ClinVar Miner

List of variants in gene FANCB reported as uncertain significance for congenital limb malformation

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 251
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HGVS dbSNP gnomAD frequency
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151 0.00019
NM_001018113.3(FANCB):c.*151A>G rs1480015600 0.00011
NM_001018113.3(FANCB):c.-111A>G rs185118376 0.00009
NM_001018113.3(FANCB):c.-230A>T rs1020271259 0.00008
NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg) rs150435015 0.00008
NM_001018113.3(FANCB):c.2146A>T (p.Ile716Phe) rs373141774 0.00005
NM_001018113.3(FANCB):c.2267T>C (p.Ile756Thr) rs756392097 0.00005
NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly) rs866138487 0.00004
NM_001018113.3(FANCB):c.1267T>C (p.Tyr423His) rs776805534 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.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.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.2327C>T (p.Ala776Val) rs761492600 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.1105A>G (p.Ser369Gly) rs1422244944 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.1160G>A (p.Arg387His) rs757202355 0.00001
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=) rs764156696 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.1318G>A (p.Ala440Thr) rs1313938907 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.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.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.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.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.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.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.652G>C (p.Glu218Gln) rs747819351 0.00001
NM_001018113.3(FANCB):c.662A>G (p.Glu221Gly) rs1265222877 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.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.959C>A (p.Ala320Asp) rs1246382467 0.00001
NC_000023.10:g.(?_14861689)_(14877476_?)dup
NC_000023.11:g.(?_14843557)_(14873062_?)dup
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.1064C>T (p.Thr355Ile)
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.3(FANCB):c.1104+4A>G rs1555906676
NM_001018113.3(FANCB):c.1104G>A (p.Ser368=)
NM_001018113.3(FANCB):c.1105-4T>C rs2147425181
NM_001018113.3(FANCB):c.1107T>G (p.Ser369Arg)
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.1177C>T (p.Pro393Ser)
NM_001018113.3(FANCB):c.118A>G (p.Thr40Ala)
NM_001018113.3(FANCB):c.1192C>A (p.Leu398Met)
NM_001018113.3(FANCB):c.1198-3C>T
NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp) rs1364046604
NM_001018113.3(FANCB):c.1243A>G (p.Lys415Glu)
NM_001018113.3(FANCB):c.124A>G (p.Ile42Val) rs2147447859
NM_001018113.3(FANCB):c.1256T>C (p.Ile419Thr)
NM_001018113.3(FANCB):c.1288G>A (p.Val430Ile) rs1018343095
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.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.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.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.1497G>T (p.Leu499=)
NM_001018113.3(FANCB):c.1501C>G (p.Leu501Val) rs2147391420
NM_001018113.3(FANCB):c.1514C>G (p.Thr505Ser)
NM_001018113.3(FANCB):c.153C>G (p.Asp51Glu)
NM_001018113.3(FANCB):c.1541A>G (p.His514Arg) rs1555904475
NM_001018113.3(FANCB):c.1579G>A (p.Val527Met)
NM_001018113.3(FANCB):c.1586A>C (p.Lys529Thr)
NM_001018113.3(FANCB):c.1605C>G (p.Phe535Leu) rs1555904458
NM_001018113.3(FANCB):c.1613C>G (p.Pro538Arg) rs2147391147
NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His) rs2147391126
NM_001018113.3(FANCB):c.1624C>T (p.Pro542Ser) rs868761818
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.1694T>C (p.Val565Ala)
NM_001018113.3(FANCB):c.16G>A (p.Ala6Thr) rs5935815
NM_001018113.3(FANCB):c.1703A>C (p.His568Pro) rs2092370560
NM_001018113.3(FANCB):c.1708T>C (p.Ser570Pro)
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.1787C>A (p.Thr596Asn)
NM_001018113.3(FANCB):c.1800A>G (p.Gln600=) rs2147390430
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.1858G>A (p.Val620Ile) rs2092369531
NM_001018113.3(FANCB):c.1865T>C (p.Leu622Ser)
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=) rs2092368698
NM_001018113.3(FANCB):c.1930C>T (p.His644Tyr)
NM_001018113.3(FANCB):c.1940A>T (p.Asp647Val)
NM_001018113.3(FANCB):c.1991C>T (p.Ser664Leu) rs1555904350
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.2093G>C (p.Gly698Ala)
NM_001018113.3(FANCB):c.2107A>T (p.Thr703Ser) rs2092367669
NM_001018113.3(FANCB):c.2125C>G (p.Gln709Glu) rs1060501875
NM_001018113.3(FANCB):c.2139C>A (p.Phe713Leu)
NM_001018113.3(FANCB):c.2140G>A (p.Glu714Lys) rs868748586
NM_001018113.3(FANCB):c.2154A>G (p.Ile718Met) rs2092367373
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.2168A>G (p.Asn723Ser) rs1300715683
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.2219T>C (p.Ile740Thr)
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.2275A>G (p.Met759Val)
NM_001018113.3(FANCB):c.2291A>C (p.Glu764Ala)
NM_001018113.3(FANCB):c.229A>G (p.Met77Val)
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.2353A>G (p.Met785Val)
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.23C>T (p.Ser8Leu)
NM_001018113.3(FANCB):c.2428C>T (p.His810Tyr) rs2147386628
NM_001018113.3(FANCB):c.2439A>C (p.Arg813Ser) rs748392793
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.2507G>A (p.Arg836Lys)
NM_001018113.3(FANCB):c.2515A>G (p.Thr839Ala)
NM_001018113.3(FANCB):c.2553T>A (p.Phe851Leu) rs759020755
NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer) rs2147386189
NM_001018113.3(FANCB):c.271C>T (p.Leu91Phe)
NM_001018113.3(FANCB):c.292A>G (p.Lys98Glu) rs2092464184
NM_001018113.3(FANCB):c.299A>G (p.Lys100Arg)
NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys) rs2147447239
NM_001018113.3(FANCB):c.30C>G (p.Asn10Lys) rs750078094
NM_001018113.3(FANCB):c.331A>G (p.Ile111Val)
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.388A>T (p.Met130Leu)
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.454T>C (p.Phe152Leu) rs2092463362
NM_001018113.3(FANCB):c.461C>A (p.Ser154Tyr)
NM_001018113.3(FANCB):c.463T>C (p.Ser155Pro)
NM_001018113.3(FANCB):c.469A>G (p.Thr157Ala)
NM_001018113.3(FANCB):c.477A>C (p.Lys159Asn) rs1569092592
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.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.569G>A (p.Cys190Tyr) rs2147446437
NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro) rs2092462570
NM_001018113.3(FANCB):c.610G>T (p.Asp204Tyr)
NM_001018113.3(FANCB):c.611A>C (p.Asp204Ala)
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.716A>T (p.Tyr239Phe) rs1555907444
NM_001018113.3(FANCB):c.722A>G (p.His241Arg) rs2147445804
NM_001018113.3(FANCB):c.773C>T (p.Ala258Val)
NM_001018113.3(FANCB):c.77A>G (p.Gln26Arg)
NM_001018113.3(FANCB):c.781C>G (p.Arg261Gly)
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) rs1057515809
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser) rs2092461325
NM_001018113.3(FANCB):c.834G>C (p.Gln278His) rs1569092087
NM_001018113.3(FANCB):c.83C>G (p.Ser28Cys)
NM_001018113.3(FANCB):c.951G>T (p.Gln317His)
NM_001018113.3(FANCB):c.952-13C>T rs1057515807
NM_001018113.3(FANCB):c.972A>T (p.Lys324Asn) rs1456143136
NM_001018113.3(FANCB):c.977G>C (p.Ser326Thr)
NM_152633.4(FANCB):c.-70-3463_951dup

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