ClinVar Miner

List of variants reported as benign for Fructose-biphosphatase deficiency

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Total variants: 22
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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.-194C>T rs2296707 0.10821
NM_000507.4(FBP1):c.276G>T (p.Thr92=) rs16910744 0.04339
NM_000507.4(FBP1):c.237C>T (p.Asn79=) rs201591116 0.00398
NM_000507.4(FBP1):c.865A>T (p.Met289Leu) rs145771944 0.00369
NM_000507.4(FBP1):c.345G>A (p.Val115=) rs61753273 0.00078
NM_000507.4(FBP1):c.334-15T>C rs370920869 0.00063
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp) rs200679026 0.00028
NM_000507.4(FBP1):c.906C>T (p.Ala302=) rs28369776 0.00026
NM_000507.4(FBP1):c.826-9G>C rs200948424 0.00008
NM_000507.4(FBP1):c.798C>T (p.Pro266=) rs142811660 0.00006
NM_000507.4(FBP1):c.651_653delinsTAA (p.Arg218Lys)
NM_000507.4(FBP1):c.697T>A (p.Phe233Ile) rs2297085
NM_000507.4(FBP1):c.705+18G>A
NM_000507.4(FBP1):c.826-15G>A rs148942437
NM_000507.4(FBP1):c.826-22G>A rs28369775

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