ClinVar Miner

List of variants reported as uncertain significance for Fanconi anemia complementation group A by Sema4, Sema4

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 339
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00119
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp) rs142008398 0.00114
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys) rs145613634 0.00103
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg) rs149097636 0.00098
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) rs142906652 0.00071
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe) rs141567438 0.00069
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro) rs143819820 0.00061
NM_021922.3(FANCE):c.229C>A (p.Pro77Thr) rs587778335 0.00061
NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile) rs138398760 0.00057
NM_000135.4(FANCA):c.3514-13G>A rs200270574 0.00056
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00053
NM_032444.4(SLX4):c.2756C>T (p.Thr919Ile) rs145533919 0.00052
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly) rs61744917 0.00051
NM_004629.2(FANCG):c.478G>A (p.Ala160Thr) rs140534765 0.00051
NM_022725.4(FANCF):c.385C>G (p.Leu129Val) rs61753271 0.00051
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784 0.00049
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser) rs145057187 0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_032444.4(SLX4):c.2249C>T (p.Thr750Met) rs145353518 0.00046
NM_022725.4(FANCF):c.633G>T (p.Gln211His) rs146975768 0.00045
NM_032444.4(SLX4):c.4658A>T (p.Asn1553Ile) rs150460384 0.00044
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=) rs146532299 0.00041
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330 0.00038
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys) rs144614070 0.00038
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431 0.00037
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu) rs146509445 0.00036
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu) rs147492092 0.00036
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) rs145137472 0.00036
NM_022725.4(FANCF):c.91G>A (p.Val31Met) rs11556562 0.00034
NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser) rs138484365 0.00034
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val) rs149584080 0.00031
NM_032444.4(SLX4):c.3368C>A (p.Ser1123Tyr) rs144647122 0.00031
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759 0.00029
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569 0.00026
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086 0.00025
NM_021922.3(FANCE):c.53C>T (p.Pro18Leu) rs991748781 0.00025
NM_032444.4(SLX4):c.5212G>T (p.Gly1738Trp) rs556217576 0.00025
NM_032444.4(SLX4):c.1394C>T (p.Pro465Leu) rs372128800 0.00024
NM_032444.4(SLX4):c.4590G>A (p.Met1530Ile) rs147315419 0.00024
NM_032444.4(SLX4):c.742G>A (p.Glu248Lys) rs148547201 0.00024
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383 0.00019
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303 0.00019
NM_001018115.3(FANCD2):c.122T>C (p.Val41Ala) rs139025231 0.00019
NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile) rs199726965 0.00019
NM_001113378.2(FANCI):c.3419C>T (p.Thr1140Ile) rs142969866 0.00019
NM_021922.3(FANCE):c.1114-4G>A rs368422520 0.00019
NM_032444.4(SLX4):c.1829A>G (p.Gln610Arg) rs544935776 0.00019
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734 0.00018
NM_018062.4(FANCL):c.580A>G (p.Ile194Val) rs542006141 0.00018
NM_000135.4(FANCA):c.1226-13G>C rs377159744 0.00016
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val) rs145129959 0.00016
NM_001018115.3(FANCD2):c.2801C>G (p.Ser934Cys) rs200971205 0.00016
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys) rs142040192 0.00016
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00015
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu) rs138618354 0.00015
NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys) rs371020401 0.00014
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp) rs141597706 0.00014
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp) rs375195621 0.00013
NM_001113525.2(ZNF276):c.*471G>C rs368506826 0.00012
NM_000135.4(FANCA):c.2029G>A (p.Val677Met) rs767396631 0.00011
NM_000135.4(FANCA):c.2842G>C (p.Asp948His) rs778254482 0.00011
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_001018115.3(FANCD2):c.172A>G (p.Ile58Val) rs766098612 0.00011
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln) rs151038616 0.00011
NM_018062.4(FANCL):c.706A>G (p.Ile236Val) rs762904548 0.00011
NM_032444.4(SLX4):c.4903A>G (p.Lys1635Glu) rs140417509 0.00011
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys) rs140687953 0.00010
NM_001113378.2(FANCI):c.2890-13C>T rs377269890 0.00010
NM_032444.4(SLX4):c.73G>A (p.Gly25Arg) rs201533738 0.00010
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met) rs199652831 0.00009
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp) rs139478274 0.00009
NM_000136.3(FANCC):c.1589T>C (p.Leu530Ser) rs766809608 0.00009
NM_000136.3(FANCC):c.745A>G (p.Ser249Gly) rs539583288 0.00009
NM_001018115.3(FANCD2):c.28T>C (p.Ser10Pro) rs150075366 0.00009
NM_004629.2(FANCG):c.373_375dup (p.Val125dup) rs750843326 0.00009
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp) rs199601218 0.00008
NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys) rs368711186 0.00008
NM_018062.4(FANCL):c.238C>G (p.Leu80Val) rs563513081 0.00008
NM_000135.4(FANCA):c.1006+4G>C rs201771215 0.00007
NM_000136.3(FANCC):c.345+6A>T rs368595927 0.00007
NM_001018115.3(FANCD2):c.1200C>A (p.Asp400Glu) rs755295382 0.00007
NM_021922.3(FANCE):c.311C>G (p.Ala104Gly) rs773580818 0.00007
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr) rs201212806 0.00006
NM_000135.4(FANCA):c.2778+83C>T rs750997715 0.00006
NM_000135.4(FANCA):c.3349-3C>T rs373861415 0.00006
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His) rs374649848 0.00006
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys) rs201658945 0.00006
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321 0.00006
NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr) rs760428640 0.00006
NM_001018115.3(FANCD2):c.4186-13C>T rs755767180 0.00006
NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser) rs933284199 0.00006
NM_004629.2(FANCG):c.968T>C (p.Ile323Thr) rs752346718 0.00006
NM_018062.4(FANCL):c.661C>T (p.Arg221Trp) rs772025061 0.00006
NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser) rs776189589 0.00006
NM_032444.4(SLX4):c.1442G>A (p.Arg481Gln) rs145194745 0.00006
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286 0.00005
NM_000135.4(FANCA):c.2015-5C>T rs780349960 0.00005
NM_000136.3(FANCC):c.1603C>T (p.Arg535Cys) rs185822330 0.00005
NM_001018115.3(FANCD2):c.1675A>G (p.Ile559Val) rs201408009 0.00005
NM_001113378.2(FANCI):c.1564C>T (p.Arg522Trp) rs371568506 0.00005
NM_001113378.2(FANCI):c.1727A>G (p.Asn576Ser) rs573652425 0.00005
NM_004629.2(FANCG):c.769C>T (p.Arg257Cys) rs759314410 0.00005
NM_018062.4(FANCL):c.343A>G (p.Ile115Val) rs149414332 0.00005
NM_021922.3(FANCE):c.298T>A (p.Ser100Thr) rs768911543 0.00005
NM_032444.4(SLX4):c.-602-6C>G rs886051986 0.00005
NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys) rs140529288 0.00005
NM_032444.4(SLX4):c.3184C>T (p.Arg1062Cys) rs569194362 0.00005
NM_032444.4(SLX4):c.3701C>T (p.Ala1234Val) rs186036075 0.00005
NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala) rs151144102 0.00005
NM_032444.4(SLX4):c.461G>A (p.Arg154Gln) rs778404827 0.00005
NM_032444.4(SLX4):c.5188T>C (p.Ser1730Pro) rs199838670 0.00005
NM_032444.4(SLX4):c.5371C>T (p.Arg1791Cys) rs371875095 0.00005
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys) rs201323171 0.00004
NM_000135.4(FANCA):c.1799G>A (p.Arg600His) rs775917892 0.00004
NM_000135.4(FANCA):c.2669G>A (p.Ser890Asn) rs1055448646 0.00004
NM_000135.4(FANCA):c.3997T>C (p.Phe1333Leu) rs576079738 0.00004
NM_000135.4(FANCA):c.661A>G (p.Met221Val) rs150924963 0.00004
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val) rs730881725 0.00004
NM_001018115.3(FANCD2):c.1363A>G (p.Ser455Gly) rs112902928 0.00004
NM_001018115.3(FANCD2):c.4281+107T>C rs767893462 0.00004
NM_001113378.2(FANCI):c.1904A>G (p.Tyr635Cys) rs764435343 0.00004
NM_001113378.2(FANCI):c.2419A>G (p.Met807Val) rs750348956 0.00004
NM_004629.2(FANCG):c.366G>C (p.Trp122Cys) rs546023787 0.00004
NM_004629.2(FANCG):c.422G>A (p.Arg141His) rs775719850 0.00004
NM_018062.4(FANCL):c.622G>A (p.Asp208Asn) rs199564543 0.00004
NM_021922.3(FANCE):c.133G>C (p.Gly45Arg) rs996436646 0.00004
NM_022725.4(FANCF):c.446A>G (p.Asn149Ser) rs377309460 0.00004
NM_032444.4(SLX4):c.4864C>G (p.Gln1622Glu) rs1009469961 0.00004
NM_032444.4(SLX4):c.4964G>A (p.Arg1655Lys) rs149726415 0.00004
NM_032444.4(SLX4):c.734C>T (p.Pro245Leu) rs199929086 0.00004
NM_032444.4(SLX4):c.950+3G>T rs748822509 0.00004
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg) rs142379991 0.00003
NM_000135.4(FANCA):c.3349-11C>A rs1190325114 0.00003
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) rs374836770 0.00003
NM_001018115.3(FANCD2):c.2361T>G (p.Phe787Leu) rs765365413 0.00003
NM_001018115.3(FANCD2):c.3973C>A (p.Leu1325Met) rs555539811 0.00003
NM_001113378.2(FANCI):c.1418T>G (p.Val473Gly) rs200007225 0.00003
NM_001113378.2(FANCI):c.1699-11C>T rs753750358 0.00003
NM_001113378.2(FANCI):c.2781T>G (p.Ile927Met) rs771106622 0.00003
NM_004629.2(FANCG):c.1156C>G (p.Pro386Ala) rs375757497 0.00003
NM_004629.2(FANCG):c.398C>T (p.Pro133Leu) rs1270561172 0.00003
NM_004629.2(FANCG):c.730G>A (p.Val244Met) rs746248064 0.00003
NM_021922.3(FANCE):c.329C>T (p.Pro110Leu) rs371485747 0.00003
NM_022725.4(FANCF):c.1012G>A (p.Asp338Asn) rs149687560 0.00003
NM_022725.4(FANCF):c.149G>C (p.Arg50Pro) rs371420932 0.00003
NM_032444.4(SLX4):c.1077G>T (p.Lys359Asn) rs149470704 0.00003
NM_032444.4(SLX4):c.4406C>T (p.Ser1469Phe) rs759045352 0.00003
NM_032444.4(SLX4):c.553G>A (p.Asp185Asn) rs201769293 0.00003
NM_000135.4(FANCA):c.2622A>G (p.Arg874=) rs1441752228 0.00002
NM_000135.4(FANCA):c.2667C>T (p.Ala889=) rs771425634 0.00002
NM_000135.4(FANCA):c.3115G>A (p.Gly1039Ser) rs773260958 0.00002
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly) rs369878171 0.00002
NM_000135.4(FANCA):c.3605A>G (p.Glu1202Gly) rs760330357 0.00002
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val) rs201886956 0.00002
NM_000135.4(FANCA):c.4222C>A (p.Pro1408Thr) rs767206558 0.00002
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu) rs769243354 0.00002
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) rs201063698 0.00002
NM_000136.3(FANCC):c.473C>T (p.Ala158Val) rs776429990 0.00002
NM_000136.3(FANCC):c.620A>T (p.His207Leu) rs202038890 0.00002
NM_001018113.3(FANCB):c.1079C>T (p.Thr360Met) rs138192474 0.00002
NM_001018113.3(FANCB):c.1327-11_1327-10insC rs1312589379 0.00002
NM_001018113.3(FANCB):c.679T>C (p.Tyr227His) rs1398803909 0.00002
NM_001018115.3(FANCD2):c.3226A>G (p.Ser1076Gly) rs1371349116 0.00002
NM_018062.4(FANCL):c.500T>C (p.Val167Ala) rs1338440311 0.00002
NM_021922.3(FANCE):c.656G>A (p.Arg219Lys) rs551170184 0.00002
NM_021922.3(FANCE):c.661C>T (p.Arg221Trp) rs771767241 0.00002
NM_032444.4(SLX4):c.1335T>G (p.Ser445Arg) rs904007909 0.00002
NM_000135.4(FANCA):c.1550G>A (p.Arg517Gln) rs1050329686 0.00001
NM_000135.4(FANCA):c.1930A>T (p.Asn644Tyr) rs1293899212 0.00001
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly) rs886052485 0.00001
NM_000135.4(FANCA):c.2602-8T>C rs772897825 0.00001
NM_000135.4(FANCA):c.3626+4C>T rs772166806 0.00001
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658 0.00001
NM_000135.4(FANCA):c.47G>A (p.Gly16Glu) rs908258968 0.00001
NM_000135.4(FANCA):c.487C>T (p.Arg163Cys) rs747651383 0.00001
NM_000135.4(FANCA):c.793-12C>G rs746312984 0.00001
NM_000136.3(FANCC):c.1513G>A (p.Ala505Thr) rs780179187 0.00001
NM_000136.3(FANCC):c.1568T>C (p.Ile523Thr) rs1554827151 0.00001
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr) rs767302089 0.00001
NM_001018113.3(FANCB):c.1496T>C (p.Leu499Pro) rs935080919 0.00001
NM_001018113.3(FANCB):c.2019G>C (p.Lys673Asn) rs1416043928 0.00001
NM_001018113.3(FANCB):c.2420A>C (p.Glu807Ala) rs1020168794 0.00001
NM_001018113.3(FANCB):c.2530G>A (p.Glu844Lys) rs1247789556 0.00001
NM_001018113.3(FANCB):c.52T>C (p.Tyr18His) rs996732250 0.00001
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe) rs529893298 0.00001
NM_001018115.3(FANCD2):c.2004C>G (p.Ser668=) rs138189144 0.00001
NM_001018115.3(FANCD2):c.2234A>G (p.His745Arg) rs2087692676 0.00001
NM_001018115.3(FANCD2):c.2942C>T (p.Thr981Ile) rs1468736218 0.00001
NM_001018115.3(FANCD2):c.2989C>T (p.Arg997Trp) rs587778330 0.00001
NM_001018115.3(FANCD2):c.3285T>C (p.Ser1095=) rs759252565 0.00001
NM_001018115.3(FANCD2):c.3561-4G>T rs1694400747 0.00001
NM_001018115.3(FANCD2):c.4163A>G (p.Asn1388Ser) rs745472884 0.00001
NM_001018115.3(FANCD2):c.4177G>A (p.Asp1393Asn) rs1273669064 0.00001
NM_001018115.3(FANCD2):c.4196T>C (p.Ile1399Thr) rs1369071910 0.00001
NM_001018115.3(FANCD2):c.4281+69G>A rs754606069 0.00001
NM_001018115.3(FANCD2):c.4297G>A (p.Glu1433Lys) rs755911397 0.00001
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=) rs72762644 0.00001
NM_001113378.2(FANCI):c.1148T>C (p.Val383Ala) rs1012254525 0.00001
NM_001113378.2(FANCI):c.1420C>A (p.Leu474Ile) rs746777753 0.00001
NM_001113378.2(FANCI):c.2292-6T>C rs772352819 0.00001
NM_001113378.2(FANCI):c.2774C>T (p.Pro925Leu) rs773438545 0.00001
NM_001113378.2(FANCI):c.3247A>G (p.Thr1083Ala) rs886051513 0.00001
NM_001113378.2(FANCI):c.3562G>A (p.Gly1188Arg) rs772739034 0.00001
NM_001113378.2(FANCI):c.3671A>C (p.Asn1224Thr) rs780218001 0.00001
NM_001113378.2(FANCI):c.625G>C (p.Glu209Gln) rs752707646 0.00001
NM_001113378.2(FANCI):c.976-6C>T rs2053316788 0.00001
NM_001113525.2(ZNF276):c.*739A>G rs753475025 0.00001
NM_004629.2(FANCG):c.1662G>A (p.Leu554=) rs750982155 0.00001
NM_004629.2(FANCG):c.463C>T (p.Arg155Cys) rs200926249 0.00001
NM_018062.4(FANCL):c.344T>C (p.Ile115Thr) rs1060501895 0.00001
NM_018062.4(FANCL):c.611T>C (p.Met204Thr) rs368900762 0.00001
NM_018062.4(FANCL):c.640C>T (p.Leu214Phe) rs765926796 0.00001
NM_018062.4(FANCL):c.679A>G (p.Arg227Gly) rs778068203 0.00001
NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln) rs749697038 0.00001
NM_021922.3(FANCE):c.436G>T (p.Val146Leu) rs755204532 0.00001
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp) rs779336261 0.00001
NM_022725.4(FANCF):c.1056A>C (p.Leu352Phe) rs754545069 0.00001
NM_022725.4(FANCF):c.466A>G (p.Asn156Asp) rs370979205 0.00001
NM_022725.4(FANCF):c.812C>T (p.Ser271Phe) rs1417824608 0.00001
NM_032444.4(SLX4):c.1189A>G (p.Lys397Glu) rs202204661 0.00001
NM_032444.4(SLX4):c.1490T>C (p.Leu497Ser) rs200337039 0.00001
NM_032444.4(SLX4):c.1627G>A (p.Glu543Lys) rs377148341 0.00001
NM_032444.4(SLX4):c.1739G>A (p.Ser580Asn) rs755653940 0.00001
NM_032444.4(SLX4):c.2099G>A (p.Gly700Glu) rs373081094 0.00001
NM_032444.4(SLX4):c.2236G>A (p.Glu746Lys) rs758785487 0.00001
NM_032444.4(SLX4):c.3761C>T (p.Ser1254Leu) rs750580998 0.00001
NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe) rs763539738 0.00001
NM_000135.4(FANCA):c.151C>G (p.Leu51Val) rs1287320584
NM_000135.4(FANCA):c.1809_1811dup (p.Ile604dup) rs2039604604
NM_000135.4(FANCA):c.2023G>A (p.Ala675Thr) rs752701423
NM_000135.4(FANCA):c.2098T>C (p.Ser700Pro) rs767631694
NM_000135.4(FANCA):c.2223-8C>T rs1598110961
NM_000135.4(FANCA):c.2248G>C (p.Val750Leu) rs747723074
NM_000135.4(FANCA):c.2316+6G>T rs1399631313
NM_000135.4(FANCA):c.2365G>A (p.Val789Met) rs771698195
NM_000135.4(FANCA):c.2669G>T (p.Ser890Ile) rs1055448646
NM_000135.4(FANCA):c.2755G>A (p.Val919Met) rs150330232
NM_000135.4(FANCA):c.2922C>A (p.Asp974Glu) rs756241886
NM_000135.4(FANCA):c.3018G>T (p.Leu1006Phe) rs1439833580
NM_000135.4(FANCA):c.3056C>G (p.Ser1019Cys) rs762111755
NM_000135.4(FANCA):c.3404T>G (p.Phe1135Cys) rs2143108985
NM_000135.4(FANCA):c.3408+6A>T rs1269046351
NM_000135.4(FANCA):c.3513+4G>A rs878946193
NM_000135.4(FANCA):c.3538G>C (p.Val1180Leu) rs372706571
NM_000135.4(FANCA):c.3610C>G (p.Arg1204Gly) rs759303096
NM_000135.4(FANCA):c.3639T>C (p.Pro1213=) rs1567598479
NM_000135.4(FANCA):c.376A>T (p.Thr126Ser) rs953219736
NM_000135.4(FANCA):c.4351G>C (p.Glu1451Gln) rs1043241541
NM_000135.4(FANCA):c.5C>G (p.Ser2Cys) rs928016876
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del) rs555210441
NM_000135.4(FANCA):c.775C>G (p.Pro259Ala) rs200988394
NM_000136.3(FANCC):c.1088A>G (p.His363Arg) rs2072244970
NM_000136.3(FANCC):c.1162G>A (p.Gly388Arg) rs371897078
NM_000136.3(FANCC):c.140A>C (p.Lys47Thr) rs1588353368
NM_000136.3(FANCC):c.1457T>C (p.Leu486Pro) rs753031127
NM_000136.3(FANCC):c.610C>T (p.Leu204Phe) rs1830064754
NM_000136.3(FANCC):c.632C>T (p.Pro211Leu) rs140781259
NM_000136.3(FANCC):c.665C>A (p.Ala222Asp) rs1830058618
NM_000136.3(FANCC):c.760A>G (p.Met254Val) rs757294568
NM_000136.3(FANCC):c.816C>G (p.Ile272Met) rs55719336
NM_001018113.3(FANCB):c.-191-13C>T rs2147458807
NM_001018113.3(FANCB):c.1105-4T>C rs2147425181
NM_001018113.3(FANCB):c.124A>G (p.Ile42Val) rs2147447859
NM_001018113.3(FANCB):c.2371A>G (p.Ser791Gly) rs2147386876
NM_001018113.3(FANCB):c.508A>G (p.Ile170Val) rs138251388
NM_001018113.3(FANCB):c.972A>T (p.Lys324Asn) rs1456143136
NM_001018115.3(FANCD2):c.1033CTC[1] (p.Leu346del) rs1158786668
NM_001018115.3(FANCD2):c.1098+4A>G rs664233
NM_001018115.3(FANCD2):c.1487T>G (p.Leu496Arg) rs2125006396
NM_001018115.3(FANCD2):c.1555G>A (p.Asp519Asn) rs780491203
NM_001018115.3(FANCD2):c.1601A>T (p.Tyr534Phe) rs143701205
NM_001018115.3(FANCD2):c.1922A>G (p.His641Arg) rs750353000
NM_001018115.3(FANCD2):c.2019A>T (p.Glu673Asp) rs2125034174
NM_001018115.3(FANCD2):c.2178T>C (p.Ser726=) rs761465333
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_001018115.3(FANCD2):c.2803A>G (p.Ile935Val) rs61751578
NM_001018115.3(FANCD2):c.3151A>G (p.Lys1051Glu) rs2125060028
NM_001018115.3(FANCD2):c.3355C>A (p.Gln1119Lys) rs1031970731
NM_001018115.3(FANCD2):c.3533C>G (p.Ser1178Cys) rs1472283913
NM_001018115.3(FANCD2):c.3889-5_3889-3del rs2125090590
NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro) rs147205530
NM_001018115.3(FANCD2):c.4067A>G (p.His1356Arg) rs1348547984
NM_001018115.3(FANCD2):c.70A>G (p.Arg24Gly) rs999832070
NM_001018115.3(FANCD2):c.905G>A (p.Arg302Gln) rs755797932
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val) rs775228768
NM_001113378.2(FANCI):c.1444A>G (p.Thr482Ala) rs1249221854
NM_001113378.2(FANCI):c.1525G>A (p.Val509Ile) rs1011876937
NM_001113378.2(FANCI):c.2066AGGAGGAAGAGG[1] (p.Glu693_Glu696del) rs878854176
NM_001113378.2(FANCI):c.2170-7C>G rs759281018
NM_001113378.2(FANCI):c.3059-11C>T rs2054667046
NM_001113378.2(FANCI):c.3272A>G (p.Gln1091Arg) rs2054689057
NM_001113378.2(FANCI):c.3591+4A>T rs774180579
NM_001113378.2(FANCI):c.898G>T (p.Asp300Tyr) rs1567151740
NM_001113378.2(FANCI):c.998C>T (p.Ser333Leu) rs761982725
NM_001113525.2(ZNF276):c.*475A>T rs2151710077
NM_001113525.2(ZNF276):c.*630C>T rs374793201
NM_004629.2(FANCG):c.1643G>A (p.Arg548Gln) rs1587138702
NM_004629.2(FANCG):c.1663C>T (p.Leu555Phe) rs2131051917
NM_004629.2(FANCG):c.308-25_308-12del rs1563987234
NM_004629.2(FANCG):c.337A>G (p.Arg113Gly) rs2131058590
NM_004629.2(FANCG):c.616G>A (p.Val206Ile) rs768648609
NM_004629.2(FANCG):c.706G>A (p.Ala236Thr) rs2131056564
NM_004629.2(FANCG):c.844C>T (p.Pro282Ser) rs770009374
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs) rs750871999
NM_018062.4(FANCL):c.478G>A (p.Ala160Thr) rs2105101201
NM_018062.4(FANCL):c.637G>C (p.Val213Leu) rs2104817334
NM_021922.3(FANCE):c.1276A>G (p.Met426Val) rs764652720
NM_021922.3(FANCE):c.224A>C (p.Gln75Pro) rs1309426375
NM_021922.3(FANCE):c.313G>A (p.Val105Ile) rs373159305
NM_021922.3(FANCE):c.86T>A (p.Leu29Gln) rs2150885592
NM_021922.3(FANCE):c.901-5C>A rs747168225
NM_022725.4(FANCF):c.1001C>T (p.Ala334Val) rs772941983
NM_022725.4(FANCF):c.281C>T (p.Ser94Phe) rs1454810693
NM_022725.4(FANCF):c.412C>A (p.Arg138Ser) rs565372884
NM_022725.4(FANCF):c.688C>T (p.Pro230Ser) rs773724648
NM_022725.4(FANCF):c.696G>C (p.Glu232Asp) rs1590541131
NM_022725.4(FANCF):c.70A>T (p.Ser24Cys) rs1858638724
NM_032444.4(SLX4):c.1115G>T (p.Arg372Leu) rs372956623
NM_032444.4(SLX4):c.1123A>C (p.Thr375Pro) rs2151133974
NM_032444.4(SLX4):c.1164-9G>A rs2040686112
NM_032444.4(SLX4):c.1672C>T (p.Arg558Trp) rs372264472
NM_032444.4(SLX4):c.1720C>G (p.Pro574Ala) rs2040659325
NM_032444.4(SLX4):c.1928T>C (p.Leu643Ser) rs2151129378
NM_032444.4(SLX4):c.2168A>G (p.Asn723Ser) rs2151127319
NM_032444.4(SLX4):c.2371A>G (p.Ile791Val) rs1422973391
NM_032444.4(SLX4):c.2960T>C (p.Phe987Ser) rs2040576468
NM_032444.4(SLX4):c.4003G>A (p.Gly1335Ser) rs367562934
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn) rs142205392
NM_032444.4(SLX4):c.420G>T (p.Glu140Asp) rs753015235
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.42G>C (p.Leu14Phe) rs1332832206
NM_032444.4(SLX4):c.4384G>A (p.Ala1462Thr) rs138484365
NM_032444.4(SLX4):c.4485G>A (p.Ala1495=) rs140872903
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser) rs199592185
NM_032444.4(SLX4):c.660C>A (p.Asp220Glu) rs767206967
NM_032444.4(SLX4):c.761T>A (p.Val254Glu) rs776582706

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