ClinVar Miner

List of variants studied for carbohydrate metabolism disease by ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000035.4(ALDOB):c.-214G>A rs185972191 0.00678
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243 0.00030
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.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429 0.00010
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696 0.00006
NM_000035.4(ALDOB):c.-11+1G>C rs181639417 0.00003
NM_000035.4(ALDOB):c.910C>T (p.Arg304Trp) rs555935217 0.00002
NM_000035.4(ALDOB):c.*516T>A rs1402343211 0.00001
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039 0.00001
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr) rs1270747182 0.00001
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608 0.00001
NC_000009.12:g.101435743_101435818del rs2118377686
NM_000035.4(ALDOB):c.1000-1_1006delinsTG rs2118333206
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.1044_1049delinsACACT (p.Ser349fs) rs2118332973
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.112+1G>A rs2118366070
NM_000035.4(ALDOB):c.112+1del rs1057516534
NM_000035.4(ALDOB):c.113-1G>A rs748663340
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.146del (p.Val49fs) rs2118362762
NM_000035.4(ALDOB):c.170G>C (p.Arg57Pro) rs370761101
NM_000035.4(ALDOB):c.221T>C (p.Ile74Thr) rs781023784
NM_000035.4(ALDOB):c.250del (p.Leu84fs) rs1831190354
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu) rs200585150
NM_000035.4(ALDOB):c.306_317dup (p.Val104_Ile107dup) rs1376128325
NM_000035.4(ALDOB):c.324+1G>A rs764826805
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.325-1G>C rs1402966846
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter) rs528914024
NM_000035.4(ALDOB):c.345_372del (p.Leu116fs) rs2118358456
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.380-1G>A rs1554702666
NM_000035.4(ALDOB):c.403T>C (p.Cys135Arg) rs2118355570
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter) rs1057516902
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter) rs1831149748
NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter) rs752902486
NM_000035.4(ALDOB):c.532T>C (p.Cys178Arg) rs2118354587
NM_000035.4(ALDOB):c.540+1G>C rs2118354551
NM_000035.4(ALDOB):c.541-153_800-175del
NM_000035.4(ALDOB):c.548_553del (p.Leu183_Val184del) rs387906226
NM_000035.4(ALDOB):c.554C>G (p.Pro185Arg) rs2118350958
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) rs2118366284
NM_000035.4(ALDOB):c.664G>T (p.Val222Phe) rs1554702442
NM_000035.4(ALDOB):c.677G>A (p.Gly226Asp) rs2118346537
NM_000035.4(ALDOB):c.683_688dup (p.Leu229_Lys230insMetLeu) rs1478306331
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro) rs1554702433
NM_000035.4(ALDOB):c.689del (p.Lys230fs) rs2118346335
NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter) rs118204426
NM_000035.4(ALDOB):c.761dup (p.Thr255fs) rs2118345550
NM_000035.4(ALDOB):c.770T>C (p.Leu257Pro) rs764701775
NM_000035.4(ALDOB):c.799+2T>A rs2118345193
NM_000035.4(ALDOB):c.839C>A (p.Ala280Asp) rs1831103567
NM_000035.4(ALDOB):c.841_842del (p.Thr281fs) rs2118342944
NM_000035.4(ALDOB):c.851T>C (p.Leu284Pro) rs2118342839
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000035.4(ALDOB):c.932T>C (p.Leu311Pro) rs2118342191
NM_000035.4(ALDOB):c.940dup (p.Trp314fs) rs1554702328
NM_000035.4(ALDOB):c.954_995del (p.Ala319_Ala332del) rs2118341777
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.