List of variants reported as likely pathogenic for Fructose-biphosphatase deficiency by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NC_000009.12:g.94620330_94620492del	rs1563984164
NM_000507.4(FBP1):c.349T>C (p.Cys117Arg)	rs1563983269
NM_000507.4(FBP1):c.426+1G>T	rs1563983184
NM_000507.4(FBP1):c.611_614del (p.Lys204fs)	rs761470205

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