ClinVar Miner

List of variants reported as pathogenic for Fanconi anemia

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 564
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HGVS dbSNP
FANCA, IVS7DS, G-A, +5
FANCB, 1-BP DEL, 1650T
FANCB, 1-BP INS, 1838T
FANCB, 1-BP INS, 811T
FANCB, 3314-BP DEL
FANCC, 250-BP DEL
FANCD2, 376A-G
FANCD2, EX17 DEL
FANCG, IVS13, G-C, -1
FANCI, 2T-C
FANCI, IVS31AS, A-G, -88
FANCL, 3-BP DEL, 1007TAT
FANCL, 4-BP DUP, 1095AATT
NC_000002.11:g.(?_58386890)_(58468458_?)del
NC_000003.11:g.(?_10070332)_(10085558_?)del
NC_000003.11:g.(?_10070332)_(10088417_?)del
NC_000003.11:g.(?_10106407)_(10188326_?)del
NC_000009.11:g.(?_97863982)_(98270649_?)del
NC_000015.9:g.(?_89790860)_(89860362_?)del
NC_000016.9:g.(?_14014013)_(14042214_?)del
NC_000016.9:g.(?_14021879)_(14022098_?)del
NC_000016.9:g.(?_3658431)_(3659567_?)del
NC_000016.9:g.(?_89804999)_(89883033_?)del
NC_000016.9:g.(?_89818536)_(89858965_?)del
NC_000016.9:g.(?_89818536)_(89883033_?)del
NC_000016.9:g.(?_89818546)_(89858955_?)del
NC_000016.9:g.(?_89824979)_(89851378_?)del
NC_000016.9:g.(?_89828351)_(89986626_?)del
NC_000016.9:g.(?_89831215)_(89871810_?)del
NC_000016.9:g.(?_89831288)_(89839802_?)del
NC_000016.9:g.(?_89831292)_(89833651_?)del
NC_000016.9:g.(?_89833543)_(89883029_?)del
NC_000016.9:g.(?_89842140)_(89874785_?)del
NC_000016.9:g.(?_89842144)_(89842229_?)del
NC_000016.9:g.(?_89849257)_(89851382_?)del
NC_000016.9:g.(?_89849257)_(89862436_?)del
NC_000016.9:g.(?_89857801)_(89883033_?)del
NC_000016.9:g.(?_89857810)_(89883023_?)del
NC_000016.9:g.(?_89877105)_(89883033_?)del
NC_000016.9:g.(?_89877109)_(89883029_?)del
NC_000016.9:g.(?_89880922)_(89883029_?)del
NC_000017.10:g.(?_56769995)_(56770159_?)del
NC_000017.10:g.(?_56769995)_(56787361_?)del
NC_000017.10:g.(?_56769999)_(56787357_?)del
NC_000017.10:g.(?_56769999)_(56811589_?)del
NC_000017.10:g.(?_56774048)_(56774226_?)del
NC_000017.10:g.(?_56780547)_(56780700_?)del
NC_000017.10:g.(?_56780547)_(56811593_?)del
NC_000017.10:g.(?_56780557)_(56787351_?)del
NC_000017.10:g.(?_56787210)_(56811593_?)del
NC_000017.10:g.(?_56798097)_(56811593_?)del
NC_000017.10:g.(?_56798101)_(56798179_?)del
NC_000017.10:g.(?_56798101)_(56801467_?)del
NC_000017.10:g.(?_56798107)_(56811703_?)del
NC_000017.10:g.(?_56809835)_(56811593_?)del
NC_000017.10:g.(?_59760647)_(59770883_?)del
NC_000017.10:g.(?_59760647)_(59793434_?)del
NC_000017.10:g.(?_59760651)_(59761507_?)del
NC_000017.10:g.(?_59793302)_(59886128_?)del
NC_000017.10:g.(?_59820368)_(59886124_?)del
NC_000017.10:g.(?_59853756)_(59878841_?)del
NC_000017.10:g.(?_59853756)_(59938906_?)del
NC_000017.10:g.(?_59924452)_(59926627_?)del
NC_000017.10:g.(?_59924462)_(59926617_?)del
NC_000017.10:g.(?_59934409)_(59938910_?)del
NC_000017.10:g.(?_59934413)_(59938906_?)del
NC_000017.10:g.(?_59937147)_(59938910_?)del
NC_000023.11:g.14843408_14873063del
NG_011706.1:g.10587_63081del
NG_011706.1:g.13291_71928del
NM_000059.3(BRCA2):c.100G>T (p.Glu34Ter) rs80358391
NM_000059.3(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.3(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533
NM_000059.3(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.3(BRCA2):c.4243G>T (p.Glu1415Ter) rs397507327
NM_000059.3(BRCA2):c.4648G>T (p.Glu1550Ter) rs80358695
NM_000059.3(BRCA2):c.4787del (p.Asn1596fs)
NM_000059.3(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721
NM_000059.3(BRCA2):c.5453C>A (p.Ser1818Ter) rs1566232471
NM_000059.3(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) rs276174859
NM_000059.3(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.3(BRCA2):c.5791C>T (p.Gln1931Ter) rs80358807
NM_000059.3(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.631+1G>A rs81002897
NM_000059.3(BRCA2):c.631+2T>G rs81002899
NM_000059.3(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.3(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.3(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.3(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.3(BRCA2):c.7464_7465insTA (p.Asp2489Ter) rs886038169
NM_000059.3(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972
NM_000059.3(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.3(BRCA2):c.7579del (p.Ala2526_Val2527insTer) rs1555286294
NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.3(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8219T>A (p.Leu2740Ter) rs80359070
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.8732C>A (p.Ala2911Glu) rs80359130
NM_000059.3(BRCA2):c.9117G>A (p.Pro3039=) rs28897756
NM_000059.3(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000059.3(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200
NM_000059.3(BRCA2):c.92G>A (p.Trp31Ter) rs397508045
NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212
NM_000059.3(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773
NM_000059.3(BRCA2):c.9693del (p.Leu3232fs) rs1566260827
NM_000135.2(FANCA):c.1007_3066del
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.2(FANCA):c.894_1006del113 (p.Trp298Cysfs)
NM_000135.2:c.1471_1626del
NM_000135.2:c.1627_1900del
NM_000135.3(FANCA):c.(?_-1)_522+?del
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764
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)
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.1340C>G (p.Ser447Ter) rs149551759
NM_000135.4(FANCA):c.1359+1G>C rs1555561294
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) rs1438828232
NM_000135.4(FANCA):c.1472_1566+1del rs1567628967
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) rs773159223
NM_000135.4(FANCA):c.1606del (p.Ser536fs) rs587776570
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1630dup (p.His544fs)
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)
NM_000135.4(FANCA):c.1827-1G>A rs555449842
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro) rs1567621042
NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter) rs1060501878
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2151+1G>A rs1555548428
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter)
NM_000135.4(FANCA):c.2317-2A>G rs1567618264
NM_000135.4(FANCA):c.236_239del (p.Asp79fs)
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2529_2530CT[2] (p.Leu845fs)
NM_000135.4(FANCA):c.2529_2530CT[3] (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2546del (p.Ser849fs) rs1060501876
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.2587_2588dup (p.Leu864fs) rs1567616135
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)
NM_000135.4(FANCA):c.2601+1G>T rs1188581065
NM_000135.4(FANCA):c.2602-2A>T rs1555545592
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.2722_2723CT[4] (p.Trp911fs) rs878853663
NM_000135.4(FANCA):c.2735_2736CA[2] (p.His913fs)
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.275C>G (p.Ser92Ter)
NM_000135.4(FANCA):c.2778+1G>A
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.2870G>A (p.Trp957Ter) rs927630499
NM_000135.4(FANCA):c.294_295delinsTT (p.Leu98_Gln99delinsPheTer)
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter) rs1057516430
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800
NM_000135.4(FANCA):c.3066+1G>T rs587783028
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.3239+1dup
NM_000135.4(FANCA):c.3241_3626+1del
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter) rs777825824
NM_000135.4(FANCA):c.3348+1G>A rs751266148
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)
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3755_3756AG[3] (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.3813dup (p.His1272fs) rs1555534521
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390
NM_000135.4(FANCA):c.4122_4123CA[1] (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.414_415TG[1] (p.Val139fs) rs864622188
NM_000135.4(FANCA):c.4261-2A>C rs915983602
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter) rs539460201
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter) rs121907930
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter)
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter) rs758528624
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.709+5G>A rs759877008
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) rs1184639006
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter)
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.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.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.1257del (p.Thr420fs)
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.1329+1G>T rs1554829441
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.1393C>T (p.Gln465Ter) rs1035139114
NM_000136.3(FANCC):c.1428_1429CA[1] (p.Thr477fs)
NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg) rs121917785
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
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.355_356TC[1] (p.His120fs)
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.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)
NM_000136.3(FANCC):c.519del (p.Arg173fs) rs1564719070
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763
NM_000136.3(FANCC):c.521+1G>A rs145394391
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.65G>A (p.Trp22Ter) rs377294947
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter)
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.897-1G>A
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter) rs776529713
NM_001018113.3(FANCB):c.1103C>A (p.Ser368Ter)
NM_001018113.3(FANCB):c.128T>C (p.Leu43Ser)
NM_001018113.3(FANCB):c.1496+5G>A rs1569085810
NM_001018113.3(FANCB):c.1497_2580del (p.Ser500fs)
NM_001018113.3(FANCB):c.1668del (p.Asp557fs) rs1569083679
NM_001018113.3(FANCB):c.1807_1808GA[2] (p.Arg604fs)
NM_001018113.3(FANCB):c.1855_1856AG[1] (p.Arg619fs) rs1569083464
NM_001018113.3(FANCB):c.1856_1857insT (p.Arg619fs)
NM_001018113.3(FANCB):c.195dup (p.Thr66fs)
NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter) rs1569083185
NM_001018113.3(FANCB):c.2165+1G>T
NM_001018113.3(FANCB):c.2172_2175del (p.Thr725fs)
NM_001018113.3(FANCB):c.2249_2252del (p.Gly750fs)
NM_001018113.3(FANCB):c.755_767del (p.Leu252fs)
NM_001018113.3(FANCB):c.829dup (p.Cys277fs)
NM_001018113.3(FANCB):c.949C>T (p.Gln317Ter)
NM_001018113.3(FANCB):c.986T>C (p.Leu329Pro)
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_001114636.1(FANCL):c.1022_1024del (p.Ile341_Cys342delinsSer) rs747253294
NM_001114636.1(FANCL):c.1111_1114dup (p.Thr372fs) rs759217526
NM_001114636.1(FANCL):c.211C>T (p.Gln71Ter) rs753105795
NM_001114636.1(FANCL):c.268del (p.Leu90fs) rs869320684
NM_001114636.1(FANCL):c.40dup (p.Leu14fs) rs761039364
NM_001114636.1(FANCL):c.426_438del (p.Asp142fs) rs878855046
NM_001114636.1(FANCL):c.430del (p.Ser144fs) rs869320685
NM_001114636.1(FANCL):c.770_773TCTT[1] (p.Phe258fs) rs1553435610
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_004629.1(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.1(FANCG):c.1077-2A>G rs769547477
NM_004629.1(FANCG):c.1158del (p.Ser387fs) rs757418016
NM_004629.1(FANCG):c.1183_1192del (p.Glu395fs) rs397507559
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_004629.1(FANCG):c.925-2A>G rs397507561
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1216del (p.Gln406fs)
NM_004629.2(FANCG):c.1573del (p.Trp524_Val525insTer)
NM_004629.2(FANCG):c.85-2A>T
NM_005236.2(ERCC4):c.1484_1488del (p.Thr495fs) rs397509400
NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.2(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.2(ERCC4):c.2371_2398dup (p.Ile800fs) rs397509401
NM_005236.2(ERCC4):c.689T>C (p.Leu230Pro) rs397509402
NM_006341.4(MAD2L2):c.254T>A (p.Val85Glu) rs1057517674
NM_007294.3(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.3(BRCA1):c.1115G>A (p.Trp372Ter) rs397508838
NM_007294.3(BRCA1):c.117T>A (p.Cys39Ter) rs886040898
NM_007294.3(BRCA1):c.1292T>G (p.Leu431Ter) rs80357346
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.3(BRCA1):c.241C>T (p.Gln81Ter) rs80357350
NM_007294.3(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.3(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.3(BRCA1):c.3097G>T (p.Glu1033Ter) rs273899698
NM_007294.3(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.3(BRCA1):c.3893C>A (p.Ser1298Ter) rs80357440
NM_007294.3(BRCA1):c.3G>T (p.Met1Ile) rs80357475
NM_007294.3(BRCA1):c.4054G>T (p.Glu1352Ter) rs80357202
NM_007294.3(BRCA1):c.4485-1G>A rs80358189
NM_007294.3(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.3(BRCA1):c.4675+1G>A rs80358044
NM_007294.3(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.3(BRCA1):c.5194-12G>A rs80358079
NM_007294.3(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123
NM_007294.3(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962
NM_007294.3(BRCA1):c.594_597delTGTG rs797045175
NM_007294.3(BRCA1):c.925A>T (p.Lys309Ter) rs879255498
NM_007298.3(BRCA1):c.788-1790T>A rs1555589094
NM_007299.4(BRCA1):c.1895T>C (p.Val632Ala) rs45553935
NM_007299.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007300.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898
NM_007300.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672
NM_007300.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_014176.4(UBE2T):c.179+5G>A rs796052212
NM_014176.4(UBE2T):c.4C>G (p.Gln2Glu) rs774357609
NM_018062.3(FANCL):c.822-15_822-9delins177
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)
NM_018124.4(RFWD3):c.1916T>A (p.Ile639Lys) rs1555524842
NM_018124.4(RFWD3):c.204_205dup (p.Leu69fs) rs1205970095
NM_018193.3(FANCI):c.2815_2819TCCTC[1] (p.Pro941fs)
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)
NM_018193.3(FANCI):c.3673C>T (p.Arg1225Ter) rs121918164
NM_018193.3(FANCI):c.3674G>A (p.Arg1225Gln) rs121918163
NM_021922.2(FANCE):c.1114-8G>A rs878854342
NM_021922.2(FANCE):c.355C>T (p.Gln119Ter) rs121434505
NM_021922.2(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021922.3(FANCE):c.929dup (p.Val311fs)
NM_022725.3(FANCF):c.16C>T (p.Gln6Ter) rs104894221
NM_022725.3(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.3(FANCF):c.327C>G (p.Tyr109Ter) rs104894222
NM_022725.3(FANCF):c.349_395del rs730880278
NM_022725.3(FANCF):c.484_485delCT rs587778340
NM_024675.3(PALB2):c.106C>T (p.Gln36Ter) rs757369748
NM_024675.3(PALB2):c.1240C>T (p.Arg414Ter) rs180177100
NM_024675.3(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997
NM_024675.3(PALB2):c.1676_1677delinsG (p.Gln559fs) rs515726073
NM_024675.3(PALB2):c.2393_2394insCT (p.Thr799fs) rs180177113
NM_024675.3(PALB2):c.2521del (p.Thr841fs) rs180177116
NM_024675.3(PALB2):c.2834+1G>T rs587776419
NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.3(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.3(PALB2):c.3323del (p.Tyr1108fs) rs180177135
NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998
NM_024675.3(PALB2):c.395del (p.Val132fs) rs180177085
NM_024675.3(PALB2):c.757_758delCT rs180177092
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.1045G>C (p.Ala349Pro) rs149364097
NM_032043.2(BRIP1):c.1052_1055dup (p.Tyr353fs)
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.1126_1127delCA rs587780224
NM_032043.2(BRIP1):c.1155_1162delinsATA (p.Lys386_Gln388delinsTer)
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.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)
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)
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.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.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)
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.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
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.2392C>T (p.Arg798Ter) rs137852986
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.2517G>A (p.Trp839Ter) rs1555574803
NM_032043.2(BRIP1):c.2576-1G>A rs587782539
NM_032043.2(BRIP1):c.2589G>A (p.Trp863Ter) rs1555573497
NM_032043.2(BRIP1):c.2589_2590insTACG (p.Val864fs)
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.290_293delACAA rs763009188
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_2995del (p.Lys998fs) rs786203717
NM_032043.2(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs) rs763443434
NM_032043.2(BRIP1):c.30del (p.Ile10fs) rs1567878234
NM_032043.2(BRIP1):c.358_361dup (p.Thr121fs) rs1567874485
NM_032043.2(BRIP1):c.394dup (p.Thr132fs) rs587781416
NM_032043.2(BRIP1):c.440dup (p.Tyr147Ter) rs786203521
NM_032043.2(BRIP1):c.441C>G (p.Tyr147Ter)
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)
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.1622del (p.Asn541fs)
NM_032043.3(BRIP1):c.2756dup (p.Pro920fs)
NM_032043.3(BRIP1):c.604del (p.Lys201_Ile202insTer)
NM_032043.3(BRIP1):c.608del (p.Asn203fs)
NM_032043.3(BRIP1):c.96del (p.Leu33fs)
NM_032444.4(SLX4):c.1093del (p.Gln365fs)
NM_032444.4(SLX4):c.1163+2T>A rs773642409
NM_032444.4(SLX4):c.1880_1887del (p.Pro627fs)
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773
NM_032444.4(SLX4):c.2449del (p.Glu817fs) rs1567170994
NM_032444.4(SLX4):c.286del (p.Thr96fs)
NM_032444.4(SLX4):c.3726_3729del (p.Ser1243fs) rs878855162
NM_032444.4(SLX4):c.4391_4403del (p.Ser1464fs)
NM_032444.4(SLX4):c.4405del (p.Ser1469fs)
NM_032444.4(SLX4):c.4862del (p.Leu1621fs) rs1567166544
NM_032444.4(SLX4):c.514del (p.Leu172fs) rs1567178071
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.1201del (p.Arg401fs) rs1553608812
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)
NM_033084.5(FANCD2):c.904C>T (p.Arg302Trp) rs121917787
NM_033084.5(FANCD2):c.958C>T (p.Gln320Ter) rs121917788
NM_033084.6(FANCD2):c.2715+1G>A
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.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.394dup (p.Thr132fs) rs730881940
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs)
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)
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.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.773G>A (p.Arg258His) rs267606997
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
NM_173472.2(FANCD2OS):c.44-8784C>T rs121917786
PALB2:c.49-?_2586+?del
SLX4, 4,890-BP DEL/2-BP INS
SLX4, IVS5DS, 1-BP DUP, T, +3
Single allele

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