ClinVar Miner

List of variants in gene FANCB reported as uncertain significance for Fanconi anemia

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP
NC_000023.11:g.(?_14843557)_(14873062_?)dup
NC_000023.11:g.14864560_14869043dup
NM_001018113.3(FANCB):c.*151A>G
NM_001018113.3(FANCB):c.-111A>G
NM_001018113.3(FANCB):c.-219G>T
NM_001018113.3(FANCB):c.-230A>T rs1020271259
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.3(FANCB):c.1104+4A>G rs1555906676
NM_001018113.3(FANCB):c.1133A>C (p.Asp378Ala) rs1569088991
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) rs1057515805
NM_001018113.3(FANCB):c.1288G>A (p.Val430Ile) rs1018343095
NM_001018113.3(FANCB):c.131A>C (p.His44Pro)
NM_001018113.3(FANCB):c.1325A>C (p.Glu442Ala)
NM_001018113.3(FANCB):c.1342C>T (p.Pro448Ser) rs867778700
NM_001018113.3(FANCB):c.1372C>T (p.His458Tyr) rs1601985554
NM_001018113.3(FANCB):c.1487C>T (p.Ser496Phe) rs993307430
NM_001018113.3(FANCB):c.1541A>G (p.His514Arg) rs1555904475
NM_001018113.3(FANCB):c.1605C>G (p.Phe535Leu) rs1555904458
NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser)
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys)
NM_001018113.3(FANCB):c.1655T>C (p.Val552Ala) rs1569083698
NM_001018113.3(FANCB):c.1664C>T (p.Thr555Ile)
NM_001018113.3(FANCB):c.1702C>T (p.His568Tyr)
NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp)
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151
NM_001018113.3(FANCB):c.1785C>G (p.Cys595Trp)
NM_001018113.3(FANCB):c.183C>T (p.Ser61=)
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=)
NM_001018113.3(FANCB):c.1957G>A (p.Ala653Thr)
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)
NM_001018113.3(FANCB):c.1972T>A (p.Ser658Thr)
NM_001018113.3(FANCB):c.1991C>T (p.Ser664Leu) rs1555904350
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) rs761346761
NM_001018113.3(FANCB):c.2019G>C (p.Lys673Asn)
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.2098T>C (p.Phe700Leu) rs1232355920
NM_001018113.3(FANCB):c.2107A>T (p.Thr703Ser)
NM_001018113.3(FANCB):c.2117C>T (p.Thr706Ile) rs1278850689
NM_001018113.3(FANCB):c.2125C>G (p.Gln709Glu) rs1060501875
NM_001018113.3(FANCB):c.2154A>G (p.Ile718Met)
NM_001018113.3(FANCB):c.2168A>G (p.Asn723Ser) rs1300715683
NM_001018113.3(FANCB):c.2267T>C (p.Ile756Thr) rs756392097
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) rs761492600
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=)
NM_001018113.3(FANCB):c.2420A>C (p.Glu807Ala) rs1020168794
NM_001018113.3(FANCB):c.256A>G (p.Arg86Gly)
NM_001018113.3(FANCB):c.30C>G (p.Asn10Lys)
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.458T>A (p.Ile153Asn)
NM_001018113.3(FANCB):c.477A>C (p.Lys159Asn) rs1569092592
NM_001018113.3(FANCB):c.508A>G (p.Ile170Val)
NM_001018113.3(FANCB):c.587G>A (p.Cys196Tyr) rs1366041068
NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln) rs747819351
NM_001018113.3(FANCB):c.688C>T (p.Pro230Ser)
NM_001018113.3(FANCB):c.716A>T (p.Tyr239Phe) rs1555907444
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) rs1057515809
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser)
NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg) rs150435015
NM_001018113.3(FANCB):c.898G>T (p.Val300Phe) rs757610875
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) rs1057515808
NM_001018113.3(FANCB):c.923C>T (p.Ala308Val) rs1242186487
NM_001018113.3(FANCB):c.952-13C>T rs1057515807

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