ClinVar Miner

List of variants reported as likely pathogenic for Hereditary fructosuria

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Total variants: 29
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HGVS dbSNP
NM_000035.4(ALDOB):c.-11+1G>C rs181639417
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000035.4(ALDOB):c.1095G>C (p.Ter365Tyr) rs900220679
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.112+1del rs1057516534
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000035.4(ALDOB):c.287del (p.Asn96fs) rs1554702890
NM_000035.4(ALDOB):c.324+2T>A rs1057516379
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.325-1G>A rs1402966846
NM_000035.4(ALDOB):c.356_359CAAA[1] (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.379+1G>A rs138121153
NM_000035.4(ALDOB):c.380-1G>A rs1554702666
NM_000035.4(ALDOB):c.380-2A>G rs1300461861
NM_000035.4(ALDOB):c.420del (p.Asp141fs) rs1057517421
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter) rs1057516902
NM_000035.4(ALDOB):c.546del (p.Leu183fs) rs1057517091
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.625-2A>G rs786204503
NM_000035.4(ALDOB):c.712dup (p.His238fs) rs1554702425
NM_000035.4(ALDOB):c.800-2A>C rs199965465
NM_000035.4(ALDOB):c.812del (p.Leu271fs) rs1554702353
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter) rs1057517133
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268
NM_000035.4(ALDOB):c.940dup (p.Trp314fs) rs1554702328
NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter) rs1554702325
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter) rs1172384674

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