ClinVar Miner

List of variants in gene FANCB studied for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 575
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HGVS dbSNP gnomAD frequency
NM_001018113.3(FANCB):c.-173G>C rs2188383 0.63320
NM_001018113.3(FANCB):c.1327-10T>C rs2905223 0.53797
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679 0.05446
NM_001018113.3(FANCB):c.*14T>C rs2375726 0.02466
NM_001018113.3(FANCB):c.-229T>G rs149617434 0.00830
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208 0.00701
NM_001018113.3(FANCB):c.*66T>G rs143434225 0.00525
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) rs145110602 0.00343
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_001018113.3(FANCB):c.*33T>C rs187611308 0.00068
NM_001018113.3(FANCB):c.262G>A (p.Gly88Arg) rs142101123 0.00058
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His) rs140198444 0.00053
NM_001018113.3(FANCB):c.69T>C (p.Leu23=) rs151173533 0.00047
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr) rs200161949 0.00047
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu) rs142304943 0.00046
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) rs146157131 0.00039
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro) rs143976596 0.00038
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218 0.00038
NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu) rs147255018 0.00036
NM_001018113.3(FANCB):c.2228T>G (p.Phe743Cys) rs747865842 0.00031
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) rs201436396 0.00031
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930 0.00029
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=) rs192743430 0.00024
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) rs199909156 0.00020
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151 0.00019
NM_001018113.3(FANCB):c.507T>C (p.Ser169=) rs149609970 0.00019
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly) rs148257882 0.00015
NM_001018113.3(FANCB):c.869T>C (p.Met290Thr) rs754552650 0.00014
NM_001018113.3(FANCB):c.960T>G (p.Ala320=) rs139045247 0.00014
NM_001018113.3(FANCB):c.*151A>G rs1480015600 0.00011
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) rs140363445 0.00010
NM_001018113.3(FANCB):c.504C>G (p.Ser168=) rs373738816 0.00010
NM_001018113.3(FANCB):c.801A>C (p.Ser267=) rs773005941 0.00010
NM_001018113.3(FANCB):c.-111A>G rs185118376 0.00009
NM_001018113.3(FANCB):c.-232G>A rs756766337 0.00009
NM_001018113.3(FANCB):c.1570C>G (p.Gln524Glu) rs370248837 0.00009
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) rs148560784 0.00009
NM_001018113.3(FANCB):c.414T>A (p.Asn138Lys) rs201281219 0.00009
NM_001018113.3(FANCB):c.-230A>T rs1020271259 0.00008
NM_001018113.3(FANCB):c.1077A>T (p.Ile359=) rs191379403 0.00008
NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile) rs771007866 0.00008
NM_001018113.3(FANCB):c.330A>C (p.Leu110=) rs201633684 0.00008
NM_001018113.3(FANCB):c.362G>A (p.Arg121His) rs142289802 0.00008
NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg) rs150435015 0.00008
NM_001018113.3(FANCB):c.2265A>G (p.Leu755=) rs777812135 0.00006
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_001018113.3(FANCB):c.1838G>A (p.Arg613His) rs144764663 0.00005
NM_001018113.3(FANCB):c.197C>T (p.Thr66Ile) rs750180189 0.00005
NM_001018113.3(FANCB):c.2146A>T (p.Ile716Phe) rs373141774 0.00005
NM_001018113.3(FANCB):c.2165+10A>T rs184385334 0.00005
NM_001018113.3(FANCB):c.2267T>C (p.Ile756Thr) rs756392097 0.00005
NM_001018113.3(FANCB):c.388A>G (p.Met130Val) rs776724055 0.00005
NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly) rs866138487 0.00004
NM_001018113.3(FANCB):c.1323G>A (p.Glu441=) rs1015824799 0.00004
NM_001018113.3(FANCB):c.162A>G (p.Thr54=) rs748284861 0.00004
NM_001018113.3(FANCB):c.2394C>T (p.Val798=) rs190579053 0.00004
NM_001018113.3(FANCB):c.493G>C (p.Gly165Arg) rs146131050 0.00004
NM_001018113.3(FANCB):c.513G>A (p.Gln171=) rs763353362 0.00004
NM_001018113.3(FANCB):c.1103C>T (p.Ser368Leu) rs143585647 0.00003
NM_001018113.3(FANCB):c.1267T>C (p.Tyr423His) rs776805534 0.00003
NM_001018113.3(FANCB):c.1638A>T (p.Gly546=) rs753355273 0.00003
NM_001018113.3(FANCB):c.1899A>G (p.Leu633=) rs1232908863 0.00003
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala) rs184796918 0.00003
NM_001018113.3(FANCB):c.2435A>G (p.Tyr812Cys) rs780116069 0.00003
NM_001018113.3(FANCB):c.256A>G (p.Arg86Gly) rs1041477988 0.00003
NM_001018113.3(FANCB):c.510T>G (p.Ile170Met) rs775216604 0.00003
NM_001018113.3(FANCB):c.677T>C (p.Ile226Thr) rs1275915380 0.00003
NM_001018113.3(FANCB):c.76C>G (p.Gln26Glu) rs1316961996 0.00003
NM_001018113.3(FANCB):c.7A>G (p.Ser3Gly) rs139111718 0.00003
NM_001018113.3(FANCB):c.1042T>C (p.Ser348Pro) rs1425904046 0.00002
NM_001018113.3(FANCB):c.1079C>T (p.Thr360Met) rs138192474 0.00002
NM_001018113.3(FANCB):c.1159C>T (p.Arg387Cys) rs145542355 0.00002
NM_001018113.3(FANCB):c.1251A>C (p.Lys417Asn) rs1296333300 0.00002
NM_001018113.3(FANCB):c.1327-11_1327-10insC rs1312589379 0.00002
NM_001018113.3(FANCB):c.1331A>T (p.Glu444Val) rs368679125 0.00002
NM_001018113.3(FANCB):c.1349G>A (p.Cys450Tyr) rs764817410 0.00002
NM_001018113.3(FANCB):c.1702C>T (p.His568Tyr) rs763091316 0.00002
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro) rs943801800 0.00002
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) rs761346761 0.00002
NM_001018113.3(FANCB):c.2301A>C (p.Leu767=) rs962222970 0.00002
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) rs761492600 0.00002
NM_001018113.3(FANCB):c.2385T>C (p.Ser795=) rs1034395123 0.00002
NM_001018113.3(FANCB):c.2517T>C (p.Thr839=) rs760440816 0.00002
NM_001018113.3(FANCB):c.2553T>C (p.Phe851=) rs759020755 0.00002
NM_001018113.3(FANCB):c.2554G>A (p.Ala852Thr) rs770685871 0.00002
NM_001018113.3(FANCB):c.458T>A (p.Ile153Asn) rs749099779 0.00002
NM_001018113.3(FANCB):c.552G>A (p.Leu184=) rs771998496 0.00002
NM_001018113.3(FANCB):c.653A>C (p.Glu218Ala) rs781051710 0.00002
NM_001018113.3(FANCB):c.679T>C (p.Tyr227His) rs1398803909 0.00002
NM_001018113.3(FANCB):c.688C>T (p.Pro230Ser) rs200970121 0.00002
NM_001018113.3(FANCB):c.741C>A (p.Ile247=) rs760773732 0.00002
NM_001018113.3(FANCB):c.1105A>G (p.Ser369Gly) rs1422244944 0.00001
NM_001018113.3(FANCB):c.111T>C (p.Pro37=) rs1172968993 0.00001
NM_001018113.3(FANCB):c.1120T>C (p.Cys374Arg) rs781251036 0.00001
NM_001018113.3(FANCB):c.113C>T (p.Thr38Ile) rs2092465105 0.00001
NM_001018113.3(FANCB):c.1149A>G (p.Lys383=) rs751649474 0.00001
NM_001018113.3(FANCB):c.1160G>A (p.Arg387His) rs757202355 0.00001
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=) rs764156696 0.00001
NM_001018113.3(FANCB):c.1225C>T (p.Arg409Trp) rs750569208 0.00001
NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln) rs753030842 0.00001
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) rs1057515805 0.00001
NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met) rs772802668 0.00001
NM_001018113.3(FANCB):c.1314A>C (p.Ser438=) rs2092408394 0.00001
NM_001018113.3(FANCB):c.1318G>A (p.Ala440Thr) rs1313938907 0.00001
NM_001018113.3(FANCB):c.1327-1G>A rs1295003944 0.00001
NM_001018113.3(FANCB):c.1342C>A (p.Pro448Thr) rs867778700 0.00001
NM_001018113.3(FANCB):c.1441C>T (p.Arg481Cys) rs2092396737 0.00001
NM_001018113.3(FANCB):c.1496T>C (p.Leu499Pro) rs935080919 0.00001
NM_001018113.3(FANCB):c.1552T>A (p.Phe518Ile) rs373632536 0.00001
NM_001018113.3(FANCB):c.1556G>A (p.Arg519Gln) rs1379342414 0.00001
NM_001018113.3(FANCB):c.1582A>G (p.Ile528Val) rs749342600 0.00001
NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser) rs773313492 0.00001
NM_001018113.3(FANCB):c.1610C>T (p.Ala537Val) rs752804063 0.00001
NM_001018113.3(FANCB):c.1659G>A (p.Thr553=) rs767952529 0.00001
NM_001018113.3(FANCB):c.1670A>T (p.Asp557Val) rs1336185048 0.00001
NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp) rs773221142 0.00001
NM_001018113.3(FANCB):c.1736C>T (p.Thr579Ile) rs771950360 0.00001
NM_001018113.3(FANCB):c.1746A>G (p.Thr582=) rs1228686996 0.00001
NM_001018113.3(FANCB):c.1755A>G (p.Ser585=) rs745472535 0.00001
NM_001018113.3(FANCB):c.1763T>C (p.Leu588Ser) rs1298952108 0.00001
NM_001018113.3(FANCB):c.1785C>G (p.Cys595Trp) rs1317998053 0.00001
NM_001018113.3(FANCB):c.17C>A (p.Ala6Glu) rs780032769 0.00001
NM_001018113.3(FANCB):c.183C>T (p.Ser61=) rs1317100453 0.00001
NM_001018113.3(FANCB):c.1894T>G (p.Tyr632Asp) rs149387792 0.00001
NM_001018113.3(FANCB):c.18A>G (p.Ala6=) rs2092465606 0.00001
NM_001018113.3(FANCB):c.1912A>G (p.Lys638Glu) rs776713934 0.00001
NM_001018113.3(FANCB):c.1924A>G (p.Ile642Val) rs370765798 0.00001
NM_001018113.3(FANCB):c.1928-20G>T rs780575945 0.00001
NM_001018113.3(FANCB):c.1957G>A (p.Ala653Thr) rs1220308530 0.00001
NM_001018113.3(FANCB):c.1972T>A (p.Ser658Thr) rs1440633578 0.00001
NM_001018113.3(FANCB):c.2015T>C (p.Met672Thr) rs377268147 0.00001
NM_001018113.3(FANCB):c.2019G>C (p.Lys673Asn) rs1416043928 0.00001
NM_001018113.3(FANCB):c.2098T>C (p.Phe700Leu) rs1232355920 0.00001
NM_001018113.3(FANCB):c.2117C>T (p.Thr706Ile) rs1278850689 0.00001
NM_001018113.3(FANCB):c.2144G>T (p.Gly715Val) rs1389308960 0.00001
NM_001018113.3(FANCB):c.2159A>G (p.Tyr720Cys) rs758926056 0.00001
NM_001018113.3(FANCB):c.2173A>G (p.Thr725Ala) rs765112491 0.00001
NM_001018113.3(FANCB):c.2218A>G (p.Ile740Val) rs746453967 0.00001
NM_001018113.3(FANCB):c.2293A>G (p.Lys765Glu) rs767721906 0.00001
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly) rs750381270 0.00001
NM_001018113.3(FANCB):c.2379A>G (p.Gly793=) rs1374912480 0.00001
NM_001018113.3(FANCB):c.2391C>T (p.Val797=) rs778731279 0.00001
NM_001018113.3(FANCB):c.2420A>C (p.Glu807Ala) rs1020168794 0.00001
NM_001018113.3(FANCB):c.2438G>T (p.Arg813Ile) rs995483698 0.00001
NM_001018113.3(FANCB):c.2521A>G (p.Lys841Glu) rs767194178 0.00001
NM_001018113.3(FANCB):c.2530G>A (p.Glu844Lys) rs1247789556 0.00001
NM_001018113.3(FANCB):c.2563A>G (p.Lys855Glu) rs773885877 0.00001
NM_001018113.3(FANCB):c.318A>G (p.Glu106=) rs1215227353 0.00001
NM_001018113.3(FANCB):c.341G>A (p.Ser114Asn) rs1254494594 0.00001
NM_001018113.3(FANCB):c.361C>T (p.Arg121Cys) rs145928137 0.00001
NM_001018113.3(FANCB):c.440T>C (p.Val147Ala) rs757074045 0.00001
NM_001018113.3(FANCB):c.521G>A (p.Gly174Glu) rs1316359856 0.00001
NM_001018113.3(FANCB):c.526A>T (p.Ile176Phe) rs1208436363 0.00001
NM_001018113.3(FANCB):c.52T>C (p.Tyr18His) rs996732250 0.00001
NM_001018113.3(FANCB):c.587G>A (p.Cys196Tyr) rs1366041068 0.00001
NM_001018113.3(FANCB):c.609A>C (p.Ser203=) rs1206454126 0.00001
NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln) rs747819351 0.00001
NM_001018113.3(FANCB):c.662A>G (p.Glu221Gly) rs1265222877 0.00001
NM_001018113.3(FANCB):c.667T>C (p.Leu223=) rs1308832555 0.00001
NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu) rs374217132 0.00001
NM_001018113.3(FANCB):c.814A>G (p.Thr272Ala) rs769701122 0.00001
NM_001018113.3(FANCB):c.884G>A (p.Gly295Glu) rs1270593506 0.00001
NM_001018113.3(FANCB):c.897C>T (p.Phe299=) rs753443421 0.00001
NM_001018113.3(FANCB):c.898G>T (p.Val300Phe) rs757610875 0.00001
NM_001018113.3(FANCB):c.910A>G (p.Ile304Val) rs754238911 0.00001
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) rs1057515808 0.00001
NM_001018113.3(FANCB):c.923C>T (p.Ala308Val) rs1242186487 0.00001
NM_001018113.3(FANCB):c.939A>G (p.Lys313=) rs767512088 0.00001
NM_001018113.3(FANCB):c.959C>A (p.Ala320Asp) rs1246382467 0.00001
FANCB, 3314-BP DEL
NC_000023.10:g.(?_14861689)_(14877476_?)dup
NC_000023.10:g.(?_14861689)_(14891184_?)del
NC_000023.10:g.(?_14875974)_(14891184_?)del
NC_000023.11:g.(?_14843557)_(14873062_?)dup
NC_000023.11:g.(?_14857852)_(14859344_?)del
NM_001018113.1(FANCB):c.(?_-268)_(*160_?)del
NM_001018113.3(FANCB):c.-191-13C>T rs2147458807
NM_001018113.3(FANCB):c.-219G>T rs373175926
NM_001018113.3(FANCB):c.1003G>A (p.Gly335Arg)
NM_001018113.3(FANCB):c.1009G>A (p.Gly337Arg) rs2147429068
NM_001018113.3(FANCB):c.1010G>A (p.Gly337Glu)
NM_001018113.3(FANCB):c.1021G>A (p.Val341Ile) rs2092436307
NM_001018113.3(FANCB):c.1062G>A (p.Leu354=)
NM_001018113.3(FANCB):c.1064C>T (p.Thr355Ile)
NM_001018113.3(FANCB):c.1068A>G (p.Ser356=)
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.3(FANCB):c.1080G>A (p.Thr360=)
NM_001018113.3(FANCB):c.1080G>C (p.Thr360=) rs754983238
NM_001018113.3(FANCB):c.1103C>A (p.Ser368Ter) rs143585647
NM_001018113.3(FANCB):c.1104+10A>G
NM_001018113.3(FANCB):c.1104+11T>C
NM_001018113.3(FANCB):c.1104+18A>C
NM_001018113.3(FANCB):c.1104+20T>G
NM_001018113.3(FANCB):c.1104+20_1104+22del
NM_001018113.3(FANCB):c.1104+4A>G rs1555906676
NM_001018113.3(FANCB):c.1104G>A (p.Ser368=)
NM_001018113.3(FANCB):c.1105-16T>A
NM_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001018113.3(FANCB):c.1105-26TATT[5] rs398123537
NM_001018113.3(FANCB):c.1105-26TATT[7] rs398123537
NM_001018113.3(FANCB):c.1105-4T>C rs2147425181
NM_001018113.3(FANCB):c.1105-5A>G
NM_001018113.3(FANCB):c.1105-7T>G
NM_001018113.3(FANCB):c.1105-9A>T
NM_001018113.3(FANCB):c.1107T>G (p.Ser369Arg)
NM_001018113.3(FANCB):c.1110A>G (p.Glu370=)
NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly) rs2147425036
NM_001018113.3(FANCB):c.1133A>C (p.Asp378Ala) rs1569088991
NM_001018113.3(FANCB):c.1134C>T (p.Asp378=)
NM_001018113.3(FANCB):c.1159_1162dup (p.Tyr388fs)
NM_001018113.3(FANCB):c.1167G>T (p.Leu389=)
NM_001018113.3(FANCB):c.1177C>T (p.Pro393Ser)
NM_001018113.3(FANCB):c.1182A>G (p.Leu394=)
NM_001018113.3(FANCB):c.118A>G (p.Thr40Ala)
NM_001018113.3(FANCB):c.1191A>G (p.Gly397=) rs2147424764
NM_001018113.3(FANCB):c.1192C>A (p.Leu398Met)
NM_001018113.3(FANCB):c.1197+10T>C
NM_001018113.3(FANCB):c.1197+11G>A rs2147424729
NM_001018113.3(FANCB):c.1197+13_1197+15del rs2147424707
NM_001018113.3(FANCB):c.1197+19_1197+21del rs755825913
NM_001018113.3(FANCB):c.1197+8T>C
NM_001018113.3(FANCB):c.1198-3C>T
NM_001018113.3(FANCB):c.1212T>G (p.Ser404=)
NM_001018113.3(FANCB):c.1215T>A (p.Phe405Leu)
NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp) rs1364046604
NM_001018113.3(FANCB):c.1234C>T (p.Leu412=)
NM_001018113.3(FANCB):c.123C>T (p.Pro41=)
NM_001018113.3(FANCB):c.1243A>G (p.Lys415Glu)
NM_001018113.3(FANCB):c.124A>G (p.Ile42Val) rs2147447859
NM_001018113.3(FANCB):c.1251A>G (p.Lys417=)
NM_001018113.3(FANCB):c.1256T>C (p.Ile419Thr)
NM_001018113.3(FANCB):c.1257T>C (p.Ile419=) rs1601989714
NM_001018113.3(FANCB):c.1269C>T (p.Tyr423=)
NM_001018113.3(FANCB):c.1288G>A (p.Val430Ile) rs1018343095
NM_001018113.3(FANCB):c.128T>C (p.Leu43Ser) rs1602006737
NM_001018113.3(FANCB):c.1300GAT[1] (p.Asp435del)
NM_001018113.3(FANCB):c.1304A>G (p.Asp435Gly)
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg) rs776802337
NM_001018113.3(FANCB):c.131A>C (p.His44Pro) rs2092464968
NM_001018113.3(FANCB):c.1325A>C (p.Glu442Ala) rs2092408275
NM_001018113.3(FANCB):c.1326+13A>G
NM_001018113.3(FANCB):c.1326+13_1326+14del
NM_001018113.3(FANCB):c.1326+16T>C rs747443650
NM_001018113.3(FANCB):c.1326+18A>G
NM_001018113.3(FANCB):c.1326+7G>C
NM_001018113.3(FANCB):c.1326+7del
NM_001018113.3(FANCB):c.1327-10T>A
NM_001018113.3(FANCB):c.1327-12dup rs202067682
NM_001018113.3(FANCB):c.1327-17T>G
NM_001018113.3(FANCB):c.1327-19_1327-16del rs766440560
NM_001018113.3(FANCB):c.1327-3del rs202067682
NM_001018113.3(FANCB):c.1342C>T (p.Pro448Ser) rs867778700
NM_001018113.3(FANCB):c.1369G>A (p.Val457Ile)
NM_001018113.3(FANCB):c.1372C>T (p.His458Tyr) rs1601985554
NM_001018113.3(FANCB):c.1373A>G (p.His458Arg)
NM_001018113.3(FANCB):c.1383T>C (p.Asp461=) rs2147405012
NM_001018113.3(FANCB):c.1393T>A (p.Ser465Thr)
NM_001018113.3(FANCB):c.1406A>T (p.Gln469Leu)
NM_001018113.3(FANCB):c.1407A>G (p.Gln469=) rs2092396901
NM_001018113.3(FANCB):c.1428G>A (p.Glu476=)
NM_001018113.3(FANCB):c.1437G>A (p.Trp479Ter) rs2147404831
NM_001018113.3(FANCB):c.1440T>C (p.Tyr480=)
NM_001018113.3(FANCB):c.1458C>G (p.Ser486Arg) rs2092396657
NM_001018113.3(FANCB):c.1480A>G (p.Thr494Ala) rs1601985311
NM_001018113.3(FANCB):c.1487C>G (p.Ser496Cys) rs993307430
NM_001018113.3(FANCB):c.1487C>T (p.Ser496Phe) rs993307430
NM_001018113.3(FANCB):c.1496+10T>C
NM_001018113.3(FANCB):c.1496+14A>G
NM_001018113.3(FANCB):c.1496+16C>A
NM_001018113.3(FANCB):c.1496+18dup
NM_001018113.3(FANCB):c.1496+19_1496+21del
NM_001018113.3(FANCB):c.1496+5G>A rs1569085810
NM_001018113.3(FANCB):c.1496+8A>T
NM_001018113.3(FANCB):c.1497-12G>T
NM_001018113.3(FANCB):c.1497-18del
NM_001018113.3(FANCB):c.1497-20A>G
NM_001018113.3(FANCB):c.1497G>T (p.Leu499=)
NM_001018113.3(FANCB):c.1497_2580del (p.Ser500fs)
NM_001018113.3(FANCB):c.1501C>G (p.Leu501Val) rs2147391420
NM_001018113.3(FANCB):c.1514C>G (p.Thr505Ser)
NM_001018113.3(FANCB):c.1521A>G (p.Ser507=)
NM_001018113.3(FANCB):c.1521A>T (p.Ser507=)
NM_001018113.3(FANCB):c.153C>G (p.Asp51Glu)
NM_001018113.3(FANCB):c.153C>T (p.Asp51=)
NM_001018113.3(FANCB):c.1541A>G (p.His514Arg) rs1555904475
NM_001018113.3(FANCB):c.1542T>C (p.His514=)
NM_001018113.3(FANCB):c.1549A>G (p.Arg517Gly)
NM_001018113.3(FANCB):c.1563A>G (p.Leu521=)
NM_001018113.3(FANCB):c.1566G>A (p.Lys522=) rs2092371545
NM_001018113.3(FANCB):c.1569T>C (p.Cys523=)
NM_001018113.3(FANCB):c.1578G>T (p.Arg526Ser)
NM_001018113.3(FANCB):c.1579G>A (p.Val527Met)
NM_001018113.3(FANCB):c.1581G>T (p.Val527=)
NM_001018113.3(FANCB):c.1586A>C (p.Lys529Thr)
NM_001018113.3(FANCB):c.1605C>G (p.Phe535Leu) rs1555904458
NM_001018113.3(FANCB):c.1611A>G (p.Ala537=)
NM_001018113.3(FANCB):c.1613C>G (p.Pro538Arg) rs2147391147
NM_001018113.3(FANCB):c.1614A>G (p.Pro538=)
NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His) rs2147391126
NM_001018113.3(FANCB):c.1617C>T (p.Tyr539=)
NM_001018113.3(FANCB):c.1620G>A (p.Leu540=)
NM_001018113.3(FANCB):c.1624C>T (p.Pro542Ser) rs868761818
NM_001018113.3(FANCB):c.1626A>G (p.Pro542=) rs1277532078
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys) rs2092370985
NM_001018113.3(FANCB):c.1654G>T (p.Val552Phe)
NM_001018113.3(FANCB):c.1655T>C (p.Val552Ala) rs1569083698
NM_001018113.3(FANCB):c.1664C>T (p.Thr555Ile) rs2092370867
NM_001018113.3(FANCB):c.1668del (p.Asp557fs) rs1569083679
NM_001018113.3(FANCB):c.1683G>A (p.Glu561=)
NM_001018113.3(FANCB):c.1694T>C (p.Val565Ala)
NM_001018113.3(FANCB):c.16G>A (p.Ala6Thr) rs5935815
NM_001018113.3(FANCB):c.1701A>G (p.Glu567=)
NM_001018113.3(FANCB):c.1703A>C (p.His568Pro) rs2092370560
NM_001018113.3(FANCB):c.1707A>G (p.Pro569=) rs1555904427
NM_001018113.3(FANCB):c.1708T>C (p.Ser570Pro)
NM_001018113.3(FANCB):c.171T>C (p.Phe57=)
NM_001018113.3(FANCB):c.1725A>G (p.Val575=)
NM_001018113.3(FANCB):c.1726C>G (p.Gln576Glu)
NM_001018113.3(FANCB):c.1727A>G (p.Gln576Arg)
NM_001018113.3(FANCB):c.1757C>T (p.Pro586Leu)
NM_001018113.3(FANCB):c.1759C>G (p.Leu587Val)
NM_001018113.3(FANCB):c.1765A>G (p.Thr589Ala)
NM_001018113.3(FANCB):c.1767A>G (p.Thr589=) rs964099207
NM_001018113.3(FANCB):c.177G>A (p.Gln59=) rs1602006672
NM_001018113.3(FANCB):c.1787C>A (p.Thr596Asn)
NM_001018113.3(FANCB):c.1788T>C (p.Thr596=)
NM_001018113.3(FANCB):c.1800A>G (p.Gln600=) rs2147390430
NM_001018113.3(FANCB):c.1811_1814del (p.Arg604fs) rs1601977912
NM_001018113.3(FANCB):c.1818T>C (p.Ser606=)
NM_001018113.3(FANCB):c.1819G>A (p.Gly607Ser)
NM_001018113.3(FANCB):c.1826G>A (p.Cys609Tyr)
NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro) rs144764663
NM_001018113.3(FANCB):c.1840T>C (p.Tyr614His)
NM_001018113.3(FANCB):c.1856_1857insT (p.Arg619fs) rs1601977844
NM_001018113.3(FANCB):c.1857_1858del (p.Arg619fs) rs1569083464
NM_001018113.3(FANCB):c.1858G>A (p.Val620Ile) rs2092369531
NM_001018113.3(FANCB):c.1865T>C (p.Leu622Ser)
NM_001018113.3(FANCB):c.1872A>C (p.Leu624=)
NM_001018113.3(FANCB):c.1887T>G (p.Thr629=)
NM_001018113.3(FANCB):c.1896C>T (p.Tyr632=)
NM_001018113.3(FANCB):c.1927+13G>C
NM_001018113.3(FANCB):c.1927+16C>T
NM_001018113.3(FANCB):c.1927+8T>A
NM_001018113.3(FANCB):c.1927+9del
NM_001018113.3(FANCB):c.1928-5del
NM_001018113.3(FANCB):c.1928-5dup
NM_001018113.3(FANCB):c.1928-6_1928-5del
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=) rs2092368698
NM_001018113.3(FANCB):c.192T>C (p.Phe64=)
NM_001018113.3(FANCB):c.1930C>T (p.His644Tyr)
NM_001018113.3(FANCB):c.1940A>T (p.Asp647Val)
NM_001018113.3(FANCB):c.1950A>G (p.Ala650=)
NM_001018113.3(FANCB):c.195dup (p.Thr66fs) rs1602006627
NM_001018113.3(FANCB):c.1970A>G (p.Lys657Arg) rs2092368529
NM_001018113.3(FANCB):c.1991C>T (p.Ser664Leu) rs1555904350
NM_001018113.3(FANCB):c.1992A>T (p.Ser664=) rs2147389619
NM_001018113.3(FANCB):c.2000A>C (p.Tyr667Ser)
NM_001018113.3(FANCB):c.2020G>A (p.Val674Met)
NM_001018113.3(FANCB):c.2020G>C (p.Val674Leu) rs2092368233
NM_001018113.3(FANCB):c.2021T>C (p.Val674Ala)
NM_001018113.3(FANCB):c.2027T>C (p.Leu676Pro) rs1601977531
NM_001018113.3(FANCB):c.2035C>T (p.His679Tyr)
NM_001018113.3(FANCB):c.203A>G (p.Lys68Arg) rs2147447567
NM_001018113.3(FANCB):c.2047G>A (p.Glu683Lys) rs2147389460
NM_001018113.3(FANCB):c.2053A>G (p.Ile685Val)
NM_001018113.3(FANCB):c.2055C>G (p.Ile685Met)
NM_001018113.3(FANCB):c.2059G>T (p.Glu687Ter) rs1601977510
NM_001018113.3(FANCB):c.207A>G (p.Glu69=)
NM_001018113.3(FANCB):c.2091G>A (p.Pro697=)
NM_001018113.3(FANCB):c.2093G>C (p.Gly698Ala)
NM_001018113.3(FANCB):c.2100C>T (p.Phe700=)
NM_001018113.3(FANCB):c.2107A>T (p.Thr703Ser) rs2092367669
NM_001018113.3(FANCB):c.2109A>G (p.Thr703=) rs1555904303
NM_001018113.3(FANCB):c.2112C>T (p.Leu704=)
NM_001018113.3(FANCB):c.2125C>G (p.Gln709Glu) rs1060501875
NM_001018113.3(FANCB):c.2136A>G (p.Pro712=)
NM_001018113.3(FANCB):c.2139C>A (p.Phe713Leu)
NM_001018113.3(FANCB):c.2139C>T (p.Phe713=)
NM_001018113.3(FANCB):c.2140G>A (p.Glu714Lys) rs868748586
NM_001018113.3(FANCB):c.2142A>G (p.Glu714=) rs2147389159
NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter) rs1569083185
NM_001018113.3(FANCB):c.2154A>G (p.Ile718Met) rs2092367373
NM_001018113.3(FANCB):c.2165+12T>G
NM_001018113.3(FANCB):c.2165+18G>A
NM_001018113.3(FANCB):c.2165+18G>T
NM_001018113.3(FANCB):c.2165+1G>T rs1601977379
NM_001018113.3(FANCB):c.2165+2T>G rs2147389062
NM_001018113.3(FANCB):c.2165+6G>A
NM_001018113.3(FANCB):c.2165G>T (p.Arg722Met)
NM_001018113.3(FANCB):c.2166-14T>C
NM_001018113.3(FANCB):c.2166-15_2166-12del
NM_001018113.3(FANCB):c.2166-8del
NM_001018113.3(FANCB):c.2166-9T>C rs2147387583
NM_001018113.3(FANCB):c.2168A>G (p.Asn723Ser) rs1300715683
NM_001018113.3(FANCB):c.2172_2175del (p.Thr725fs) rs1601976655
NM_001018113.3(FANCB):c.2190C>T (p.Cys730=)
NM_001018113.3(FANCB):c.2193T>G (p.Leu731=) rs2147387445
NM_001018113.3(FANCB):c.2195A>G (p.His732Arg)
NM_001018113.3(FANCB):c.2201TCA[1] (p.Ile735del)
NM_001018113.3(FANCB):c.2206A>G (p.Arg736Gly)
NM_001018113.3(FANCB):c.2214C>A (p.Leu738=)
NM_001018113.3(FANCB):c.2214C>G (p.Leu738=)
NM_001018113.3(FANCB):c.2219T>C (p.Ile740Thr)
NM_001018113.3(FANCB):c.2222A>T (p.Asn741Ile)
NM_001018113.3(FANCB):c.2223C>G (p.Asn741Lys)
NM_001018113.3(FANCB):c.2224T>C (p.Cys742Arg) rs2092364017
NM_001018113.3(FANCB):c.2228T>A (p.Phe743Tyr)
NM_001018113.3(FANCB):c.2229C>T (p.Phe743=)
NM_001018113.3(FANCB):c.2238T>C (p.Asn746=)
NM_001018113.3(FANCB):c.2241A>C (p.Leu747=) rs2147387279
NM_001018113.3(FANCB):c.2244A>G (p.Lys748=)
NM_001018113.3(FANCB):c.2249_2252del (p.Gly750fs) rs1601976527
NM_001018113.3(FANCB):c.2271T>C (p.Asp757=)
NM_001018113.3(FANCB):c.2275A>G (p.Met759Val)
NM_001018113.3(FANCB):c.2276T>C (p.Met759Thr)
NM_001018113.3(FANCB):c.2280A>T (p.Ala760=)
NM_001018113.3(FANCB):c.2291A>C (p.Glu764Ala)
NM_001018113.3(FANCB):c.2299C>T (p.Leu767=)
NM_001018113.3(FANCB):c.229A>G (p.Met77Val)
NM_001018113.3(FANCB):c.2301A>G (p.Leu767=)
NM_001018113.3(FANCB):c.2322T>G (p.Ser774=)
NM_001018113.3(FANCB):c.2328C>T (p.Ala776=)
NM_001018113.3(FANCB):c.2329A>G (p.Ile777Val) rs776505971
NM_001018113.3(FANCB):c.2330T>C (p.Ile777Thr)
NM_001018113.3(FANCB):c.2331A>G (p.Ile777Met) rs1326031344
NM_001018113.3(FANCB):c.2340T>C (p.His780=)
NM_001018113.3(FANCB):c.2353A>G (p.Met785Val)
NM_001018113.3(FANCB):c.2359A>C (p.Arg787=)
NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg) rs879254329
NM_001018113.3(FANCB):c.2361G>A (p.Arg787=)
NM_001018113.3(FANCB):c.2370G>A (p.Val790=)
NM_001018113.3(FANCB):c.2371A>G (p.Ser791Gly) rs2147386876
NM_001018113.3(FANCB):c.2373C>G (p.Ser791Arg)
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=) rs2092363086
NM_001018113.3(FANCB):c.2391C>G (p.Val797=) rs778731279
NM_001018113.3(FANCB):c.2395G>A (p.Ala799Thr)
NM_001018113.3(FANCB):c.2397G>A (p.Ala799=)
NM_001018113.3(FANCB):c.23C>T (p.Ser8Leu)
NM_001018113.3(FANCB):c.2404T>C (p.Leu802=)
NM_001018113.3(FANCB):c.2406A>G (p.Leu802=)
NM_001018113.3(FANCB):c.2415A>G (p.Arg805=)
NM_001018113.3(FANCB):c.2428C>T (p.His810Tyr) rs2147386628
NM_001018113.3(FANCB):c.2433C>G (p.Pro811=) rs2147386620
NM_001018113.3(FANCB):c.2439A>C (p.Arg813Ser) rs748392793
NM_001018113.3(FANCB):c.2439A>G (p.Arg813=)
NM_001018113.3(FANCB):c.245T>C (p.Val82Ala) rs2147447420
NM_001018113.3(FANCB):c.2467A>G (p.Met823Val)
NM_001018113.3(FANCB):c.2470T>G (p.Leu824Val) rs1601976122
NM_001018113.3(FANCB):c.2477C>A (p.Thr826Lys) rs201436396
NM_001018113.3(FANCB):c.2485A>G (p.Lys829Glu)
NM_001018113.3(FANCB):c.2496T>A (p.Gly832=)
NM_001018113.3(FANCB):c.2507G>A (p.Arg836Lys)
NM_001018113.3(FANCB):c.2515A>G (p.Thr839Ala)
NM_001018113.3(FANCB):c.2520G>A (p.Leu840=)
NM_001018113.3(FANCB):c.2526A>T (p.Val842=)
NM_001018113.3(FANCB):c.2539T>C (p.Leu847=)
NM_001018113.3(FANCB):c.2553T>A (p.Phe851Leu) rs759020755
NM_001018113.3(FANCB):c.2556T>C (p.Ala852=)
NM_001018113.3(FANCB):c.2562G>A (p.Gln854=)
NM_001018113.3(FANCB):c.2565A>G (p.Lys855=)
NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer) rs2147386189
NM_001018113.3(FANCB):c.2575T>C (p.Leu859=)
NM_001018113.3(FANCB):c.2577A>G (p.Leu859=)
NM_001018113.3(FANCB):c.271C>T (p.Leu91Phe)
NM_001018113.3(FANCB):c.273C>T (p.Leu91=)
NM_001018113.3(FANCB):c.291A>G (p.Glu97=)
NM_001018113.3(FANCB):c.292A>G (p.Lys98Glu) rs2092464184
NM_001018113.3(FANCB):c.299A>G (p.Lys100Arg)
NM_001018113.3(FANCB):c.300A>G (p.Lys100=)
NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys) rs2147447239
NM_001018113.3(FANCB):c.30C>A (p.Asn10Lys) rs750078094
NM_001018113.3(FANCB):c.30C>G (p.Asn10Lys) rs750078094
NM_001018113.3(FANCB):c.30C>T (p.Asn10=)
NM_001018113.3(FANCB):c.331A>G (p.Ile111Val)
NM_001018113.3(FANCB):c.339C>T (p.His113=)
NM_001018113.3(FANCB):c.350A>C (p.Lys117Thr) rs1057515811
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) rs970828551
NM_001018113.3(FANCB):c.360G>A (p.Met120Ile)
NM_001018113.3(FANCB):c.372T>C (p.Phe124=)
NM_001018113.3(FANCB):c.376C>T (p.Leu126=) rs1602006225
NM_001018113.3(FANCB):c.378A>G (p.Leu126=)
NM_001018113.3(FANCB):c.381C>T (p.Gly127=)
NM_001018113.3(FANCB):c.388A>T (p.Met130Leu)
NM_001018113.3(FANCB):c.408C>T (p.Val136=)
NM_001018113.3(FANCB):c.417C>A (p.Gly139=)
NM_001018113.3(FANCB):c.417C>G (p.Gly139=)
NM_001018113.3(FANCB):c.419C>T (p.Pro140Leu)
NM_001018113.3(FANCB):c.41G>A (p.Arg14Lys)
NM_001018113.3(FANCB):c.41G>C (p.Arg14Thr)
NM_001018113.3(FANCB):c.434G>C (p.Arg145Thr)
NM_001018113.3(FANCB):c.439G>A (p.Val147Ile)
NM_001018113.3(FANCB):c.445G>A (p.Ala149Thr)
NM_001018113.3(FANCB):c.447A>G (p.Ala149=)
NM_001018113.3(FANCB):c.447A>T (p.Ala149=)
NM_001018113.3(FANCB):c.454T>C (p.Phe152Leu) rs2092463362
NM_001018113.3(FANCB):c.455_458del (p.Phe152fs)
NM_001018113.3(FANCB):c.461C>A (p.Ser154Tyr)
NM_001018113.3(FANCB):c.463T>C (p.Ser155Pro)
NM_001018113.3(FANCB):c.468A>G (p.Gln156=)
NM_001018113.3(FANCB):c.469A>G (p.Thr157Ala)
NM_001018113.3(FANCB):c.477A>C (p.Lys159Asn) rs1569092592
NM_001018113.3(FANCB):c.480T>A (p.Val160=)
NM_001018113.3(FANCB):c.483T>C (p.Val161=)
NM_001018113.3(FANCB):c.484A>C (p.Ser162Arg) rs2147446679
NM_001018113.3(FANCB):c.490T>C (p.Ser164Pro)
NM_001018113.3(FANCB):c.494G>A (p.Gly165Asp)
NM_001018113.3(FANCB):c.49T>C (p.Cys17Arg)
NM_001018113.3(FANCB):c.501T>C (p.Phe167=)
NM_001018113.3(FANCB):c.506C>T (p.Ser169Phe)
NM_001018113.3(FANCB):c.508A>G (p.Ile170Val) rs138251388
NM_001018113.3(FANCB):c.53A>T (p.Tyr18Phe)
NM_001018113.3(FANCB):c.554G>T (p.Gly185Val)
NM_001018113.3(FANCB):c.560A>G (p.Lys187Arg)
NM_001018113.3(FANCB):c.569G>A (p.Cys190Tyr) rs2147446437
NM_001018113.3(FANCB):c.591T>G (p.Thr197=)
NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro) rs2092462570
NM_001018113.3(FANCB):c.603A>C (p.Ser201=)
NM_001018113.3(FANCB):c.610G>T (p.Asp204Tyr)
NM_001018113.3(FANCB):c.611A>C (p.Asp204Ala)
NM_001018113.3(FANCB):c.615T>C (p.Tyr205=)
NM_001018113.3(FANCB):c.628A>G (p.Thr210Ala) rs2092462421
NM_001018113.3(FANCB):c.634T>C (p.Phe212Leu) rs2147446219
NM_001018113.3(FANCB):c.647C>G (p.Ser216Cys)
NM_001018113.3(FANCB):c.64G>A (p.Val22Ile)
NM_001018113.3(FANCB):c.659A>G (p.Gln220Arg)
NM_001018113.3(FANCB):c.664G>A (p.Val222Ile) rs2147446099
NM_001018113.3(FANCB):c.666A>G (p.Val222=)
NM_001018113.3(FANCB):c.681C>T (p.Tyr227=)
NM_001018113.3(FANCB):c.699C>T (p.Tyr233=)
NM_001018113.3(FANCB):c.702C>T (p.Ser234=)
NM_001018113.3(FANCB):c.706G>A (p.Val236Met) rs746389250
NM_001018113.3(FANCB):c.708G>A (p.Val236=) rs2147445876
NM_001018113.3(FANCB):c.716A>T (p.Tyr239Phe) rs1555907444
NM_001018113.3(FANCB):c.720A>G (p.Val240=)
NM_001018113.3(FANCB):c.722A>G (p.His241Arg) rs2147445804
NM_001018113.3(FANCB):c.735T>C (p.Thr245=)
NM_001018113.3(FANCB):c.744C>A (p.Ile248=)
NM_001018113.3(FANCB):c.755_767del (p.Leu252fs) rs1602005463
NM_001018113.3(FANCB):c.773C>T (p.Ala258Val)
NM_001018113.3(FANCB):c.774C>G (p.Ala258=) rs1168908937
NM_001018113.3(FANCB):c.77A>G (p.Gln26Arg)
NM_001018113.3(FANCB):c.781C>G (p.Arg261Gly)
NM_001018113.3(FANCB):c.781C>T (p.Arg261Ter) rs2147445599
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) rs1057515809
NM_001018113.3(FANCB):c.795G>A (p.Leu265=)
NM_001018113.3(FANCB):c.795G>T (p.Leu265=)
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser) rs2092461325
NM_001018113.3(FANCB):c.829dup (p.Cys277fs) rs1602005335
NM_001018113.3(FANCB):c.834G>C (p.Gln278His) rs1569092087
NM_001018113.3(FANCB):c.83C>G (p.Ser28Cys)
NM_001018113.3(FANCB):c.851del (p.Pro284fs)
NM_001018113.3(FANCB):c.852T>C (p.Pro284=)
NM_001018113.3(FANCB):c.864A>G (p.Gln288=)
NM_001018113.3(FANCB):c.876A>G (p.Ser292=)
NM_001018113.3(FANCB):c.885A>G (p.Gly295=) rs1477082234
NM_001018113.3(FANCB):c.898G>A (p.Val300Ile)
NM_001018113.3(FANCB):c.906C>T (p.Ser302=)
NM_001018113.3(FANCB):c.93T>C (p.Asn31=)
NM_001018113.3(FANCB):c.949C>T (p.Gln317Ter) rs1602005062
NM_001018113.3(FANCB):c.951+13T>C
NM_001018113.3(FANCB):c.951+19T>C
NM_001018113.3(FANCB):c.951+7C>T
NM_001018113.3(FANCB):c.951G>T (p.Gln317His)
NM_001018113.3(FANCB):c.952-13C>T rs1057515807
NM_001018113.3(FANCB):c.952-14T>C
NM_001018113.3(FANCB):c.952-16G>A
NM_001018113.3(FANCB):c.952-19A>G
NM_001018113.3(FANCB):c.970A>C (p.Lys324Gln)
NM_001018113.3(FANCB):c.972A>T (p.Lys324Asn) rs1456143136
NM_001018113.3(FANCB):c.972del (p.Lys324fs)
NM_001018113.3(FANCB):c.977G>C (p.Ser326Thr)
NM_001018113.3(FANCB):c.986T>C (p.Leu329Pro) rs1161918267
NM_001018113.3(FANCB):c.987G>C (p.Leu329=)
NM_001018113.3(FANCB):c.990A>T (p.Ile330=) rs2147429139
NM_152633.4(FANCB):c.-70-3463_951dup

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