ClinVar Miner

List of variants reported as benign for Fructose-biphosphatase deficiency by Genome-Nilou Lab

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000507.4(FBP1):c.653G>A (p.Arg218Lys) rs1769259 0.95944
NM_000507.4(FBP1):c.960A>G (p.Gly320=) rs1769257 0.88821
NM_000507.4(FBP1):c.*21C>T rs9695 0.51483
NM_000507.4(FBP1):c.705+14C>T rs2297084 0.51109
NM_000507.4(FBP1):c.567+31G>A rs3739747 0.41075
NM_000507.4(FBP1):c.426+7C>T rs8192689 0.31642
NM_000507.4(FBP1):c.651C>T (p.Ala217=) rs1042144 0.30883
NM_000507.4(FBP1):c.826-22G>A rs28369775

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