ClinVar Miner

List of variants reported as pathogenic for aplastic anemia by Invitae

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 578
Download table as spreadsheet
HGVS dbSNP
NC_000001.11:g.(?_23691814)_(23696383_?)del
NC_000001.11:g.(?_23691824)_(23696373_?)del
NC_000001.11:g.(?_23695788)_(23696383_?)del
NC_000001.11:g.(?_43349253)_(43349369_?)del
NC_000001.11:g.(?_92832109)_(92833666_?)del
NC_000002.12:g.(?_58159755)_(58241323_?)del
NC_000003.12:g.(?_10028648)_(10043874_?)del
NC_000003.12:g.(?_10028648)_(10046733_?)del
NC_000003.12:g.(?_10064723)_(10146642_?)del
NC_000003.12:g.(?_197950958)_(197955783_?)del
NC_000003.12:g.(?_197950962)_(197955779_?)del
NC_000009.12:g.(?_35076714)_(35077111_?)del
NC_000009.12:g.(?_95101700)_(95508367_?)del
NC_000009.12:g.(?_95101707)_(95317709_?)del
NC_000009.12:g.(?_95114619)_(95114720_?)del
NC_000009.12:g.(?_95135336)_(95135512_?)del
NC_000009.12:g.(?_95135336)_(95249379_?)del
NC_000009.12:g.(?_95149913)_(95172157_?)del
NC_000009.12:g.(?_95240639)_(95240753_?)del
NC_000010.11:g.(?_78033902)_(78033914_?)del
NC_000014.9:g.(?_45136032)_(45200008_?)del
NC_000014.9:g.(?_45166940)_(45167173_?)del
NC_000015.10:g.(?_89247629)_(89317131_?)del
NC_000016.10:g.(?_13920156)_(13948357_?)del
NC_000016.10:g.(?_13928022)_(13928241_?)del
NC_000016.10:g.(?_3606464)_(3608974_?)del
NC_000016.10:g.(?_3608430)_(3609566_?)del
NC_000016.10:g.(?_89738591)_(89742948_?)del
NC_000016.10:g.(?_89738591)_(89762032_?)del
NC_000016.10:g.(?_89738591)_(89811081_?)del
NC_000016.10:g.(?_89738591)_(89816625_?)del
NC_000016.10:g.(?_89738591)_(89920222_?)del
NC_000016.10:g.(?_89744949)_(89767247_?)del
NC_000016.10:g.(?_89748641)_(89758720_?)del
NC_000016.10:g.(?_89748641)_(89765076_?)del
NC_000016.10:g.(?_89748649)_(89758715_?)del
NC_000016.10:g.(?_89748649)_(89765076_?)del
NC_000016.10:g.(?_89752128)_(89792557_?)del
NC_000016.10:g.(?_89752128)_(89808377_?)del
NC_000016.10:g.(?_89752128)_(89816625_?)del
NC_000016.10:g.(?_89752138)_(89792547_?)del
NC_000016.10:g.(?_89758567)_(89784974_?)del
NC_000016.10:g.(?_89758567)_(89808377_?)del
NC_000016.10:g.(?_89758571)_(89784970_?)del
NC_000016.10:g.(?_89761939)_(89762032_?)del
NC_000016.10:g.(?_89761939)_(89765076_?)del
NC_000016.10:g.(?_89761939)_(89816616_?)del
NC_000016.10:g.(?_89761943)_(89920218_?)del
NC_000016.10:g.(?_89764807)_(89773394_?)del
NC_000016.10:g.(?_89764807)_(89775825_?)del
NC_000016.10:g.(?_89764807)_(89805402_?)del
NC_000016.10:g.(?_89764880)_(89773394_?)del
NC_000016.10:g.(?_89767131)_(89784974_?)del
NC_000016.10:g.(?_89767131)_(89799648_?)del
NC_000016.10:g.(?_89767135)_(89816621_?)del
NC_000016.10:g.(?_89775732)_(89808377_?)del
NC_000016.10:g.(?_89775736)_(89775821_?)del
NC_000016.10:g.(?_89778791)_(89779967_?)del
NC_000016.10:g.(?_89778791)_(89816625_?)del
NC_000016.10:g.(?_89782849)_(89784974_?)del
NC_000016.10:g.(?_89782849)_(89796028_?)del
NC_000016.10:g.(?_89782853)_(89784970_?)del
NC_000016.10:g.(?_89784844)_(89784974_?)del
NC_000016.10:g.(?_89791393)_(89796028_?)del
NC_000016.10:g.(?_89791393)_(89811081_?)del
NC_000016.10:g.(?_89791393)_(89816625_?)del
NC_000016.10:g.(?_89791397)_(89792553_?)del
NC_000016.10:g.(?_89791402)_(89816615_?)del
NC_000016.10:g.(?_89791403)_(89796018_?)del
NC_000016.10:g.(?_89798246)_(89799648_?)del
NC_000016.10:g.(?_89799156)_(89799648_?)del
NC_000016.10:g.(?_89803249)_(89808377_?)del
NC_000016.10:g.(?_89803249)_(89811081_?)del
NC_000016.10:g.(?_89803249)_(89816625_?)del
NC_000016.10:g.(?_89808284)_(89816616_?)del
NC_000016.10:g.(?_89808284)_(89816625_?)del
NC_000016.10:g.(?_89810697)_(89816616_?)del
NC_000016.10:g.(?_89810697)_(89816625_?)del
NC_000016.10:g.(?_89810701)_(89816621_?)del
NC_000016.10:g.(?_89814510)_(89816625_?)del
NC_000016.10:g.(?_89814514)_(89816621_?)del
NC_000016.10:g.(?_89815867)_(89816625_?)del
NC_000016.9:g.(?_89831292)_(89833651_?)del
NC_000016.9:g.89871693_89878808del
NC_000017.10:g.(?_56769999)_(56787357_?)del
NC_000017.11:g.(?_58692625)_(58710000_?)del
NC_000017.11:g.(?_58692625)_(58734222_?)del
NC_000017.11:g.(?_58692634)_(58692798_?)del
NC_000017.11:g.(?_58692634)_(58703339_?)del
NC_000017.11:g.(?_58692634)_(58710000_?)del
NC_000017.11:g.(?_58692634)_(58734232_?)del
NC_000017.11:g.(?_58692638)_(58734228_?)del
NC_000017.11:g.(?_58696687)_(58696865_?)del
NC_000017.11:g.(?_58703186)_(58703339_?)del
NC_000017.11:g.(?_58703186)_(58734222_?)del
NC_000017.11:g.(?_58703186)_(58734232_?)del
NC_000017.11:g.(?_58703196)_(58709990_?)del
NC_000017.11:g.(?_58709849)_(58734222_?)del
NC_000017.11:g.(?_58709849)_(58734232_?)del
NC_000017.11:g.(?_58720736)_(58734222_?)del
NC_000017.11:g.(?_58720736)_(58734232_?)del
NC_000017.11:g.(?_58720736)_(58734352_?)del
NC_000017.11:g.(?_58720740)_(58720818_?)del
NC_000017.11:g.(?_58720740)_(58724106_?)del
NC_000017.11:g.(?_58720746)_(58734342_?)del
NC_000017.11:g.(?_58732474)_(58734222_?)del
NC_000017.11:g.(?_58732474)_(58734232_?)del
NC_000017.11:g.(?_61683286)_(61693522_?)del
NC_000017.11:g.(?_61683286)_(61716073_?)del
NC_000017.11:g.(?_61683290)_(61684146_?)del
NC_000017.11:g.(?_61683296)_(61716073_?)del
NC_000017.11:g.(?_61715941)_(61716073_?)del
NC_000017.11:g.(?_61715941)_(61808767_?)del
NC_000017.11:g.(?_61743007)_(61808763_?)del
NC_000017.11:g.(?_61744422)_(61744601_?)del
NC_000017.11:g.(?_61776391)_(61808767_?)del
NC_000017.11:g.(?_61776395)_(61801480_?)del
NC_000017.11:g.(?_61776395)_(61861545_?)del
NC_000017.11:g.(?_61799090)_(61801484_?)del
NC_000017.11:g.(?_61847091)_(61849266_?)del
NC_000017.11:g.(?_61847091)_(61861549_?)del
NC_000017.11:g.(?_61847101)_(61849256_?)del
NC_000017.11:g.(?_61857048)_(61861539_?)del
NC_000017.11:g.(?_61857048)_(61861549_?)del
NC_000017.11:g.(?_61857052)_(61861545_?)del
NC_000017.11:g.(?_61859786)_(61861549_?)del
NC_000017.11:g.(?_7669603)_(8382316_?)del
NC_000019.9:g.(?_42373091)_(42375455_?)del
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.3(FANCA):c.(?_-1)_522+?del
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter)
NM_000135.4(FANCA):c.1028_1029AG[3] (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1111_1114TTGG[1] (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter) rs752864343
NM_000135.4(FANCA):c.1202del (p.Pro401fs)
NM_000135.4(FANCA):c.1226-2A>G rs773906241
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
NM_000135.4(FANCA):c.1318G>T (p.Glu440Ter)
NM_000135.4(FANCA):c.1433C>G (p.Ser478Ter)
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1630dup (p.His544fs) rs1598129626
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1809dup (p.Ile604fs) rs1343140664
NM_000135.4(FANCA):c.1812_1813AG[1] (p.Glu605fs) rs759899153
NM_000135.4(FANCA):c.1824dup (p.Arg609fs) rs1598127082
NM_000135.4(FANCA):c.1827-1G>A rs555449842
NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter) rs1060501878
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647
NM_000135.4(FANCA):c.207T>A (p.Cys69Ter)
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.217_218TC[2] (p.Leu74fs)
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter) rs761725308
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2529_2530CT[3] (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265
NM_000135.4(FANCA):c.2546del (p.Ser849fs) rs1060501876
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.4(FANCA):c.2587_2588dup (p.Leu864fs) rs1567616135
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2600del (p.Lys867fs)
NM_000135.4(FANCA):c.2638C>T (p.Arg880Ter)
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter)
NM_000135.4(FANCA):c.2722_2723CT[4] (p.Trp911fs) rs878853663
NM_000135.4(FANCA):c.2735_2736CA[2] (p.His913fs) rs1186669727
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.2778+1G>A rs140180549
NM_000135.4(FANCA):c.2786del (p.Tyr929fs)
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.283+3A>C rs786204204
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289
NM_000135.4(FANCA):c.294_295delinsTT (p.Leu98_Gln99delinsPheTer) rs1598191053
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800
NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter) rs1555538740
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) rs1166286386
NM_000135.4(FANCA):c.319del (p.Val107fs)
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3264_3267del (p.Val1089fs)
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter) rs777825824
NM_000135.4(FANCA):c.3349-1G>A rs769862233
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.3400_3402TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3517_3519TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter) rs1598067532
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs)
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712
NM_000135.4(FANCA):c.3755_3756AG[5] (p.Glu1255fs) rs868273545
NM_000135.4(FANCA):c.3913_3914CT[1] (p.Phe1306fs)
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs)
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309
NM_000135.4(FANCA):c.401dup (p.Val135fs) rs1555575253
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390
NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter)
NM_000135.4(FANCA):c.414_415TG[1] (p.Val139fs) rs864622188
NM_000135.4(FANCA):c.4168-2A>G
NM_000135.4(FANCA):c.418G>T (p.Glu140Ter)
NM_000135.4(FANCA):c.4261-2A>G
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter) rs1598184500
NM_000135.4(FANCA):c.641_642TG[1] (p.Cys215fs) rs1338138752
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000135.4(FANCA):c.664G>T (p.Glu222Ter)
NM_000135.4(FANCA):c.709+5G>A rs759877008
NM_000135.4(FANCA):c.710-5T>C
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter) rs1353992080
NM_000135.4(FANCA):c.793-1G>C
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796
NM_000135.4(FANCA):c.912_913AC[2] (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.91A>T (p.Lys31Ter)
NM_000135.4(FANCA):c.97del (p.Glu33fs) rs786204238
NM_000135.4(FANCA):c.983_986TCAC[1] (p.His330fs) rs772359099
NM_000136.2(FANCC):c.-78-?_250+?del
NM_000136.2(FANCC):c.997-?_1154+?del
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.1257del (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709
NM_000136.3(FANCC):c.1312_1329+68dup rs1554829415
NM_000136.3(FANCC):c.1385_1386TC[1] (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs) rs1564641485
NM_000136.3(FANCC):c.139A>T (p.Lys47Ter)
NM_000136.3(FANCC):c.140_143dup (p.Met48fs)
NM_000136.3(FANCC):c.1428_1429CA[1] (p.Thr477fs) rs1588029220
NM_000136.3(FANCC):c.1533+1G>T
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter) rs867319477
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.251-2A>G rs1057517219
NM_000136.3(FANCC):c.29dup (p.Cys10fs) rs878853671
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291
NM_000136.3(FANCC):c.353T>G (p.Leu118Ter)
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.389_390del (p.Glu130fs) rs1564720605
NM_000136.3(FANCC):c.451A>T (p.Lys151Ter)
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.485_486GA[1] (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.485_486GA[2] (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.485dup (p.Glu163fs) rs1554842611
NM_000136.3(FANCC):c.507del (p.Phe169fs) rs1588218493
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.847C>T (p.Gln283Ter)
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter) rs776529713
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter)
NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter) rs1060503527
NM_000969.5(RPL5):c.157_169dup (p.Asn57fs) rs1571024385
NM_000969.5(RPL5):c.15dup (p.Val6fs)
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_000969.5(RPL5):c.173_174GA[1] (p.Asp59fs) rs1571024430
NM_000969.5(RPL5):c.187C>T (p.Gln63Ter) rs1558284062
NM_000969.5(RPL5):c.256dup (p.Tyr86fs) rs1553121909
NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter) rs148673599
NM_000969.5(RPL5):c.70C>T (p.Arg24Ter) rs1558283853
NM_000969.5(RPL5):c.9_12del (p.Phe3fs)
NM_000975.5(RPL11):c.111del (p.Lys38fs) rs1553121684
NM_000975.5(RPL11):c.160dup (p.Arg54fs)
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.508-2A>G rs1570569383
NM_000975.5(RPL11):c.62_63del (p.Cys21fs) rs1570566592
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs) rs1560120302
NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter) rs1553811551
NM_001014.5(RPS10):c.285_292del (p.Arg96fs) rs1581931439
NM_001022.4(RPS19):c.13dup (p.Thr5fs)
NM_001022.4(RPS19):c.173-2A>G rs111833764
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) rs104894711
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln) rs1555841301
NM_001022.4(RPS19):c.294_295TG[3] (p.Ala100fs) rs1555841356
NM_001022.4(RPS19):c.384_385del (p.Asp130fs) rs869066130
NM_001022.4(RPS19):c.3G>A (p.Met1Ile)
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001113378.1(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873
NM_001113378.1(FANCI):c.2422A>T (p.Lys808Ter) rs375656231
NM_001113378.1(FANCI):c.3780T>A (p.Tyr1260Ter) rs1060501900
NM_001113378.1(FANCI):c.507G>A (p.Trp169Ter) rs878854181
NM_001113378.2(FANCI):c.1674_1690del (p.Ser559fs)
NM_001113378.2(FANCI):c.876_879del (p.His292fs)
NM_001114636.1(FANCL):c.211C>T (p.Gln71Ter) rs753105795
NM_001114636.1(FANCL):c.40dup (p.Leu14fs) rs761039364
NM_001114636.1(FANCL):c.426_438del (p.Asp142fs) rs878855046
NM_001114636.1(FANCL):c.770_773TCTT[1] (p.Phe258fs) rs1553435610
NM_001142283.1(RPS24):c.13_14del (p.Val5fs) rs1589326484
NM_001142283.1(RPS24):c.1A>G (p.Met1Val) rs886039545
NM_001142283.1(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_002049.3(GATA1):c.166_187dup (p.Tyr63fs) rs1602219139
NM_002049.3(GATA1):c.21del (p.Ser8fs) rs1557020001
NM_002049.3(GATA1):c.5_8dup (p.Phe3fs) rs1602218917
NM_002049.3(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002049.3(GATA1):c.94dup (p.Val32fs) rs1569499310
NM_002049.4(GATA1):c.98dup (p.Phe34fs)
NM_004629.1(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.1(FANCG):c.1077-2A>G rs769547477
NM_004629.1(FANCG):c.1480+1G>C rs149616199
NM_004629.1(FANCG):c.156dup (p.Leu53fs) rs863224506
NM_004629.1(FANCG):c.161dup (p.His55fs) rs886063898
NM_004629.1(FANCG):c.1642C>T (p.Arg548Ter) rs779834525
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.1(FANCG):c.307+1G>C rs200479612
NM_004629.1(FANCG):c.313G>T (p.Glu105Ter) rs121434425
NM_004629.1(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_004629.1(FANCG):c.652C>T (p.Gln218Ter) rs1209807088
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1216del (p.Gln406fs) rs758423821
NM_004629.2(FANCG):c.1573del (p.Trp524_Val525insTer) rs753485145
NM_004629.2(FANCG):c.822_823AG[1] (p.Glu275fs)
NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005373.2(MPL):c.1069C>T (p.Arg357Ter) rs751975712
NM_005373.2(MPL):c.1194G>A (p.Trp398Ter) rs1570470199
NM_005373.2(MPL):c.1422G>A (p.Trp474Ter) rs754859909
NM_005373.2(MPL):c.1462G>T (p.Glu488Ter) rs1302209849
NM_005373.2(MPL):c.235_236del (p.Leu79fs) rs587778514
NM_005373.2(MPL):c.304C>T (p.Arg102Cys) rs763568293
NM_005373.2(MPL):c.305G>C (p.Arg102Pro) rs28928907
NM_005373.2(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.2(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.2(MPL):c.391+5G>C rs752453717
NM_005373.2(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.2(MPL):c.769C>T (p.Arg257Cys) rs121913611
NM_005373.3(MPL):c.1247G>A (p.Trp416Ter)
NM_005373.3(MPL):c.1474_1477dup (p.Ser493fs)
NM_005373.3(MPL):c.793del (p.Leu265fs)
NM_018062.4(FANCL):c.36C>A (p.Cys12Ter)
NM_018193.3(FANCI):c.2815_2819TCCTC[1] (p.Pro941fs) rs1596318782
NM_018193.3(FANCI):c.3313del (p.Asp1105fs) rs758597713
NM_018193.3(FANCI):c.3444_3445GT[1] (p.Cys1149fs) rs770318990
NM_018193.3(FANCI):c.3482del (p.Lys1161fs) rs1567179036
NM_018193.3(FANCI):c.3489_3492dup (p.Tyr1165fs) rs1596336945
NM_020937.4(FANCM):c.1142C>A (p.Ser381Ter) rs765686151
NM_020937.4(FANCM):c.1196C>G (p.Ser399Ter) rs1166587869
NM_020937.4(FANCM):c.1432C>T (p.Arg478Ter)
NM_020937.4(FANCM):c.1591C>T (p.Gln531Ter) rs1447482674
NM_020937.4(FANCM):c.1675_1676AT[1] (p.Ile559fs)
NM_020937.4(FANCM):c.1777C>T (p.Arg593Ter)
NM_020937.4(FANCM):c.1798C>T (p.Gln600Ter) rs778744393
NM_020937.4(FANCM):c.1879C>T (p.Arg627Ter)
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter) rs368728266
NM_020937.4(FANCM):c.2578G>T (p.Glu860Ter)
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs) rs768006618
NM_020937.4(FANCM):c.2629dup (p.Ser877fs)
NM_020937.4(FANCM):c.3281T>G (p.Leu1094Ter) rs1555364837
NM_020937.4(FANCM):c.3442_3443del (p.Leu1149fs)
NM_020937.4(FANCM):c.3832C>T (p.Gln1278Ter)
NM_020937.4(FANCM):c.3979_3980del (p.Gln1327fs)
NM_020937.4(FANCM):c.4304_4305insSVA (p.Leu1435delinsXaaXaa)
NM_020937.4(FANCM):c.4601C>A (p.Ser1534Ter) rs1594810556
NM_020937.4(FANCM):c.5048_5052del (p.Lys1683fs)
NM_020937.4(FANCM):c.5494_5495del (p.Glu1832fs) rs1566790465
NM_020937.4(FANCM):c.5647C>T (p.Gln1883Ter)
NM_020937.4(FANCM):c.708_714del (p.Asn237fs)
NM_021922.2(FANCE):c.355C>T (p.Gln119Ter) rs121434505
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_021922.3(FANCE):c.940C>T (p.Gln314Ter)
NM_022725.3(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.3(FANCF):c.484_485delCT rs587778340
NM_022725.4(FANCF):c.123dup (p.Arg42fs)
NM_032043.2(BRIP1):c.-31+498_187del
NM_032043.2(BRIP1):c.1004G>A (p.Trp335Ter) rs1555607749
NM_032043.2(BRIP1):c.1018_1019insCT (p.Leu340fs) rs878855134
NM_032043.2(BRIP1):c.103G>T (p.Gly35Ter) rs373104267
NM_032043.2(BRIP1):c.1052_1055dup (p.Tyr353fs) rs1603343235
NM_032043.2(BRIP1):c.1066C>T (p.Arg356Ter) rs730881633
NM_032043.2(BRIP1):c.1072_1087del (p.Leu358fs) rs1567831649
NM_032043.2(BRIP1):c.1109_1110dup (p.Tyr371fs) rs1567831477
NM_032043.2(BRIP1):c.1155_1162delinsATA (p.Lys386_Gln388delinsTer) rs1603342339
NM_032043.2(BRIP1):c.1162C>T (p.Gln388Ter) rs1304655615
NM_032043.2(BRIP1):c.1204_1205insTGTG rs730881647
NM_032043.2(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.2(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923
NM_032043.2(BRIP1):c.1315C>T (p.Arg439Ter) rs587780226
NM_032043.2(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.2(BRIP1):c.1343G>A (p.Trp448Ter) rs775171520
NM_032043.2(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228
NM_032043.2(BRIP1):c.1383T>G (p.Tyr461Ter) rs587780875
NM_032043.2(BRIP1):c.1414G>T (p.Glu472Ter) rs1555605902
NM_032043.2(BRIP1):c.141del (p.Thr48fs) rs587782065
NM_032043.2(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
NM_032043.2(BRIP1):c.1495C>T (p.Gln499Ter) rs1060501739
NM_032043.2(BRIP1):c.1510del (p.Ile504fs) rs775735278
NM_032043.2(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.2(BRIP1):c.1534G>T (p.Glu512Ter) rs1603336980
NM_032043.2(BRIP1):c.1537del (p.Ala513fs) rs1567816997
NM_032043.2(BRIP1):c.1594dup (p.Met532fs) rs1339743866
NM_032043.2(BRIP1):c.1618C>T (p.Gln540Ter) rs1603336897
NM_032043.2(BRIP1):c.1661del (p.Gln554fs) rs749762964
NM_032043.2(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Lys567_Asn568insIleSerAsnTer) rs878855140
NM_032043.2(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.2(BRIP1):c.1741C>T (p.Arg581Ter) rs780020495
NM_032043.2(BRIP1):c.1776G>A (p.Trp592Ter) rs753023295
NM_032043.2(BRIP1):c.1791del (p.Val598fs) rs1567813223
NM_032043.2(BRIP1):c.1831del (p.Val611fs) rs1567812616
NM_032043.2(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.2(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321
NM_032043.2(BRIP1):c.1888dup (p.Thr630fs) rs763818712
NM_032043.2(BRIP1):c.1918_1919delAT rs1555602127
NM_032043.2(BRIP1):c.193C>T (p.Gln65Ter) rs575595017
NM_032043.2(BRIP1):c.1941G>A (p.Trp647Ter) rs786202760
NM_032043.2(BRIP1):c.1970del (p.Gly657fs) rs760782298
NM_032043.2(BRIP1):c.1993C>T (p.Gln665Ter) rs1603328780
NM_032043.2(BRIP1):c.200_201dup (p.Ser68fs) rs1555618374
NM_032043.2(BRIP1):c.2010dup (p.Glu671Ter) rs775537066
NM_032043.2(BRIP1):c.2038_2039del (p.Leu680fs) rs587778134
NM_032043.2(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.2(BRIP1):c.2053C>T (p.Gln685Ter) rs876659533
NM_032043.2(BRIP1):c.2108delinsTCC (p.Lys703fs) rs786203384
NM_032043.2(BRIP1):c.210del (p.Lys70fs) rs1555617925
NM_032043.2(BRIP1):c.2111T>A (p.Leu704Ter) rs1057517643
NM_032043.2(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.2(BRIP1):c.2133del (p.Gly712fs) rs1567781543
NM_032043.2(BRIP1):c.2138T>G (p.Leu713Ter) rs878855145
NM_032043.2(BRIP1):c.2205dup (p.Asp736Ter) rs1555591385
NM_032043.2(BRIP1):c.2221dup (p.Val741fs) rs1567781169
NM_032043.2(BRIP1):c.2223_2225dup (p.Tyr742Ter) rs1310861578
NM_032043.2(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
NM_032043.2(BRIP1):c.2253_2254delGA rs1555591308
NM_032043.2(BRIP1):c.2255_2256del (p.Lys752fs) rs730881649
NM_032043.2(BRIP1):c.2273dup (p.Ala759fs) rs587780236
NM_032043.2(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574
NM_032043.2(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.2(BRIP1):c.243del (p.Val82fs) rs1064794890
NM_032043.2(BRIP1):c.2464dup (p.Tyr822fs) rs1483527885
NM_032043.2(BRIP1):c.2479C>T (p.Gln827Ter) rs786203898
NM_032043.2(BRIP1):c.2492+2dup rs587780240
NM_032043.2(BRIP1):c.2517G>A (p.Trp839Ter) rs1555574803
NM_032043.2(BRIP1):c.2589G>A (p.Trp863Ter) rs1555573497
NM_032043.2(BRIP1):c.2589_2590insTACG (p.Val864fs) rs1603277005
NM_032043.2(BRIP1):c.2605C>T (p.Gln869Ter) rs1060501766
NM_032043.2(BRIP1):c.2640del (p.Leu881fs) rs1567731917
NM_032043.2(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032043.2(BRIP1):c.270C>A (p.Cys90Ter) rs1060501740
NM_032043.2(BRIP1):c.2732dup (p.Thr912fs) rs752780954
NM_032043.2(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410
NM_032043.2(BRIP1):c.2786_2789del (p.Leu929fs) rs1295703239
NM_032043.2(BRIP1):c.2786_2789dup (p.Pro931fs) rs1295703239
NM_032043.2(BRIP1):c.2792del (p.Pro931fs) rs1555573327
NM_032043.2(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.2(BRIP1):c.2947dup (p.Ile983fs) rs774684620
NM_032043.2(BRIP1):c.2990_2993delCAAA rs771028677
NM_032043.2(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.2(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.2(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs) rs763443434
NM_032043.2(BRIP1):c.358_361dup (p.Thr121fs) rs1567874485
NM_032043.2(BRIP1):c.394dup (p.Thr132fs) rs587781416
NM_032043.2(BRIP1):c.440del (p.Tyr147fs) rs1555616176
NM_032043.2(BRIP1):c.440dup (p.Tyr147Ter) rs786203521
NM_032043.2(BRIP1):c.441C>G (p.Tyr147Ter) rs1603362622
NM_032043.2(BRIP1):c.448G>T (p.Glu150Ter) rs762701532
NM_032043.2(BRIP1):c.462dup (p.Gln155fs) rs1567868477
NM_032043.2(BRIP1):c.463C>T (p.Gln155Ter) rs587781786
NM_032043.2(BRIP1):c.46del (p.Tyr16fs) rs876660613
NM_032043.2(BRIP1):c.477_481delAAGAA rs1555616143
NM_032043.2(BRIP1):c.484C>T (p.Arg162Ter) rs747604569
NM_032043.2(BRIP1):c.514A>T (p.Lys172Ter) rs1060501765
NM_032043.2(BRIP1):c.548del (p.Leu183fs) rs1060501778
NM_032043.2(BRIP1):c.55dup (p.Tyr19fs) rs1567878148
NM_032043.2(BRIP1):c.576del (p.Thr192_Val193insTer) rs876660769
NM_032043.2(BRIP1):c.632del (p.Pro211fs) rs1060501779
NM_032043.2(BRIP1):c.633del (p.Gly212fs) rs779466229
NM_032043.2(BRIP1):c.68dup (p.Ser24fs) rs1555618716
NM_032043.2(BRIP1):c.777dup (p.Thr260fs) rs1555609254
NM_032043.2(BRIP1):c.7_11del (p.Ser3fs) rs1603368490
NM_032043.2(BRIP1):c.840del (p.His281fs) rs1555609191
NM_032043.2(BRIP1):c.876del (p.Phe292fs) rs1555609162
NM_032043.2(BRIP1):c.890del (p.Lys297fs) rs786202610
NM_032043.2(BRIP1):c.918del (p.Asn306fs) rs1555609116
NM_032043.2(BRIP1):c.939T>G (p.Tyr313Ter) rs1436085018
NM_032043.2(BRIP1):c.94-7_178dup rs1555618396
NM_032043.3(BRIP1):c.1114_1115delinsA (p.Leu372fs) rs587783377
NM_032043.3(BRIP1):c.1124_1125CA[1] (p.Gln376fs) rs587780224
NM_032043.3(BRIP1):c.1196_1197del (p.Glu399fs)
NM_032043.3(BRIP1):c.124_127TGTT[1] (p.Leu43fs) rs1064794202
NM_032043.3(BRIP1):c.1442_1443dup (p.Ile482fs)
NM_032043.3(BRIP1):c.1614del (p.Phe538fs)
NM_032043.3(BRIP1):c.1622del (p.Asn541fs) rs1603336895
NM_032043.3(BRIP1):c.1666_1669dup (p.Ser557fs)
NM_032043.3(BRIP1):c.1694C>A (p.Ser565Ter)
NM_032043.3(BRIP1):c.1697del (p.Asp566fs)
NM_032043.3(BRIP1):c.1948_1957del (p.Thr650fs)
NM_032043.3(BRIP1):c.1967dup (p.Arg658fs)
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter)
NM_032043.3(BRIP1):c.2507_2508del (p.Arg836fs)
NM_032043.3(BRIP1):c.2525_2538del (p.Leu842fs)
NM_032043.3(BRIP1):c.2756dup (p.Pro920fs) rs1603276728
NM_032043.3(BRIP1):c.286_289ACAA[1] (p.Asn97fs) rs763009188
NM_032043.3(BRIP1):c.2962del (p.Ser988fs)
NM_032043.3(BRIP1):c.2982_2985CAAA[4] (p.Lys998fs) rs771028677
NM_032043.3(BRIP1):c.474del (p.Arg160fs) rs1603362580
NM_032043.3(BRIP1):c.604del (p.Lys201_Ile202insTer) rs1603361577
NM_032043.3(BRIP1):c.608del (p.Asn203fs) rs1603361570
NM_032043.3(BRIP1):c.644_645del (p.Cys214_Ser215insTer)
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter) rs1603346857
NM_032043.3(BRIP1):c.73C>T (p.Gln25Ter)
NM_032043.3(BRIP1):c.772C>T (p.Gln258Ter)
NM_032043.3(BRIP1):c.96del (p.Leu33fs) rs1603367753
NM_032444.4(SLX4):c.1880_1887del (p.Pro627fs) rs1266198754
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773
NM_032444.4(SLX4):c.2449del (p.Glu817fs) rs1567170994
NM_032444.4(SLX4):c.3726_3729del (p.Ser1243fs) rs878855162
NM_032444.4(SLX4):c.3955C>T (p.Gln1319Ter)
NM_032444.4(SLX4):c.4133del (p.Pro1378fs)
NM_032444.4(SLX4):c.4862del (p.Leu1621fs) rs1567166544
NM_032444.4(SLX4):c.559C>T (p.Gln187Ter)
NM_032444.4(SLX4):c.59del (p.Leu20fs) rs1315905872
NM_032444.4(SLX4):c.860del (p.Ser287fs) rs752720263
NM_033084.4(FANCD2):c.-33-?_1098+?del
NM_033084.5(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785
NM_033084.5(FANCD2):c.2487C>G (p.Tyr829Ter) rs1289665675
NM_033084.5(FANCD2):c.553dup (p.Arg185fs) rs1553607671
NM_033084.5(FANCD2):c.757C>T (p.Arg253Ter) rs374328858
NM_033084.5(FANCD2):c.904C>T (p.Arg302Trp) rs121917787
NM_058216.1(RAD51C):c.(?_-1)_(*1_?)del
NM_058216.2(RAD51C):c.(?_-1)_837+?del
NM_058216.2(RAD51C):c.572-?_*(1_?)del
NM_058216.2(RAD51C):c.572-?_*120del
NM_058216.2(RAD51C):c.572-?_705+?del (p.(?))
NM_058216.2(RAD51C):c.706-?_*120del
NM_058216.2(RAD51C):c.966-?_1026+?del
NM_058216.3(RAD51C):c.145+1G>T rs757128712
NM_058216.3(RAD51C):c.179_180CT[1] (p.Leu61fs) rs786203945
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs) rs587782170
NM_058216.3(RAD51C):c.199G>T (p.Glu67Ter) rs1567785872
NM_058216.3(RAD51C):c.204T>A (p.Cys68Ter)
NM_058216.3(RAD51C):c.222_223AT[3] (p.Ala76fs) rs1598455598
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter) rs1555593616
NM_058216.3(RAD51C):c.312T>A (p.Cys104Ter) rs1555593715
NM_058216.3(RAD51C):c.31C>T (p.Gln11Ter) rs1567782755
NM_058216.3(RAD51C):c.363_371delinsC (p.Glu122fs) rs1567786509
NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs)
NM_058216.3(RAD51C):c.394dup (p.Thr132fs) rs730881940
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs) rs1598460178
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) rs587781490
NM_058216.3(RAD51C):c.50del (p.Phe17fs) rs1555591851
NM_058216.3(RAD51C):c.525dup (p.Cys176fs) rs768793789
NM_058216.3(RAD51C):c.52_53del (p.Pro18fs) rs1598448896
NM_058216.3(RAD51C):c.535del (p.His179fs) rs1555594864
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302
NM_058216.3(RAD51C):c.589G>T (p.Glu197Ter) rs1555597094
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter) rs786201909
NM_058216.3(RAD51C):c.648_649CA[1] (p.Thr217fs)
NM_058216.3(RAD51C):c.675del (p.Leu226fs)
NM_058216.3(RAD51C):c.68_72dup (p.Val25fs)
NM_058216.3(RAD51C):c.692C>G (p.Ser231Ter) rs1060502588
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter) rs587782818
NM_058216.3(RAD51C):c.706-2A>G rs587780259
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624
NM_058216.3(RAD51C):c.732del (p.Ile244fs) rs1060502601
NM_058216.3(RAD51C):c.73delinsTTC (p.Val25fs) rs1567782936
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349
NM_058216.3(RAD51C):c.802C>T (p.Gln268Ter) rs1567799818
NM_058216.3(RAD51C):c.851_854del (p.Asn284fs) rs1060502605
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs) rs1555602141
NM_058216.3(RAD51C):c.905-2A>C rs779582317
NM_058216.3(RAD51C):c.905-2A>G rs779582317
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995
NM_058216.3(RAD51C):c.905-3_906del rs730881941
NM_058216.3(RAD51C):c.910del (p.Ser304fs) rs1555603011
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter) rs587781287
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) rs587782528
NM_058216.3(RAD51C):c.97_98del (p.Gln33fs) rs587780840
Single allele

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