ClinVar Miner

List of variants studied for Fanconi anemia complementation group b

Included ClinVar conditions (2):
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Total variants: 69
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HGVS dbSNP
FANCB, 1-BP DEL, 1650T
FANCB, 1-BP INS, 1838T
FANCB, 1-BP INS, 811T
FANCB, 3314-BP DEL
NC_000023.11:g.14843408_14873063del
NC_000023.11:g.14864560_14869043dup
NM_001018113.3(FANCB):c.*14T>C rs2375726
NM_001018113.3(FANCB):c.*151A>G
NM_001018113.3(FANCB):c.*33T>C rs187611308
NM_001018113.3(FANCB):c.*66T>G rs143434225
NM_001018113.3(FANCB):c.-111A>G
NM_001018113.3(FANCB):c.-173G>C rs2188383
NM_001018113.3(FANCB):c.-219G>T
NM_001018113.3(FANCB):c.-229T>G rs149617434
NM_001018113.3(FANCB):c.-230A>T rs1020271259
NM_001018113.3(FANCB):c.-232G>A rs756766337
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679
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.1140T>A (p.Phe380Leu) rs199909156
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) rs1057515805
NM_001018113.3(FANCB):c.128T>C (p.Leu43Ser) rs1602006737
NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met) rs772802668
NM_001018113.3(FANCB):c.1327-10T>C rs2905223
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His) rs140198444
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538
NM_001018113.3(FANCB):c.1496+5G>A rs1569085810
NM_001018113.3(FANCB):c.1497_2580del (p.Ser500fs)
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys)
NM_001018113.3(FANCB):c.1668del (p.Asp557fs) rs1569083679
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018113.3(FANCB):c.1807_1808GA[2] (p.Arg604fs) rs1601977912
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) rs148560784
NM_001018113.3(FANCB):c.183C>T (p.Ser61=)
NM_001018113.3(FANCB):c.1855_1856AG[1] (p.Arg619fs) rs1569083464
NM_001018113.3(FANCB):c.1856_1857insT (p.Arg619fs) rs1601977844
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=)
NM_001018113.3(FANCB):c.195dup (p.Thr66fs) rs1602006627
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala) rs184796918
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) rs761346761
NM_001018113.3(FANCB):c.2027T>C (p.Leu676Pro) rs1601977531
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.2249_2252del (p.Gly750fs) rs1601976527
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly) rs750381270
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) rs761492600
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) rs140363445
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=)
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly) rs148257882
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) rs201436396
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) rs970828551
NM_001018113.3(FANCB):c.362G>A (p.Arg121His)
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208
NM_001018113.3(FANCB):c.69T>C (p.Leu23=) rs151173533
NM_001018113.3(FANCB):c.755_767del (p.Leu252fs) rs1602005463
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) rs1057515809
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser)
NM_001018113.3(FANCB):c.829dup (p.Cys277fs) rs1602005335
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) rs1057515808
NM_001018113.3(FANCB):c.949C>T (p.Gln317Ter) rs1602005062
NM_001018113.3(FANCB):c.952-13C>T rs1057515807
NM_001018113.3(FANCB):c.986T>C (p.Leu329Pro) rs1161918267

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