ClinVar Miner

List of variants in gene FBP1 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
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Total variants: 93
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HGVS dbSNP
GRCh37/hg19 9q22.32(chr9:97401423-97401593)
NC_000009.12:g.(?_94639121)_(94639330_?)del
NC_000009.12:g.94620329_94620491del163 rs1563984164
NM_000507.4(FBP1):c.*121T>G
NM_000507.4(FBP1):c.*127C>T
NM_000507.4(FBP1):c.*152C>T
NM_000507.4(FBP1):c.*21C>T rs9695
NM_000507.4(FBP1):c.*248del rs11351544
NM_000507.4(FBP1):c.-130C>A
NM_000507.4(FBP1):c.-154C>G rs28382860
NM_000507.4(FBP1):c.-18G>T
NM_000507.4(FBP1):c.-194C>T rs2296707
NM_000507.4(FBP1):c.-208C>G rs759920853
NM_000507.4(FBP1):c.-54C>A rs1057515690
NM_000507.4(FBP1):c.-59A>T rs913996916
NM_000507.4(FBP1):c.102G>C (p.Leu34=) rs143832764
NM_000507.4(FBP1):c.114_119dup (p.Cys39_Thr40dup) rs1554682769
NM_000507.4(FBP1):c.14C>A (p.Ala5Glu) rs759615686
NM_000507.4(FBP1):c.169C>T (p.Leu57Phe)
NM_000507.4(FBP1):c.1_170del (p.Met1fs) rs1563991556
NM_000507.4(FBP1):c.237C>T (p.Asn79=) rs201591116
NM_000507.4(FBP1):c.271G>T (p.Ala91Ser) rs41316538
NM_000507.4(FBP1):c.275C>T (p.Thr92Met) rs141270413
NM_000507.4(FBP1):c.276G>T (p.Thr92=) rs16910744
NM_000507.4(FBP1):c.306C>T (p.His102=) rs776366063
NM_000507.4(FBP1):c.334-15T>C rs370920869
NM_000507.4(FBP1):c.349T>C (p.Cys117Arg) rs1563983269
NM_000507.4(FBP1):c.355G>A (p.Asp119Asn) rs758609113
NM_000507.4(FBP1):c.397G>A (p.Val133Ile)
NM_000507.4(FBP1):c.426+1G>T rs1563983184
NM_000507.4(FBP1):c.426+7C>T rs8192689
NM_000507.4(FBP1):c.443C>A (p.Pro148His)
NM_000507.4(FBP1):c.451A>C (p.Lys151Gln)
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp) rs766005419
NM_000507.4(FBP1):c.477C>G (p.Asn159Lys)
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser) rs121918188
NM_000507.4(FBP1):c.495C>T (p.Tyr165=)
NM_000507.4(FBP1):c.498A>C (p.Ala166=)
NM_000507.4(FBP1):c.530C>A (p.Ala177Asp) rs121918189
NM_000507.4(FBP1):c.541G>A (p.Gly181Arg) rs1372801499
NM_000507.4(FBP1):c.544del (p.Val182fs)
NM_000507.4(FBP1):c.577G>T (p.Glu193Ter)
NM_000507.4(FBP1):c.581T>C (p.Phe194Ser) rs121918191
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) rs761470205
NM_000507.4(FBP1):c.619G>C (p.Gly207Arg)
NM_000507.4(FBP1):c.639C>T (p.Asn213=)
NM_000507.4(FBP1):c.649G>A (p.Ala217Thr)
NM_000507.4(FBP1):c.651C>T (p.Ala217=) rs1042144
NM_000507.4(FBP1):c.653G>A (p.Arg218Lys) rs1769259
NM_000507.4(FBP1):c.663C>T (p.Asp221=)
NM_000507.4(FBP1):c.668C>A (p.Ala223Asp)
NM_000507.4(FBP1):c.670G>A (p.Val224Ile) rs140222720
NM_000507.4(FBP1):c.697T>A (p.Phe233Ile) rs2297085
NM_000507.4(FBP1):c.697T>C (p.Phe233Leu) rs2297085
NM_000507.4(FBP1):c.704del (p.Pro235fs) rs774362519
NM_000507.4(FBP1):c.705+14C>T rs2297084
NM_000507.4(FBP1):c.705A>G (p.Pro235=) rs112446147
NM_000507.4(FBP1):c.720_729del (p.Tyr241fs) rs1060499726
NM_000507.4(FBP1):c.721T>C (p.Tyr241His)
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp) rs200679026
NM_000507.4(FBP1):c.731G>A (p.Arg244Gln) rs775808681
NM_000507.4(FBP1):c.745A>C (p.Met249Leu)
NM_000507.4(FBP1):c.764G>T (p.Arg255Leu)
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192
NM_000507.4(FBP1):c.779del (p.Gly260fs) rs1554679825
NM_000507.4(FBP1):c.799G>A (p.Ala267Thr)
NM_000507.4(FBP1):c.825+1G>A rs111437558
NM_000507.4(FBP1):c.826-15G>A rs148942437
NM_000507.4(FBP1):c.826-15G>T rs148942437
NM_000507.4(FBP1):c.826-7T>C
NM_000507.4(FBP1):c.826-9G>C rs200948424
NM_000507.4(FBP1):c.835C>T (p.Leu279=)
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000507.4(FBP1):c.841G>T (p.Glu281Ter) rs566453434
NM_000507.4(FBP1):c.851C>G (p.Pro284Arg) rs121918192
NM_000507.4(FBP1):c.865A>T (p.Met289Leu) rs145771944
NM_000507.4(FBP1):c.889A>G (p.Thr297Ala) rs758841300
NM_000507.4(FBP1):c.88G>T (p.Glu30Ter) rs121918190
NM_000507.4(FBP1):c.906C>T (p.Ala302=) rs28369776
NM_000507.4(FBP1):c.915C>T (p.Asp305=) rs762285012
NM_000507.4(FBP1):c.916G>A (p.Val306Ile) rs865779742
NM_000507.4(FBP1):c.960A>G (p.Gly320=) rs1769257
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154
NM_000507.4(FBP1):c.966del (p.Asp323fs) rs747269745
NM_000507.4(FBP1):c.970G>A (p.Asp324Asn) rs201508880
NM_000507.4(FBP1):c.971A>G (p.Asp324Gly)
NM_000507.4(FBP1):c.977T>C (p.Leu326Pro) rs759227114
NM_000507.4(FBP1):c.997G>A (p.Glu333Lys)
NM_001127628.1(FBP1):c.-24-321C>G rs28382859
NM_001127628.2(FBP1):c.-24-191G>C rs987543611
NM_001127628.2(FBP1):c.-24-195C>T rs1057515693
NM_001127628.2(FBP1):c.-24-214G>A rs974736435
NM_001127628.2(FBP1):c.-24-222G>T rs921192380

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