ClinVar Miner

List of variants reported as likely benign for Fructose-biphosphatase deficiency by Invitae

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ClinVar version:
Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_000507.4(FBP1):c.745A>C (p.Met249Leu) rs147392679 0.00065
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.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.195C>T (p.Asn65=) rs146859261 0.00006
NM_000507.4(FBP1):c.915C>T (p.Asp305=) rs762285012 0.00006
NM_000507.4(FBP1):c.606G>A (p.Lys202=) rs111596938 0.00004
NM_000507.4(FBP1):c.306C>T (p.His102=) rs776366063 0.00003
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.639C>T (p.Asn213=) rs762007074 0.00001
NM_000507.4(FBP1):c.777C>T (p.Tyr259=) rs1435646320 0.00001
NM_000507.4(FBP1):c.978C>T (p.Leu326=) rs774118438 0.00001
NM_000507.4(FBP1):c.1008T>C (p.Ser336=)
NM_000507.4(FBP1):c.120A>G (p.Thr40=)
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.170+18C>T
NM_000507.4(FBP1):c.170+19G>T
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.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.276G>A (p.Thr92=)
NM_000507.4(FBP1):c.27G>C (p.Thr9=)
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.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+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.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.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+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.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.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.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>C (p.Tyr168=)
NM_000507.4(FBP1):c.520C>T (p.Leu174=)
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.573C>T (p.Ile191=)
NM_000507.4(FBP1):c.576G>A (p.Gly192=)
NM_000507.4(FBP1):c.586T>C (p.Leu196=)
NM_000507.4(FBP1):c.597G>A (p.Lys199=)
NM_000507.4(FBP1):c.630C>T (p.Tyr210=)
NM_000507.4(FBP1):c.633C>T (p.Ser211=)
NM_000507.4(FBP1):c.63G>A (p.Glu21=)
NM_000507.4(FBP1):c.648C>T (p.Tyr216=)
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.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+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.729C>T (p.Ala243=)
NM_000507.4(FBP1):c.741C>T (p.Gly247=)
NM_000507.4(FBP1):c.762T>C (p.His254=)
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+7G>T
NM_000507.4(FBP1):c.826-12C>T
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.826-7T>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.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.861C>T (p.Tyr287=)
NM_000507.4(FBP1):c.87C>A (p.Gly29=)
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.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.966C>T (p.Pro322=)
NM_000507.4(FBP1):c.969C>T (p.Asp323=)
NM_000507.4(FBP1):c.96C>A (p.Thr32=)
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=)

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