ClinVar Miner

List of variants studied for Fanconi anemia complementation group B

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 156
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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 0.05461
NM_001018113.3(FANCB):c.*14T>C rs2375726 0.02286
NM_001018113.3(FANCB):c.-229T>G rs149617434 0.00790
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 0.00112
NM_001018113.3(FANCB):c.*33T>C rs187611308 0.00068
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.1067C>T (p.Ser356Leu) rs142304943 0.00046
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218 0.00036
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro) rs143976596 0.00035
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) rs201436396 0.00032
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930 0.00031
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=) rs192743430 0.00025
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) rs199909156 0.00020
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151 0.00017
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly) rs148257882 0.00014
NM_001018113.3(FANCB):c.*151A>G rs1480015600 0.00010
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.-111A>G rs185118376 0.00009
NM_001018113.3(FANCB):c.-219G>T rs373175926 0.00009
NM_001018113.3(FANCB):c.-232G>A rs756766337 0.00009
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) rs148560784 0.00009
NM_001018113.3(FANCB):c.-230A>T rs1020271259 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.2165+10A>T rs184385334 0.00006
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_001018113.3(FANCB):c.493G>C (p.Gly165Arg) rs146131050 0.00004
NM_001018113.3(FANCB):c.1103C>T (p.Ser368Leu) rs143585647 0.00003
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala) rs184796918 0.00003
NM_001018113.3(FANCB):c.76C>G (p.Gln26Glu) rs1316961996 0.00003
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.2195A>G (p.His732Arg) rs768405501 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.458T>A (p.Ile153Asn) rs749099779 0.00002
NM_001018113.3(FANCB):c.688C>T (p.Pro230Ser) rs200970121 0.00002
NM_001018113.3(FANCB):c.83C>G (p.Ser28Cys) rs2092465297 0.00002
NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly) rs866138487 0.00001
NM_001018113.3(FANCB):c.113C>T (p.Thr38Ile) rs2092465105 0.00001
NM_001018113.3(FANCB):c.1177C>T (p.Pro393Ser) rs753812355 0.00001
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=) rs764156696 0.00001
NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp) rs1364046604 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.1327-1G>A rs1295003944 0.00001
NM_001018113.3(FANCB):c.1670A>T (p.Asp557Val) rs1336185048 0.00001
NM_001018113.3(FANCB):c.183C>T (p.Ser61=) rs1317100453 0.00001
NM_001018113.3(FANCB):c.2053A>G (p.Ile685Val) rs764091042 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.2373C>T (p.Ser791=) rs2092363086 0.00001
NM_001018113.3(FANCB):c.2438G>T (p.Arg813Ile) rs995483698 0.00001
NM_001018113.3(FANCB):c.52T>C (p.Tyr18His) rs996732250 0.00001
NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu) rs374217132 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
FANCB, 3314-BP DEL
NM_001018113.1(FANCB):c.(?_-268)_(*160_?)del
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.3(FANCB):c.1103C>A (p.Ser368Ter) rs143585647
NM_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001018113.3(FANCB):c.1105-26TATT[7] rs398123537
NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly) rs2147425036
NM_001018113.3(FANCB):c.1150C>G (p.Gln384Glu)
NM_001018113.3(FANCB):c.118A>G (p.Thr40Ala) rs2519013673
NM_001018113.3(FANCB):c.1217G>A (p.Arg406Gln)
NM_001018113.3(FANCB):c.128T>C (p.Leu43Ser) rs1602006737
NM_001018113.3(FANCB):c.1292A>G (p.Gln431Arg)
NM_001018113.3(FANCB):c.1304A>G (p.Asp435Gly) rs2518976411
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg) rs776802337
NM_001018113.3(FANCB):c.1327-3del rs202067682
NM_001018113.3(FANCB):c.1458C>G (p.Ser486Arg) rs2092396657
NM_001018113.3(FANCB):c.1487C>G (p.Ser496Cys) rs993307430
NM_001018113.3(FANCB):c.1496+5G>A rs1569085810
NM_001018113.3(FANCB):c.1497_2580del (p.Ser500fs)
NM_001018113.3(FANCB):c.1570C>T (p.Gln524Ter) rs370248837
NM_001018113.3(FANCB):c.1597A>G (p.Asn533Asp)
NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser) rs773313492
NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His) rs2147391126
NM_001018113.3(FANCB):c.1623G>A (p.Met541Ile)
NM_001018113.3(FANCB):c.1624C>T (p.Pro542Ser) rs868761818
NM_001018113.3(FANCB):c.1640T>C (p.Leu547Ser)
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys) rs2092370985
NM_001018113.3(FANCB):c.1668del (p.Asp557fs) rs1569083679
NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp) rs773221142
NM_001018113.3(FANCB):c.1724T>A (p.Val575Glu)
NM_001018113.3(FANCB):c.1767A>G (p.Thr589=) rs964099207
NM_001018113.3(FANCB):c.1811_1814del (p.Arg604fs) rs1601977912
NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro) rs144764663
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.1867A>C (p.Ser623Arg)
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=) rs2092368698
NM_001018113.3(FANCB):c.195dup (p.Thr66fs) rs1602006627
NM_001018113.3(FANCB):c.1991C>T (p.Ser664Leu) rs1555904350
NM_001018113.3(FANCB):c.2027T>C (p.Leu676Pro) rs1601977531
NM_001018113.3(FANCB):c.2050A>G (p.Ile684Val)
NM_001018113.3(FANCB):c.2059G>T (p.Glu687Ter) rs1601977510
NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter) rs1569083185
NM_001018113.3(FANCB):c.2165+1G>T rs1601977379
NM_001018113.3(FANCB):c.2172_2175del (p.Thr725fs) rs1601976655
NM_001018113.3(FANCB):c.2174C>A (p.Thr725Lys)
NM_001018113.3(FANCB):c.2176G>A (p.Val726Ile)
NM_001018113.3(FANCB):c.218A>G (p.His73Arg)
NM_001018113.3(FANCB):c.2224T>C (p.Cys742Arg) rs2092364017
NM_001018113.3(FANCB):c.2245T>A (p.Ser749Thr)
NM_001018113.3(FANCB):c.2248G>A (p.Gly750Arg)
NM_001018113.3(FANCB):c.2249_2252del (p.Gly750fs) rs1601976527
NM_001018113.3(FANCB):c.2267T>A (p.Ile756Asn)
NM_001018113.3(FANCB):c.2273A>G (p.Asn758Ser)
NM_001018113.3(FANCB):c.2281T>G (p.Phe761Val)
NM_001018113.3(FANCB):c.2329A>C (p.Ile777Leu)
NM_001018113.3(FANCB):c.2339A>G (p.His780Arg)
NM_001018113.3(FANCB):c.2354T>C (p.Met785Thr)
NM_001018113.3(FANCB):c.2373C>G (p.Ser791Arg) rs2092363086
NM_001018113.3(FANCB):c.2454A>T (p.Arg818Ser)
NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer) rs2147386189
NM_001018113.3(FANCB):c.271C>T (p.Leu91Phe) rs752308987
NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys) rs2147447239
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) rs970828551
NM_001018113.3(FANCB):c.41G>A (p.Arg14Lys) rs753239814
NM_001018113.3(FANCB):c.422T>C (p.Leu141Ser)
NM_001018113.3(FANCB):c.494G>A (p.Gly165Asp) rs2519011430
NM_001018113.3(FANCB):c.508A>C (p.Ile170Leu)
NM_001018113.3(FANCB):c.552G>T (p.Leu184Phe)
NM_001018113.3(FANCB):c.592C>G (p.Gln198Glu)
NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro) rs2092462570
NM_001018113.3(FANCB):c.595G>A (p.Glu199Lys)
NM_001018113.3(FANCB):c.625A>G (p.Asn209Asp)
NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln) rs747819351
NM_001018113.3(FANCB):c.706G>A (p.Val236Met) rs746389250
NM_001018113.3(FANCB):c.755_767del (p.Leu252fs) rs1602005463
NM_001018113.3(FANCB):c.77A>G (p.Gln26Arg) rs2519014063
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.809A>G (p.Asn270Ser) rs2092461325
NM_001018113.3(FANCB):c.829dup (p.Cys277fs) rs1602005335
NM_001018113.3(FANCB):c.949C>T (p.Gln317Ter) rs1602005062
NM_001018113.3(FANCB):c.952-13C>T rs1057515807
NM_001018113.3(FANCB):c.972del (p.Lys324fs) rs2518993205
NM_001018113.3(FANCB):c.974T>C (p.Leu325Pro)
NM_001018113.3(FANCB):c.986T>A (p.Leu329Gln)
NM_001018113.3(FANCB):c.986T>C (p.Leu329Pro) rs1161918267
NM_152633.4(FANCB):c.-70-3463_951dup

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