ClinVar Miner

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

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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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.490G>A (p.Gly164Ser) rs121918188 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NC_000009.12:g.94620330_94620492del rs1563984164
NM_000507.4(FBP1):c.170+4A>G
NM_000507.4(FBP1):c.349T>C (p.Cys117Arg) rs1563983269
NM_000507.4(FBP1):c.426+1G>T rs1563983184
NM_000507.4(FBP1):c.427-2A>G
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) rs761470205
NM_000507.4(FBP1):c.639C>A (p.Asn213Lys)
NM_000507.4(FBP1):c.704del (p.Pro235fs) rs774362519
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000507.4(FBP1):c.881G>T (p.Gly294Val)
NM_000507.4(FBP1):c.986T>C (p.Leu329Pro) rs1248299502
Single allele

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