ClinVar Miner

List of variants in gene FBP1 reported as pathogenic for Fructose-biphosphatase deficiency

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154 0.00022
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.490G>A (p.Gly164Ser) rs121918188 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
GRCh37/hg19 9q22.32(chr9:97401423-97401592)
GRCh37/hg19 9q22.32(chr9:97401423-97401593)
NC_000009.12:g.(?_94639121)_(94639330_?)del
NM_000507.4(FBP1):c.114_119dup (p.Cys39_Thr40dup) rs1554682769
NM_000507.4(FBP1):c.127A>T (p.Lys43Ter) rs2131509216
NM_000507.4(FBP1):c.131_132del (p.Ala44fs)
NM_000507.4(FBP1):c.1_170del (p.Met1fs) rs1563991556
NM_000507.4(FBP1):c.282_289del (p.Leu95fs)
NM_000507.4(FBP1):c.325G>T (p.Glu109Ter)
NM_000507.4(FBP1):c.333+2T>G
NM_000507.4(FBP1):c.343_347del (p.Val115fs)
NM_000507.4(FBP1):c.392del (p.Val131fs) rs2131486442
NM_000507.4(FBP1):c.426+1G>A rs1563983184
NM_000507.4(FBP1):c.504T>A (p.Tyr168Ter)
NM_000507.4(FBP1):c.530C>A (p.Ala177Asp) rs121918189
NM_000507.4(FBP1):c.544del (p.Val182fs) rs1827757538
NM_000507.4(FBP1):c.56dup (p.Met19fs)
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.611_614del (p.Lys204fs) rs761470205
NM_000507.4(FBP1):c.704del (p.Pro235fs) rs774362519
NM_000507.4(FBP1):c.720_729del (p.Tyr241fs) rs1060499726
NM_000507.4(FBP1):c.723T>G (p.Tyr241Ter)
NM_000507.4(FBP1):c.740dup (p.Ser248fs)
NM_000507.4(FBP1):c.779del (p.Gly260fs) rs1554679825
NM_000507.4(FBP1):c.825+1G>A rs111437558
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.851C>G (p.Pro284Arg) rs121918192
NM_000507.4(FBP1):c.860_863dup (p.Met289fs)
NM_000507.4(FBP1):c.881G>A (p.Gly294Glu)
NM_000507.4(FBP1):c.88G>T (p.Glu30Ter) rs121918190
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.966del (p.Asp323fs) rs747269745
NM_000507.4(FBP1):c.986T>C (p.Leu329Pro) rs1248299502

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