ClinVar Miner

List of variants in gene FBP1 reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
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.1_170del (p.Met1fs) rs1563991556
NM_000507.4(FBP1):c.355G>A (p.Asp119Asn) rs758609113
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp) rs766005419
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser) rs121918188
NM_000507.4(FBP1):c.530C>A (p.Ala177Asp) rs121918189
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.704del (p.Pro235fs) rs774362519
NM_000507.4(FBP1):c.720_729del (p.Tyr241fs) rs1060499726
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192
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.851C>G (p.Pro284Arg) rs121918192
NM_000507.4(FBP1):c.88G>T (p.Glu30Ter) rs121918190
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154

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