ClinVar Miner

List of variants in gene ALDOB reported as likely pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
Download table as spreadsheet
HGVS dbSNP
NC_000009.11:g.(?_104169266_104189861del
NC_000009.11:g.(?_104187883_104189197del
NC_000009.11:g.(?_104187884_104189197del
NC_000009.11:g.104198025_104198100del
NM_000035.4(ALDOB):c.*516T>A
NM_000035.4(ALDOB):c.-11+1G>C rs181639417
NM_000035.4(ALDOB):c.1007_1008delinsT (p.Cys336fs)
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696
NM_000035.4(ALDOB):c.1044_1049delinsACACT (p.Ser349fs)
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+1G>A
NM_000035.4(ALDOB):c.112+1del rs1057516534
NM_000035.4(ALDOB):c.113-1G>A
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039
NM_000035.4(ALDOB):c.146del (p.Val49fs)
NM_000035.4(ALDOB):c.170G>C (p.Arg57Pro)
NM_000035.4(ALDOB):c.172C>T (p.Gln58Ter)
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000035.4(ALDOB):c.214C>T (p.Gln72Ter)
NM_000035.4(ALDOB):c.250del (p.Leu84fs)
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu) rs200585150
NM_000035.4(ALDOB):c.287del (p.Asn96fs) rs1554702890
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)
NM_000035.4(ALDOB):c.306_317dup (p.Val104_Ile107dup)
NM_000035.4(ALDOB):c.324+1G>A rs764826805
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.325-1G>C
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)
NM_000035.4(ALDOB):c.345_372del (p.Leu116fs)
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.379+1G>A rs138121153
NM_000035.4(ALDOB):c.379+1G>T
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.439A>T (p.Lys147Ter)
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter) rs1057516902
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)
NM_000035.4(ALDOB):c.474T>A (p.Cys158Ter)
NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter) rs752902486
NM_000035.4(ALDOB):c.532T>C (p.Cys178Arg)
NM_000035.4(ALDOB):c.540+1G>C
NM_000035.4(ALDOB):c.541-153_800-175del
NM_000035.4(ALDOB):c.541-277_651del
NM_000035.4(ALDOB):c.546del (p.Leu183fs) rs1057517091
NM_000035.4(ALDOB):c.554C>G (p.Pro185Arg)
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.625-1G>A rs1564077542
NM_000035.4(ALDOB):c.625-2A>G rs786204503
NM_000035.4(ALDOB):c.62del (p.Gln21fs)
NM_000035.4(ALDOB):c.677G>A (p.Gly226Asp)
NM_000035.4(ALDOB):c.683_688dup (p.Lys230_Pro231insMetLeu)
NM_000035.4(ALDOB):c.689del (p.Lys230fs)
NM_000035.4(ALDOB):c.712dup (p.His238fs) rs1554702425
NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter) rs118204426
NM_000035.4(ALDOB):c.761dup (p.Thr255fs)
NM_000035.4(ALDOB):c.799+2T>A
NM_000035.4(ALDOB):c.800-2A>C rs199965465
NM_000035.4(ALDOB):c.812del (p.Leu271fs) rs1554702353
NM_000035.4(ALDOB):c.839C>A (p.Ala280Asp)
NM_000035.4(ALDOB):c.841_842del (p.Thr281fs)
NM_000035.4(ALDOB):c.851T>C (p.Leu284Pro)
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter)
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.932T>C (p.Leu311Pro)
NM_000035.4(ALDOB):c.940dup (p.Trp314fs) rs1554702328
NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter) rs1554702325
NM_000035.4(ALDOB):c.949_950insCAGGGCCCGTGCACTGGCTGCCTGGGGTGGCA (p.Lys317fs)
NM_000035.4(ALDOB):c.954_995del (p.Ala319_Ala332del)
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter) rs1172384674
NM_000035.4:c.-10_624del
NM_000035.4:c.1_624del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.