ClinVar Miner

List of variants reported as likely pathogenic for Fructose-biphosphatase deficiency

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Total variants: 4
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HGVS dbSNP
NC_000009.12:g.94620329_94620491del163 rs1563984164
NM_000507.4(FBP1):c.611_614del (p.Lys204fs)
NM_001127628.1(FBP1):c.349T>C (p.Cys117Arg) rs1563983269
NM_001127628.1(FBP1):c.426+1G>T rs1563983184

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