ClinVar Miner

List of variants in gene FBP1 studied for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 274
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HGVS dbSNP gnomAD frequency
NM_000507.4(FBP1):c.653G>A (p.Arg218Lys) rs1769259 0.95944
NM_000507.4(FBP1):c.960A>G (p.Gly320=) rs1769257 0.88821
NM_000507.4(FBP1):c.*21C>T rs9695 0.51483
NM_000507.4(FBP1):c.705+14C>T rs2297084 0.51109
NM_000507.4(FBP1):c.567+31G>A rs3739747 0.41075
NM_000507.4(FBP1):c.426+7C>T rs8192689 0.31642
NM_000507.4(FBP1):c.651C>T (p.Ala217=) rs1042144 0.30883
NM_000507.4(FBP1):c.-194C>T rs2296707 0.10821
NM_000507.4(FBP1):c.276G>T (p.Thr92=) rs16910744 0.04339
NM_000507.4(FBP1):c.*121T>G rs2274689 0.01225
NM_000507.4(FBP1):c.-154C>G rs28382860 0.00743
NM_000507.4(FBP1):c.237C>T (p.Asn79=) rs201591116 0.00398
NM_000507.4(FBP1):c.865A>T (p.Met289Leu) rs145771944 0.00369
NM_000507.3(FBP1):c.-238G>A rs974736435 0.00098
NM_000507.4(FBP1):c.345G>A (p.Val115=) rs61753273 0.00078
NM_000507.4(FBP1):c.745A>C (p.Met249Leu) rs147392679 0.00065
NM_000507.4(FBP1):c.334-15T>C rs370920869 0.00063
NM_000507.4(FBP1):c.275C>T (p.Thr92Met) rs141270413 0.00052
NM_001127628.2(FBP1):c.-24-321C>G rs28382859 0.00041
NM_000507.4(FBP1):c.670G>A (p.Val224Ile) rs140222720 0.00040
NM_000507.4(FBP1):c.102G>C (p.Leu34=) rs143832764 0.00029
NM_000507.4(FBP1):c.495C>T (p.Tyr165=) rs139264724 0.00029
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp) rs200679026 0.00028
NM_000507.4(FBP1):c.906C>T (p.Ala302=) rs28369776 0.00026
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154 0.00022
NM_000507.4(FBP1):c.141G>C (p.Ser47=) rs148976582 0.00020
NM_000507.4(FBP1):c.818A>G (p.Asn273Ser) rs143965326 0.00019
NM_000507.4(FBP1):c.334-17C>A rs375155560 0.00013
NM_000507.4(FBP1):c.619G>C (p.Gly207Arg) rs766175621 0.00012
NM_000507.4(FBP1):c.*152C>T rs190431674 0.00011
NM_000507.4(FBP1):c.-130C>A rs1003899519 0.00011
NM_000507.4(FBP1):c.-59A>T rs913996916 0.00010
NM_000507.4(FBP1):c.14C>A (p.Ala5Glu) rs759615686 0.00010
NM_000507.4(FBP1):c.664C>T (p.Pro222Ser) rs1373961798 0.00009
NM_000507.4(FBP1):c.826-9G>C rs200948424 0.00008
NM_000507.4(FBP1):c.195C>T (p.Asn65=) rs146859261 0.00006
NM_000507.4(FBP1):c.798C>T (p.Pro266=) rs142811660 0.00006
NM_000507.4(FBP1):c.915C>T (p.Asp305=) rs762285012 0.00006
NM_000507.3(FBP1):c.-246G>T rs921192380 0.00004
NM_000507.4(FBP1):c.477C>G (p.Asn159Lys) rs199531187 0.00004
NM_000507.4(FBP1):c.567G>A (p.Pro189=) rs376631329 0.00004
NM_000507.4(FBP1):c.606G>A (p.Lys202=) rs111596938 0.00004
NM_000507.4(FBP1):c.764G>T (p.Arg255Leu) rs28369761 0.00004
NM_000507.4(FBP1):c.799G>A (p.Ala267Thr) rs576352790 0.00004
NM_000507.3(FBP1):c.-215G>C rs987543611 0.00003
NM_000507.4(FBP1):c.-18G>T rs1006994685 0.00003
NM_000507.4(FBP1):c.306C>T (p.His102=) rs776366063 0.00003
NM_000507.4(FBP1):c.541G>A (p.Gly181Arg) rs1372801499 0.00003
NM_000507.4(FBP1):c.649G>A (p.Ala217Thr) rs569127795 0.00003
NM_000507.3(FBP1):c.-219C>T rs1057515693 0.00002
NM_000507.4(FBP1):c.355G>A (p.Asp119Asn) rs758609113 0.00002
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp) rs766005419 0.00002
NM_000507.4(FBP1):c.721T>C (p.Tyr241His) rs757338386 0.00002
NM_000507.4(FBP1):c.825+14C>G rs772828820 0.00002
NM_000507.4(FBP1):c.840C>T (p.Tyr280=) rs377759037 0.00002
NM_000507.4(FBP1):c.324G>A (p.Pro108=) rs745724824 0.00001
NM_000507.4(FBP1):c.397G>A (p.Val133Ile) rs368583779 0.00001
NM_000507.4(FBP1):c.443C>A (p.Pro148His) rs753167849 0.00001
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser) rs121918188 0.00001
NM_000507.4(FBP1):c.639C>T (p.Asn213=) rs762007074 0.00001
NM_000507.4(FBP1):c.668C>A (p.Ala223Asp) rs369420846 0.00001
NM_000507.4(FBP1):c.705A>G (p.Pro235=) rs112446147 0.00001
NM_000507.4(FBP1):c.731G>A (p.Arg244Gln) rs775808681 0.00001
NM_000507.4(FBP1):c.777C>T (p.Tyr259=) rs1435646320 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NM_000507.4(FBP1):c.889A>G (p.Thr297Ala) rs758841300 0.00001
NM_000507.4(FBP1):c.916G>A (p.Val306Ile) rs865779742 0.00001
NM_000507.4(FBP1):c.970G>A (p.Asp324Asn) rs201508880 0.00001
NM_000507.4(FBP1):c.977T>C (p.Leu326Pro) rs759227114 0.00001
NM_000507.4(FBP1):c.978C>T (p.Leu326=) rs774118438 0.00001
NM_000507.4(FBP1):c.997G>A (p.Glu333Lys) rs1564191912 0.00001
GRCh37/hg19 9q22.32(chr9:97401423-97401592)
GRCh37/hg19 9q22.32(chr9:97401423-97401593)
NC_000009.11:g.(?_97365663)_(97372363_?)dup
NC_000009.11:g.(?_97365663)_(97401592_?)dup
NC_000009.12:g.(?_94639121)_(94639330_?)del
NC_000009.12:g.94620330_94620492del rs1563984164
NM_000507.4(FBP1):c.*127C>T rs1827636938
NM_000507.4(FBP1):c.*248del rs11351544
NM_000507.4(FBP1):c.-208C>G rs759920853
NM_000507.4(FBP1):c.-54C>A rs1057515690
NM_000507.4(FBP1):c.1008T>C (p.Ser336=)
NM_000507.4(FBP1):c.1012del (p.Gln338fs)
NM_000507.4(FBP1):c.114_119dup (p.Cys39_Thr40dup) rs1554682769
NM_000507.4(FBP1):c.120A>G (p.Thr40=)
NM_000507.4(FBP1):c.127A>T (p.Lys43Ter) rs2131509216
NM_000507.4(FBP1):c.131_132del (p.Ala44fs)
NM_000507.4(FBP1):c.138T>C (p.Ser46=)
NM_000507.4(FBP1):c.144G>A (p.Ala48=)
NM_000507.4(FBP1):c.144G>T (p.Ala48=)
NM_000507.4(FBP1):c.156G>C (p.Ala52=)
NM_000507.4(FBP1):c.168C>T (p.His56=)
NM_000507.4(FBP1):c.169C>T (p.Leu57Phe) rs1427047737
NM_000507.4(FBP1):c.170+18C>T
NM_000507.4(FBP1):c.170+19G>T
NM_000507.4(FBP1):c.170+4A>G
NM_000507.4(FBP1):c.170+4del rs2131509125
NM_000507.4(FBP1):c.170+7C>T
NM_000507.4(FBP1):c.170+9G>A
NM_000507.4(FBP1):c.171-11G>A
NM_000507.4(FBP1):c.171-11G>T
NM_000507.4(FBP1):c.171-17G>T
NM_000507.4(FBP1):c.171-20G>A
NM_000507.4(FBP1):c.171-4G>A
NM_000507.4(FBP1):c.171-6C>T rs930280429
NM_000507.4(FBP1):c.183T>C (p.Ala61=)
NM_000507.4(FBP1):c.186T>C (p.Gly62=)
NM_000507.4(FBP1):c.1_170del (p.Met1fs) rs1563991556
NM_000507.4(FBP1):c.216G>A (p.Lys72=)
NM_000507.4(FBP1):c.222G>C (p.Leu74=)
NM_000507.4(FBP1):c.225C>T (p.Asp75=)
NM_000507.4(FBP1):c.228C>T (p.Val76=)
NM_000507.4(FBP1):c.271G>T (p.Ala91Ser) rs41316538
NM_000507.4(FBP1):c.276G>A (p.Thr92=)
NM_000507.4(FBP1):c.27G>C (p.Thr9=)
NM_000507.4(FBP1):c.282_289del (p.Leu95fs)
NM_000507.4(FBP1):c.285C>T (p.Leu95=)
NM_000507.4(FBP1):c.288G>A (p.Val96=)
NM_000507.4(FBP1):c.288G>T (p.Val96=)
NM_000507.4(FBP1):c.30C>T (p.Asp10=)
NM_000507.4(FBP1):c.312C>A (p.Ile104=)
NM_000507.4(FBP1):c.312C>T (p.Ile104=)
NM_000507.4(FBP1):c.323C>T (p.Pro108Leu)
NM_000507.4(FBP1):c.325G>T (p.Glu109Ter)
NM_000507.4(FBP1):c.333+15C>T
NM_000507.4(FBP1):c.333+16C>G
NM_000507.4(FBP1):c.333+16C>T
NM_000507.4(FBP1):c.333+17A>G
NM_000507.4(FBP1):c.333+2T>G
NM_000507.4(FBP1):c.333+8T>C
NM_000507.4(FBP1):c.334-12T>C
NM_000507.4(FBP1):c.334-17C>T
NM_000507.4(FBP1):c.334-5C>G
NM_000507.4(FBP1):c.342T>C (p.Tyr114=)
NM_000507.4(FBP1):c.343_347del (p.Val115fs)
NM_000507.4(FBP1):c.349T>C (p.Cys117Arg) rs1563983269
NM_000507.4(FBP1):c.360C>G (p.Pro120=)
NM_000507.4(FBP1):c.366T>C (p.Asp122=)
NM_000507.4(FBP1):c.369A>C (p.Gly123=)
NM_000507.4(FBP1):c.381C>T (p.Ile127=)
NM_000507.4(FBP1):c.390T>C (p.Leu130=)
NM_000507.4(FBP1):c.392del (p.Val131fs) rs2131486442
NM_000507.4(FBP1):c.396C>A (p.Ser132=)
NM_000507.4(FBP1):c.396C>T (p.Ser132=)
NM_000507.4(FBP1):c.39C>A (p.Thr13=)
NM_000507.4(FBP1):c.39C>T (p.Thr13=)
NM_000507.4(FBP1):c.405C>T (p.Thr135=)
NM_000507.4(FBP1):c.420T>C (p.Tyr140=)
NM_000507.4(FBP1):c.426+12T>C
NM_000507.4(FBP1):c.426+14T>A
NM_000507.4(FBP1):c.426+14T>C
NM_000507.4(FBP1):c.426+1G>A rs1563983184
NM_000507.4(FBP1):c.426+1G>T rs1563983184
NM_000507.4(FBP1):c.426+20G>A
NM_000507.4(FBP1):c.426+7_426+23del
NM_000507.4(FBP1):c.426+8G>A
NM_000507.4(FBP1):c.427-15TCTT[3]
NM_000507.4(FBP1):c.427-2A>G
NM_000507.4(FBP1):c.42G>A (p.Leu14=)
NM_000507.4(FBP1):c.435T>A (p.Thr145=)
NM_000507.4(FBP1):c.450G>A (p.Glu150=)
NM_000507.4(FBP1):c.451A>C (p.Lys151Gln) rs1827760551
NM_000507.4(FBP1):c.456T>C (p.Asp152=)
NM_000507.4(FBP1):c.468A>G (p.Pro156=)
NM_000507.4(FBP1):c.472C>A (p.Arg158=)
NM_000507.4(FBP1):c.474G>C (p.Arg158=) rs764960075
NM_000507.4(FBP1):c.477C>T (p.Asn159=)
NM_000507.4(FBP1):c.479T>G (p.Leu160Arg)
NM_000507.4(FBP1):c.489C>T (p.Ala163=)
NM_000507.4(FBP1):c.498A>C (p.Ala166=) rs778151034
NM_000507.4(FBP1):c.501G>A (p.Leu167=)
NM_000507.4(FBP1):c.504T>A (p.Tyr168Ter)
NM_000507.4(FBP1):c.504T>C (p.Tyr168=)
NM_000507.4(FBP1):c.520C>T (p.Leu174=)
NM_000507.4(FBP1):c.527T>G (p.Leu176Arg)
NM_000507.4(FBP1):c.530C>A (p.Ala177Asp) rs121918189
NM_000507.4(FBP1):c.544del (p.Val182fs) rs1827757538
NM_000507.4(FBP1):c.559C>T (p.Leu187=)
NM_000507.4(FBP1):c.567+15A>G
NM_000507.4(FBP1):c.567+9C>A
NM_000507.4(FBP1):c.568-13C>T
NM_000507.4(FBP1):c.56dup (p.Met19fs)
NM_000507.4(FBP1):c.573C>T (p.Ile191=)
NM_000507.4(FBP1):c.576G>A (p.Gly192=)
NM_000507.4(FBP1):c.577G>T (p.Glu193Ter) rs1563979243
NM_000507.4(FBP1):c.581T>C (p.Phe194Ser) rs121918191
NM_000507.4(FBP1):c.586T>C (p.Leu196=)
NM_000507.4(FBP1):c.597G>A (p.Lys199=)
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) rs761470205
NM_000507.4(FBP1):c.630C>T (p.Tyr210=)
NM_000507.4(FBP1):c.633C>T (p.Ser211=)
NM_000507.4(FBP1):c.639C>A (p.Asn213Lys)
NM_000507.4(FBP1):c.63G>A (p.Glu21=)
NM_000507.4(FBP1):c.648C>T (p.Tyr216=)
NM_000507.4(FBP1):c.651_653delinsTAA (p.Arg218Lys)
NM_000507.4(FBP1):c.663C>T (p.Asp221=) rs772690496
NM_000507.4(FBP1):c.669C>T (p.Ala223=)
NM_000507.4(FBP1):c.66C>G (p.Gly22=)
NM_000507.4(FBP1):c.672C>T (p.Val224=)
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.704C>T (p.Pro235Leu)
NM_000507.4(FBP1):c.704del (p.Pro235fs) rs774362519
NM_000507.4(FBP1):c.705+14C>G
NM_000507.4(FBP1):c.705+15G>A
NM_000507.4(FBP1):c.705+16G>C
NM_000507.4(FBP1):c.705+18G>A
NM_000507.4(FBP1):c.705+20G>A
NM_000507.4(FBP1):c.705+9G>C
NM_000507.4(FBP1):c.706-10T>C
NM_000507.4(FBP1):c.706-11T>A
NM_000507.4(FBP1):c.706-12C>G
NM_000507.4(FBP1):c.706-4G>A
NM_000507.4(FBP1):c.706-9A>C
NM_000507.4(FBP1):c.720_729del (p.Tyr241fs) rs1060499726
NM_000507.4(FBP1):c.723T>G (p.Tyr241Ter)
NM_000507.4(FBP1):c.729C>T (p.Ala243=)
NM_000507.4(FBP1):c.740dup (p.Ser248fs)
NM_000507.4(FBP1):c.741C>T (p.Gly247=)
NM_000507.4(FBP1):c.762T>C (p.His254=)
NM_000507.4(FBP1):c.763C>T (p.Arg255Cys) rs944699141
NM_000507.4(FBP1):c.779del (p.Gly260fs) rs1554679825
NM_000507.4(FBP1):c.801T>C (p.Ala267=)
NM_000507.4(FBP1):c.81C>T (p.Gly27=)
NM_000507.4(FBP1):c.825+11C>T
NM_000507.4(FBP1):c.825+1G>A rs111437558
NM_000507.4(FBP1):c.825+7G>T
NM_000507.4(FBP1):c.826-12C>T
NM_000507.4(FBP1):c.826-15G>A rs148942437
NM_000507.4(FBP1):c.826-15G>T rs148942437
NM_000507.4(FBP1):c.826-16C>T
NM_000507.4(FBP1):c.826-17C>A
NM_000507.4(FBP1):c.826-22G>A rs28369775
NM_000507.4(FBP1):c.826-7T>C rs1827646865
NM_000507.4(FBP1):c.835C>T (p.Leu279=) rs760291471
NM_000507.4(FBP1):c.837G>A (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.846C>A (p.Cys282Ter)
NM_000507.4(FBP1):c.846C>T (p.Cys282=)
NM_000507.4(FBP1):c.849C>T (p.Asn283=)
NM_000507.4(FBP1):c.84G>C (p.Thr28=)
NM_000507.4(FBP1):c.851C>G (p.Pro284Arg) rs121918192
NM_000507.4(FBP1):c.860_863dup (p.Met289fs)
NM_000507.4(FBP1):c.861C>T (p.Tyr287=)
NM_000507.4(FBP1):c.87C>A (p.Gly29=)
NM_000507.4(FBP1):c.881G>A (p.Gly294Glu)
NM_000507.4(FBP1):c.881G>T (p.Gly294Val)
NM_000507.4(FBP1):c.88G>T (p.Glu30Ter) rs121918190
NM_000507.4(FBP1):c.894T>C (p.Thr298=)
NM_000507.4(FBP1):c.900G>A (p.Lys300=)
NM_000507.4(FBP1):c.903G>A (p.Glu301=)
NM_000507.4(FBP1):c.91T>C (p.Leu31=)
NM_000507.4(FBP1):c.926C>A (p.Thr309Lys)
NM_000507.4(FBP1):c.945G>A (p.Ala315=)
NM_000507.4(FBP1):c.948G>A (p.Pro316=)
NM_000507.4(FBP1):c.951G>T (p.Val317=)
NM_000507.4(FBP1):c.957G>A (p.Leu319=)
NM_000507.4(FBP1):c.959_960delinsTG (p.Gly320Val)
NM_000507.4(FBP1):c.960del (p.Ser321fs)
NM_000507.4(FBP1):c.960delinsGG (p.Ser321fs) rs1057517733
NM_000507.4(FBP1):c.961dup (p.Ser321fs)
NM_000507.4(FBP1):c.966C>T (p.Pro322=)
NM_000507.4(FBP1):c.966del (p.Asp323fs) rs747269745
NM_000507.4(FBP1):c.969C>T (p.Asp323=)
NM_000507.4(FBP1):c.96C>A (p.Thr32=)
NM_000507.4(FBP1):c.971A>G (p.Asp324Gly) rs1827640590
NM_000507.4(FBP1):c.972C>T (p.Asp324=)
NM_000507.4(FBP1):c.978C>G (p.Leu326=)
NM_000507.4(FBP1):c.981G>A (p.Glu327=)
NM_000507.4(FBP1):c.984C>T (p.Phe328=)
NM_000507.4(FBP1):c.985C>A (p.Leu329Met) rs2131469421
NM_000507.4(FBP1):c.986T>C (p.Leu329Pro) rs1248299502
Single allele

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