ClinVar Miner

List of variants reported as uncertain significance for Fructose-biphosphatase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000507.4(FBP1):c.*121T>G rs2274689 0.01225
NM_000507.4(FBP1):c.-154C>G rs28382860 0.00743
NM_000507.4(FBP1):c.237C>T (p.Asn79=) rs201591116 0.00398
NM_000507.3(FBP1):c.-238G>A rs974736435 0.00098
NM_000507.4(FBP1):c.334-15T>C rs370920869 0.00063
NM_000507.4(FBP1):c.275C>T (p.Thr92Met) rs141270413 0.00052
NM_001127628.2(FBP1):c.-24-321C>G rs28382859 0.00041
NM_000507.4(FBP1):c.670G>A (p.Val224Ile) rs140222720 0.00040
NM_000507.4(FBP1):c.102G>C (p.Leu34=) rs143832764 0.00029
NM_000507.4(FBP1):c.495C>T (p.Tyr165=) rs139264724 0.00029
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.*152C>T rs190431674 0.00011
NM_000507.4(FBP1):c.-130C>A rs1003899519 0.00011
NM_000507.4(FBP1):c.-59A>T rs913996916 0.00010
NM_000507.4(FBP1):c.14C>A (p.Ala5Glu) rs759615686 0.00010
NM_000507.3(FBP1):c.-246G>T rs921192380 0.00004
NM_000507.4(FBP1):c.477C>G (p.Asn159Lys) rs199531187 0.00004
NM_000507.4(FBP1):c.764G>T (p.Arg255Leu) rs28369761 0.00004
NM_000507.3(FBP1):c.-215G>C rs987543611 0.00003
NM_000507.4(FBP1):c.-18G>T rs1006994685 0.00003
NM_000507.4(FBP1):c.649G>A (p.Ala217Thr) rs569127795 0.00003
NM_000507.3(FBP1):c.-219C>T rs1057515693 0.00002
NM_000507.4(FBP1):c.721T>C (p.Tyr241His) rs757338386 0.00002
NM_000507.4(FBP1):c.397G>A (p.Val133Ile) rs368583779 0.00001
NM_000507.4(FBP1):c.443C>A (p.Pro148His) rs753167849 0.00001
NM_000507.4(FBP1):c.668C>A (p.Ala223Asp) rs369420846 0.00001
NM_000507.4(FBP1):c.705A>G (p.Pro235=) rs112446147 0.00001
NM_000507.4(FBP1):c.731G>A (p.Arg244Gln) rs775808681 0.00001
NM_000507.4(FBP1):c.889A>G (p.Thr297Ala) rs758841300 0.00001
NM_000507.4(FBP1):c.970G>A (p.Asp324Asn) rs201508880 0.00001
NM_000507.4(FBP1):c.997G>A (p.Glu333Lys) rs1564191912 0.00001
NM_000507.4(FBP1):c.*127C>T rs1827636938
NM_000507.4(FBP1):c.-208C>G rs759920853
NM_000507.4(FBP1):c.-54C>A rs1057515690
NM_000507.4(FBP1):c.169C>T (p.Leu57Phe) rs1427047737
NM_000507.4(FBP1):c.697T>C (p.Phe233Leu) rs2297085
NM_000507.4(FBP1):c.826-15G>A rs148942437
NM_000507.4(FBP1):c.826-15G>T rs148942437
NM_000507.4(FBP1):c.826-7T>C rs1827646865
NM_000507.4(FBP1):c.835C>T (p.Leu279=) rs760291471

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