ClinVar Miner

List of variants reported as uncertain significance for anemia by Sema4, Sema4

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 339
Download table as spreadsheet
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_000135.4(FANCA):c.4261-9C>G 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.4168-11T>C rs753475025 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_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.4260+6G>A rs374793201
NM_000135.4(FANCA):c.4261-13T>A rs2151710077
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_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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.