ClinVar Miner

List of variants in gene ALDOB reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000035.4(ALDOB):c.*268T>C rs142431256 0.00648
NM_000035.4(ALDOB):c.*1119C>T rs41296051 0.00284
NM_000035.4(ALDOB):c.*12C>T rs201867948 0.00118
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys) rs35885472 0.00086
NM_000035.4(ALDOB):c.681C>T (p.Thr227=) rs61757689 0.00032
NM_000035.4(ALDOB):c.334G>A (p.Gly112Arg) rs373330514 0.00021
NM_000035.4(ALDOB):c.*286C>T rs886063291 0.00016
NM_000035.4(ALDOB):c.*898T>C rs886063287 0.00013
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg) rs118204430 0.00013
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268 0.00013
NM_000035.4(ALDOB):c.*819A>C rs780375040 0.00011
NM_000035.4(ALDOB):c.1011G>A (p.Gln337=) rs566549564 0.00011
NM_000035.4(ALDOB):c.166C>T (p.Arg56Cys) rs201397971 0.00011
NM_000035.4(ALDOB):c.445C>T (p.Arg149Cys) rs190464963 0.00011
NM_000035.4(ALDOB):c.*568G>A rs978202633 0.00009
NM_000035.4(ALDOB):c.127C>T (p.Arg43Cys) rs772473508 0.00009
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val) rs202210810 0.00009
NM_000035.4(ALDOB):c.352G>A (p.Gly118Arg) rs200382297 0.00008
NM_000035.4(ALDOB):c.590A>G (p.His197Arg) rs368140282 0.00008
NM_000035.4(ALDOB):c.*503T>C rs954756064 0.00007
NM_000035.4(ALDOB):c.991C>T (p.Arg331Trp) rs150407710 0.00007
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696 0.00006
NM_000035.4(ALDOB):c.226G>A (p.Gly76Ser) rs759204107 0.00006
NM_000035.4(ALDOB):c.849C>T (p.Asn283=) rs202062631 0.00006
NM_000035.4(ALDOB):c.401G>A (p.Arg134His) rs145252200 0.00004
NM_000035.4(ALDOB):c.*209C>T rs1038724691 0.00003
NM_000035.4(ALDOB):c.128G>A (p.Arg43His) rs780442649 0.00003
NM_000035.4(ALDOB):c.517C>T (p.Arg173Cys) rs778058461 0.00003
NM_000035.4(ALDOB):c.255C>T (p.Tyr85=) rs761063847 0.00002
NM_000035.4(ALDOB):c.557T>C (p.Ile186Thr) rs770158282 0.00002
NM_000035.4(ALDOB):c.910C>T (p.Arg304Trp) rs555935217 0.00002
NM_000035.4(ALDOB):c.954T>C (p.Ala318=) rs572044496 0.00002
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039 0.00001
NM_000035.4(ALDOB):c.179G>A (p.Arg60Gln) rs141267935 0.00001
NM_000035.4(ALDOB):c.187C>T (p.Leu63Phe) rs780352710 0.00001
NM_000035.4(ALDOB):c.243C>T (p.His81=) rs182003715 0.00001
NM_000035.4(ALDOB):c.270G>A (p.Gln90=) rs1176960115 0.00001
NM_000035.4(ALDOB):c.309C>T (p.Ile103=) rs747019279 0.00001
NM_000035.4(ALDOB):c.344C>T (p.Pro115Leu) rs763058812 0.00001
NM_000035.4(ALDOB):c.523G>A (p.Ala175Thr) rs755134927 0.00001
NM_000035.4(ALDOB):c.583G>A (p.Gly195Arg) rs777601413 0.00001
NM_000035.4(ALDOB):c.640T>C (p.Tyr214His) rs748157721 0.00001
NM_000035.4(ALDOB):c.698T>A (p.Met233Lys) rs777324536 0.00001
NM_000035.4(ALDOB):c.94G>C (p.Ala32Pro) rs1831207922 0.00001
NM_000035.4(ALDOB):c.956C>T (p.Ala319Val) rs755508323 0.00001
NM_000035.4(ALDOB):c.*145A>G rs552865615
NM_000035.4(ALDOB):c.*150del rs200345626
NM_000035.4(ALDOB):c.*26C>T rs1831050459
NM_000035.4(ALDOB):c.*289C>G rs886063290
NM_000035.4(ALDOB):c.*683T>C rs1831039987
NM_000035.4(ALDOB):c.*714A>G rs886063289
NM_000035.4(ALDOB):c.*729G>C rs1831039466
NM_000035.4(ALDOB):c.*802A>G rs886063288
NM_000035.4(ALDOB):c.1063C>T (p.Gln355Ter) rs1554702065
NM_000035.4(ALDOB):c.113-7A>C rs1588172399
NM_000035.4(ALDOB):c.137G>A (p.Arg46Lys) rs199920124
NM_000035.4(ALDOB):c.178C>A (p.Arg60=) rs118204429
NM_000035.4(ALDOB):c.221T>C (p.Ile74Thr) rs781023784
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu) rs200585150
NM_000035.4(ALDOB):c.264C>T (p.Asp88=) rs200585150
NM_000035.4(ALDOB):c.282C>T (p.Phe94=) rs549682194
NM_000035.4(ALDOB):c.306_317dup (p.Val104_Ile107dup) rs1376128325
NM_000035.4(ALDOB):c.341C>T (p.Ala114Val)
NM_000035.4(ALDOB):c.346C>T (p.Leu116Phe)
NM_000035.4(ALDOB):c.375T>C (p.Ile125=) rs886063292
NM_000035.4(ALDOB):c.37A>C (p.Lys13Gln)
NM_000035.4(ALDOB):c.466G>A (p.Asp156Asn) rs752810910
NM_000035.4(ALDOB):c.472T>A (p.Cys158Ser) rs1386846765
NM_000035.4(ALDOB):c.486C>G (p.Leu162=) rs773334784
NM_000035.4(ALDOB):c.486C>T (p.Leu162=) rs773334784
NM_000035.4(ALDOB):c.505A>G (p.Asn169Asp) rs1460923575
NM_000035.4(ALDOB):c.508G>A (p.Ala170Thr)
NM_000035.4(ALDOB):c.529A>C (p.Ile177Leu) rs139442303
NM_000035.4(ALDOB):c.529A>G (p.Ile177Val) rs139442303
NM_000035.4(ALDOB):c.556A>G (p.Ile186Val)
NM_000035.4(ALDOB):c.664G>T (p.Val222Phe) rs1554702442
NM_000035.4(ALDOB):c.680C>A (p.Thr227Asn) rs371219301
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro) rs1554702433
NM_000035.4(ALDOB):c.733A>G (p.Thr245Ala) rs748031490
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000035.4(ALDOB):c.76A>T (p.Asn26Tyr)
NM_000035.4(ALDOB):c.794T>C (p.Val265Ala)
NM_000035.4(ALDOB):c.806_808del (p.Cys269del) rs1159180033
NM_000035.4(ALDOB):c.934G>A (p.Ala312Thr)
NM_000035.4(ALDOB):c.971C>T (p.Thr324Ile) rs2118341906
NM_000035.4(ALDOB):c.992G>A (p.Arg331Gln) rs371526091

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.