MRE11):c.1811G>A (p.Arg604His) rs148637964
NM_005591.3(MRE11):c.1811G>C (p.Arg604Pro) rs148637964
NM_005591.3(MRE11):c.181C>G (p.Leu61Val) rs786203268
NM_005591.3(MRE11):c.1834G>A (p.Val612Met) rs371719012
NM_005591.3(MRE11):c.1834G>C (p.Val612Leu) rs371719012
NM_005591.3(MRE11):c.1852A>G (p.Met618Val) rs375630981
NM_005591.3(MRE11):c.1853T>G (p.Met618Arg) rs748933763
NM_005591.3(MRE11):c.1858A>G (p.Ile620Val) rs144070976
NM_005591.3(MRE11):c.1861A>G (p.Ile621Val) rs373444411
NM_005591.3(MRE11):c.1868-4C>A rs768257868
NM_005591.3(MRE11):c.1875A>C (p.Lys625Asn) rs907660509
NM_005591.3(MRE11):c.1883G>A (p.Arg628Lys) rs587781835
NM_005591.3(MRE11):c.1892C>G (p.Pro631Arg) rs1555002427
NM_005591.3(MRE11):c.1898G>A (p.Arg633Gln) rs745614941
NM_005591.3(MRE11):c.18A>T (p.Ala6=) rs758314845
NM_005591.3(MRE11):c.1913A>T (p.Lys638Met) rs1591642491
NM_005591.3(MRE11):c.1918T>A (p.Tyr640Asn) rs864622429
NM_005591.3(MRE11):c.1926+4A>C rs876660210
NM_005591.3(MRE11):c.1937T>C (p.Val646Ala) rs1555002076
NM_005591.3(MRE11):c.1952T>A (p.Val651Glu) rs876660120
NM_005591.3(MRE11):c.1972A>G (p.Thr658Ala) rs587782756
NM_005591.3(MRE11):c.19C>G (p.Leu7Val) rs73517551
NM_005591.3(MRE11):c.19C>T (p.Leu7Phe) rs73517551
NM_005591.3(MRE11):c.20+8C>A rs766581183
NM_005591.3(MRE11):c.2023A>T (p.Met675Leu) rs756418071
NM_005591.3(MRE11):c.2024T>C (p.Met675Thr) rs1173614760
NM_005591.3(MRE11):c.202T>C (p.Ser68Pro) rs1555017253
NM_005591.3(MRE11):c.2033G>A (p.Ser678Asn) rs781684108
NM_005591.3(MRE11):c.2042C>G (p.Ser681Trp) rs587782166
NM_005591.3(MRE11):c.2042C>T (p.Ser681Leu) rs587782166
NM_005591.3(MRE11):c.2050G>C (p.Val684Leu) rs765958437
NM_005591.3(MRE11):c.2053G>T (p.Asp685Tyr) rs864622186
NM_005591.3(MRE11):c.2054A>G (p.Asp685Gly) rs554399982
NM_005591.3(MRE11):c.2065A>C (p.Ser689Arg) rs1591633806
NM_005591.3(MRE11):c.2076T>A (p.Asp692Glu) rs778093337
NM_005591.3(MRE11):c.2086C>T (p.Pro696Ser) rs876659349
NM_005591.3(MRE11):c.2096A>G (p.Asn699Ser) rs876660153
NM_005591.3(MRE11):c.2099C>G (p.Thr700Ser) rs374685908
NM_005591.3(MRE11):c.21-6_26del rs587780138
NM_005591.3(MRE11):c.2113A>G (p.Arg705Gly) rs755681342
NM_005591.3(MRE11):c.2117A>G (p.Asn706Ser) rs1591621080
NM_005591.3(MRE11):c.218A>G (p.His73Arg) rs769313864
NM_005591.3(MRE11):c.230A>T (p.Glu77Val) rs1060501791
NM_005591.3(MRE11):c.231G>T (p.Glu77Asp) rs755553376
NM_005591.3(MRE11):c.239G>T (p.Arg80Ile) rs587782472
NM_005591.3(MRE11):c.244T>C (p.Tyr82His) rs587781343
NM_005591.3(MRE11):c.250A>G (p.Met84Val) rs786203222
NM_005591.3(MRE11):c.256G>A (p.Asp86Asn) rs763902512
NM_005591.3(MRE11):c.259C>T (p.Arg87Trp) rs758112386
NM_005591.3(MRE11):c.260G>A (p.Arg87Gln) rs752585966
NM_005591.3(MRE11):c.274G>A (p.Glu92Lys) rs587780139
NM_005591.3(MRE11):c.28G>A (p.Glu10Lys) rs756308200
NM_005591.3(MRE11):c.299A>C (p.Asn100Thr) rs1270616264
NM_005591.3(MRE11):c.302T>A (p.Phe101Tyr) rs1555017179
NM_005591.3(MRE11):c.305G>T (p.Gly102Val) rs199736271
NM_005591.3(MRE11):c.311G>C (p.Ser104Thr) rs587780140
NM_005591.3(MRE11):c.314+6T>C rs864622413
NM_005591.3(MRE11):c.314A>C (p.Lys105Thr) rs1025272236
NM_005591.3(MRE11):c.323G>C (p.Trp108Ser) rs1216591891
NM_005591.3(MRE11):c.32A>G (p.Asn11Ser) rs1555018337
NM_005591.3(MRE11):c.331T>G (p.Tyr111Asp) rs1555015455
NM_005591.3(MRE11):c.337G>A (p.Asp113Asn) rs876659042
NM_005591.3(MRE11):c.33C>A (p.Asn11Lys) rs746088302
NM_005591.3(MRE11):c.358A>G (p.Ile120Val) rs372131911
NM_005591.3(MRE11):c.365T>G (p.Val122Gly) rs1565234530
NM_005591.3(MRE11):c.37T>C (p.Phe13Leu) rs149101834
NM_005591.3(MRE11):c.388G>A (p.Asp130Asn) rs1591708529
NM_005591.3(MRE11):c.391G>A (p.Asp131Asn) rs368403414
NM_005591.3(MRE11):c.391G>T (p.Asp131Tyr) rs368403414
NM_005591.3(MRE11):c.402G>C (p.Gly134=) rs587782669
NM_005591.3(MRE11):c.423G>A (p.Leu141=) rs199540078
NM_005591.3(MRE11):c.426C>T (p.Asp142=) rs3218740
NM_005591.3(MRE11):c.44T>C (p.Ile15Thr) rs758942894
NM_005591.3(MRE11):c.454C>T (p.His152Tyr) rs876659023
NM_005591.3(MRE11):c.463C>T (p.Arg155Cys) rs587782512
NM_005591.3(MRE11):c.464G>A (p.Arg155His) rs587780141
NM_005591.3(MRE11):c.469A>G (p.Met157Val) rs147771140
NM_005591.3(MRE11):c.475G>A (p.Val159Met) rs864622344
NM_005591.3(MRE11):c.476T>C (p.Val159Ala) rs140130291
NM_005591.3(MRE11):c.485T>C (p.Ile162Thr) rs150656288
NM_005591.3(MRE11):c.488A>C (p.Asp163Ala) rs1060501783
NM_005591.3(MRE11):c.49G>A (p.Val17Ile) rs1060501790
NM_005591.3(MRE11):c.49G>C (p.Val17Leu) rs1060501790
NM_005591.3(MRE11):c.508C>A (p.Gln170Lys) rs587782030
NM_005591.3(MRE11):c.526A>G (p.Ile176Val) rs587781676
NM_005591.3(MRE11):c.529G>A (p.Ala177Thr) rs142996063
NM_005591.3(MRE11):c.530C>T (p.Ala177Val) rs773766504
NM_005591.3(MRE11):c.534A>G (p.Leu178=) rs374635285
NM_005591.3(MRE11):c.535T>C (p.Tyr179His) rs864622308
NM_005591.3(MRE11):c.544+5G>T rs564688936
NM_005591.3(MRE11):c.545-13A>G rs370306271
NM_005591.3(MRE11):c.585T>C (p.Asn195=) rs886048760
NM_005591.3(MRE11):c.587A>G (p.Lys196Arg) rs376895161
NM_005591.3(MRE11):c.611A>G (p.Lys204Arg) rs876659107
NM_005591.3(MRE11):c.626C>T (p.Ser209Phe) rs1555014479
NM_005591.3(MRE11):c.634A>G (p.Asn212Asp) rs754184272
NM_005591.3(MRE11):c.640T>C (p.Phe214Leu) rs750929369
NM_005591.3(MRE11):c.653A>G (p.Gln218Arg) rs587780144
NM_005591.3(MRE11):c.661A>C (p.Ser221Arg) rs587781272
NM_005591.3(MRE11):c.673A>C (p.Ser225Arg) rs763790530
NM_005591.3(MRE11):c.677C>G (p.Thr226Ser) rs201276188
NM_005591.3(MRE11):c.677C>T (p.Thr226Ile) rs201276188
NM_005591.3(MRE11):c.681C>G (p.Asn227Lys) rs1490100562
NM_005591.3(MRE11):c.689C>T (p.Pro230Leu) rs185439615
NM_005591.3(MRE11):c.6T>A (p.Ser2Arg) rs777751367
NM_005591.3(MRE11):c.715G>C (p.Asp239His) rs1258698614
NM_005591.3(MRE11):c.718C>G (p.Leu240Val) rs786203969
NM_005591.3(MRE11):c.740A>G (p.His247Arg) rs876659322
NM_005591.3(MRE11):c.758C>T (p.Pro253Leu) rs587782051
NM_005591.3(MRE11):c.761C>T (p.Thr254Ile) rs864622495
NM_005591.3(MRE11):c.775C>G (p.Gln259Glu) rs1060501788
NM_005591.3(MRE11):c.777G>A (p.Gln259=) rs774144789
NM_005591.3(MRE11):c.77T>C (p.Met26Thr) rs372068015
NM_005591.3(MRE11):c.7A>G (p.Thr3Ala) rs876658926
NM_005591.3(MRE11):c.818C>G (p.Ser273Cys) rs143400546
NM_005591.3(MRE11):c.822T>C (p.Leu274=) rs137868143
NM_005591.3(MRE11):c.826C>T (p.Pro276Ser) rs587782742
NM_005591.3(MRE11):c.835G>C (p.Ala279Pro) rs147383852
NM_005591.3(MRE11):c.848A>G (p.His283Arg) rs142727857
NM_005591.3(MRE11):c.862C>T (p.Arg288Cys) rs753958669
NM_005591.3(MRE11):c.863G>A (p.Arg288His) rs190142346
NM_005591.3(MRE11):c.880A>G (p.Met294Val) rs786202636
NM_005591.3(MRE11):c.908C>T (p.Thr303Ile) rs1222130330
NM_005591.3(MRE11):c.909A>G (p.Thr303=) rs780867675
NM_005591.3(MRE11):c.913C>T (p.Arg305Trp) rs372000848
NM_005591.3(MRE11):c.914G>A (p.Arg305Gln) rs752483206
NM_005591.3(MRE11):c.940C>T (p.Leu314=) rs368362407
NM_005591.3(MRE11):c.958A>C (p.Ile320Leu) rs762210984
NM_005591.3(MRE11):c.970G>C (p.Asp324His) rs1591692518
NM_005591.3(MRE11):c.971A>G (p.Asp324Gly) rs763563427
NM_005591.3(MRE11):c.981A>G (p.Lys327=) rs587782569
NM_005591.3(MRE11):c.983T>G (p.Val328Gly) rs587782314
NM_005591.3(MRE11):c.986C>A (p.Thr329Asn) rs370645480
NM_005591.3(MRE11):c.986C>G (p.Thr329Ser) rs370645480
NM_005591.4(MRE11):c.*1082T>C
NM_005591.4(MRE11):c.*1174C>T
NM_005591.4(MRE11):c.*1704G>A
NM_005591.4(MRE11):c.*1776C>T rs104895005
NM_005591.4(MRE11):c.*1900C>T
NM_005591.4(MRE11):c.*1933G>T rs104895004
NM_005591.4(MRE11):c.*193T>C
NM_005591.4(MRE11):c.*2170A>T
NM_005591.4(MRE11):c.*2324G>T
NM_005591.4(MRE11):c.*2531A>T
NM_005591.4(MRE11):c.*2658A>G
NM_005591.4(MRE11):c.*2700C>T
NM_005591.4(MRE11):c.*2704G>C
NM_005591.4(MRE11):c.*429A>G
NM_005591.4(MRE11):c.*593A>C
NM_005591.4(MRE11):c.*656T>C rs104895009
NM_005591.4(MRE11):c.*658T>C
NM_005591.4(MRE11):c.*672G>A
NM_005591.4(MRE11):c.*740G>A
NM_005591.4(MRE11):c.*760G>A
NM_005591.4(MRE11):c.*877A>G
NM_005591.4(MRE11):c.*973A>G
NM_005591.4(MRE11):c.*974C>G
NM_005591.4(MRE11):c.-106+11A>G
NM_005591.4(MRE11):c.-42G>A
NM_005591.4(MRE11):c.100A>T (p.Asn34Tyr)
NM_005591.4(MRE11):c.1034A>G (p.Glu345Gly) rs1224864635
NM_005591.4(MRE11):c.1084C>G (p.Leu362Val)
NM_005591.4(MRE11):c.1099-6T>A
NM_005591.4(MRE11):c.1124C>A (p.Pro375His)
NM_005591.4(MRE11):c.112G>C (p.Val38Leu)
NM_005591.4(MRE11):c.1130G>A (p.Ser377Asn) rs753536984
NM_005591.4(MRE11):c.1138C>A (p.Arg380Ser)
NM_005591.4(MRE11):c.1152A>G (p.Lys384=)
NM_005591.4(MRE11):c.1166T>A (p.Val389Glu) rs1591680946
NM_005591.4(MRE11):c.118C>T (p.Leu40Phe)
NM_005591.4(MRE11):c.1204A>G (p.Arg402Gly)
NM_005591.4(MRE11):c.1219A>C (p.Lys407Gln)
NM_005591.4(MRE11):c.123T>G (p.Asp41Glu) rs1398118094
NM_005591.4(MRE11):c.1244G>A (p.Gly415Glu)
NM_005591.4(MRE11):c.1259A>G (p.Lys420Arg)
NM_005591.4(MRE11):c.1312C>G (p.Gln438Glu) rs754078280
NM_005591.4(MRE11):c.1325A>G (p.Lys442Arg)
NM_005591.4(MRE11):c.1372G>A (p.Val458Ile)
NM_005591.4(MRE11):c.1389C>G (p.Asp463Glu)
NM_005591.4(MRE11):c.140C>T (p.Ala47Val) rs730880378
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016
NM_005591.4(MRE11):c.1501-10T>A
NM_005591.4(MRE11):c.154-11C>G
NM_005591.4(MRE11):c.1545A>T (p.Glu515Asp)
NM_005591.4(MRE11):c.1547A>T (p.Asp516Val)
NM_005591.4(MRE11):c.154G>C (p.Val52Leu)
NM_005591.4(MRE11):c.1589G>A (p.Arg530Lys)
NM_005591.4(MRE11):c.1629T>A (p.Asp543Glu)
NM_005591.4(MRE11):c.1713_1718del (p.569GR[3])
NM_005591.4(MRE11):c.1729A>G (p.Arg577Gly) rs1200372640
NM_005591.4(MRE11):c.1734_1742del (p.Gly579_Gly581del)
NM_005591.4(MRE11):c.1745A>G (p.Gln582Arg)
NM_005591.4(MRE11):c.1766G>A (p.Gly589Glu)
NM_005591.4(MRE11):c.1789A>G (p.Thr597Ala)
NM_005591.4(MRE11):c.1850A>C (p.Asn617Thr)
NM_005591.4(MRE11):c.1850A>G (p.Asn617Ser)
NM_005591.4(MRE11):c.1855T>G (p.Ser619Ala)
NM_005591.4(MRE11):c.187C>T (p.His63Tyr)
NM_005591.4(MRE11):c.1903G>A (p.Val635Ile)
NM_005591.4(MRE11):c.190G>A (p.Glu64Lys)
NM_005591.4(MRE11):c.1910C>G (p.Thr637Ser)
NM_005591.4(MRE11):c.1948G>C (p.Asp650His)
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442
NM_005591.4(MRE11):c.1972A>C (p.Thr658Pro)
NM_005591.4(MRE11):c.1994+3A>C rs939310557
NM_005591.4(MRE11):c.1994+3A>G
NM_005591.4(MRE11):c.2023A>G (p.Met675Val) rs756418071
NM_005591.4(MRE11):c.2024T>G (p.Met675Arg)
NM_005591.4(MRE11):c.2026T>G (p.Ser676Ala)
NM_005591.4(MRE11):c.2048G>A (p.Gly683Glu) rs764705257
NM_005591.4(MRE11):c.2066G>A (p.Ser689Asn)
NM_005591.4(MRE11):c.2070+2T>A rs786202801
NM_005591.4(MRE11):c.2071G>A (p.Asp691Asn) rs576011802
NM_005591.4(MRE11):c.2071GAT[6] (p.Asp695dup) rs779409748
NM_005591.4(MRE11):c.2109A>C (p.Leu703Phe)
NM_005591.4(MRE11):c.217C>T (p.His73Tyr)
NM_005591.4(MRE11):c.283A>G (p.Ser95Gly)
NM_005591.4(MRE11):c.304_305delinsAC (p.Gly102Thr)
NM_005591.4(MRE11):c.305G>C (p.Gly102Ala)
NM_005591.4(MRE11):c.332A>G (p.Tyr111Cys)
NM_005591.4(MRE11):c.343A>G (p.Asn115Asp)
NM_005591.4(MRE11):c.389A>G (p.Asp130Gly)
NM_005591.4(MRE11):c.38T>G (p.Phe13Cys) rs1188101971
NM_005591.4(MRE11):c.434G>T (p.Ser145Ile)
NM_005591.4(MRE11):c.482A>G rs587782294
NM_005591.4(MRE11):c.484A>T (p.Ile162Leu)
NM_005591.4(MRE11):c.572G>A (p.Arg191Gln) rs746932208
NM_005591.4(MRE11):c.579T>G (p.Phe193Leu) rs1228609222
NM_005591.4(MRE11):c.581T>C (p.Val194Ala)
NM_005591.4(MRE11):c.596C>T (p.Thr199Ile)
NM_005591.4(MRE11):c.598A>G (p.Met200Val)
NM_005591.4(MRE11):c.660-6A>G
NM_005591.4(MRE11):c.671G>A (p.Gly224Glu) rs749446968
NM_005591.4(MRE11):c.679A>G (p.Asn227Asp) rs1591695560
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.716A>T (p.Asp239Val)
NM_005591.4(MRE11):c.721G>C (p.Val241Leu)
NM_005591.4(MRE11):c.74T>G (p.Phe25Cys)
NM_005591.4(MRE11):c.778C>G (p.Leu260Val)
NM_005591.4(MRE11):c.802A>G (p.Ser268Gly)
NM_005591.4(MRE11):c.820C>G (p.Leu274Val) rs1555013057
NM_005591.4(MRE11):c.845+4_845+7del
NM_005591.4(MRE11):c.884A>G (p.Asn295Ser)
NM_005591.4(MRE11):c.905A>C (p.His302Pro)

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