ClinVar Miner

List of variants reported as likely benign for Hereditary fructosuria

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 243
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008 0.00302
NM_000035.4(ALDOB):c.799+6G>A rs141888548 0.00251
NM_000035.4(ALDOB):c.*152A>G rs192418526 0.00156
NM_000035.4(ALDOB):c.906T>C (p.Tyr302=) rs138866018 0.00151
NM_000035.4(ALDOB):c.*12C>T rs201867948 0.00118
NM_000035.4(ALDOB):c.*752C>G rs555999328 0.00098
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys) rs35885472 0.00086
NM_000035.4(ALDOB):c.525C>T (p.Ala175=) rs144196914 0.00058
NM_000035.4(ALDOB):c.799+11C>T rs182245025 0.00051
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln) rs3739721 0.00046
NM_000035.4(ALDOB):c.681C>T (p.Thr227=) rs61757689 0.00032
NM_000035.4(ALDOB):c.*849T>C rs181650438 0.00024
NM_000035.4(ALDOB):c.582T>C (p.Asp194=) rs141988626 0.00018
NM_000035.4(ALDOB):c.*567C>T rs540272117 0.00012
NM_000035.4(ALDOB):c.1011G>A (p.Gln337=) rs566549564 0.00011
NM_000035.4(ALDOB):c.501C>T (p.Asn167=) rs186836225 0.00006
NM_000035.4(ALDOB):c.849C>T (p.Asn283=) rs202062631 0.00006
NM_000035.4(ALDOB):c.207C>T (p.Ser69=) rs779129856 0.00004
NM_000035.4(ALDOB):c.468C>T (p.Asp156=) rs778013891 0.00004
NM_000035.4(ALDOB):c.507C>T (p.Asn169=) rs746351347 0.00003
NM_000035.4(ALDOB):c.522C>T (p.Tyr174=) rs752902486 0.00003
NM_000035.4(ALDOB):c.1068G>A (p.Ser356=) rs377173333 0.00002
NM_000035.4(ALDOB):c.255C>T (p.Tyr85=) rs761063847 0.00002
NM_000035.4(ALDOB):c.465C>T (p.Ala155=) rs569981883 0.00002
NM_000035.4(ALDOB):c.690G>A (p.Lys230=) rs376978142 0.00002
NM_000035.4(ALDOB):c.780T>C (p.Thr260=) rs965153604 0.00002
NM_000035.4(ALDOB):c.954T>C (p.Ala318=) rs572044496 0.00002
NM_000035.4(ALDOB):c.966G>A (p.Glu322=) rs149166711 0.00002
NM_000035.4(ALDOB):c.1014G>A (p.Ala338=) rs546735701 0.00001
NM_000035.4(ALDOB):c.1026G>A (p.Gln342=) rs995263904 0.00001
NM_000035.4(ALDOB):c.1035C>T (p.His345=) rs761508514 0.00001
NM_000035.4(ALDOB):c.105A>G (p.Glu35=) rs770470240 0.00001
NM_000035.4(ALDOB):c.1062C>G (p.Thr354=) rs779217157 0.00001
NM_000035.4(ALDOB):c.1065G>A (p.Gln355=) rs1218895360 0.00001
NM_000035.4(ALDOB):c.113-9C>T rs1831193811 0.00001
NM_000035.4(ALDOB):c.147G>A (p.Val49=) rs777794664 0.00001
NM_000035.4(ALDOB):c.201C>T (p.Asp67=) rs1201355810 0.00001
NM_000035.4(ALDOB):c.222C>T (p.Ile74=) rs754735910 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.285A>G (p.Arg95=) rs773510589 0.00001
NM_000035.4(ALDOB):c.309C>T (p.Ile103=) rs747019279 0.00001
NM_000035.4(ALDOB):c.318A>G (p.Gly106=) rs142196987 0.00001
NM_000035.4(ALDOB):c.396A>G (p.Ser132=) rs751964153 0.00001
NM_000035.4(ALDOB):c.399G>A (p.Glu133=) rs1436764381 0.00001
NM_000035.4(ALDOB):c.489T>A (p.Ala163=) rs578048957 0.00001
NM_000035.4(ALDOB):c.537G>A (p.Gln179=) rs775053176 0.00001
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys) rs574635615 0.00001
NM_000035.4(ALDOB):c.540+9C>A rs371263581 0.00001
NM_000035.4(ALDOB):c.654T>C (p.Asn218=) rs780943027 0.00001
NM_000035.4(ALDOB):c.708T>C (p.Ala236=) rs761151751 0.00001
NM_000035.4(ALDOB):c.750T>A (p.Ala250=) rs150644101 0.00001
NM_000035.4(ALDOB):c.813G>A (p.Leu271=) rs1168325070 0.00001
NM_000035.4(ALDOB):c.873T>A (p.Pro291=) rs765247994 0.00001
NM_000035.4(ALDOB):c.933G>A (p.Leu311=) rs541062220 0.00001
NM_000035.4(ALDOB):c.996C>T (p.Ala332=) rs1334639976 0.00001
NM_000035.4(ALDOB):c.1000-12T>C
NM_000035.4(ALDOB):c.1000-13A>G
NM_000035.4(ALDOB):c.1000-14T>C
NM_000035.4(ALDOB):c.1000-17T>C
NM_000035.4(ALDOB):c.1000-20C>G
NM_000035.4(ALDOB):c.1000-6T>C
NM_000035.4(ALDOB):c.1008C>T (p.Cys336=)
NM_000035.4(ALDOB):c.102T>C (p.Asp34=)
NM_000035.4(ALDOB):c.1038G>A (p.Thr346=)
NM_000035.4(ALDOB):c.1038G>T (p.Thr346=)
NM_000035.4(ALDOB):c.1044T>C (p.Ser348=) rs2118333009
NM_000035.4(ALDOB):c.1047T>C (p.Ser349=)
NM_000035.4(ALDOB):c.1059C>T (p.Ser353=)
NM_000035.4(ALDOB):c.1062C>T (p.Thr354=)
NM_000035.4(ALDOB):c.1071C>A (p.Leu357=)
NM_000035.4(ALDOB):c.1089C>G (p.Thr363=)
NM_000035.4(ALDOB):c.112+10A>G rs2118366036
NM_000035.4(ALDOB):c.112+12A>G
NM_000035.4(ALDOB):c.112+17G>A
NM_000035.4(ALDOB):c.112+17G>T
NM_000035.4(ALDOB):c.112+20T>A
NM_000035.4(ALDOB):c.112+7G>A rs1831206891
NM_000035.4(ALDOB):c.112+9A>G
NM_000035.4(ALDOB):c.113-10C>T
NM_000035.4(ALDOB):c.113-13C>T
NM_000035.4(ALDOB):c.113-17T>C
NM_000035.4(ALDOB):c.113-4A>G
NM_000035.4(ALDOB):c.113-7A>G
NM_000035.4(ALDOB):c.113-8C>A rs2118362981
NM_000035.4(ALDOB):c.114T>A (p.Gly38=)
NM_000035.4(ALDOB):c.114T>C (p.Gly38=)
NM_000035.4(ALDOB):c.129C>T (p.Arg43=)
NM_000035.4(ALDOB):c.162G>A (p.Glu54=)
NM_000035.4(ALDOB):c.165C>T (p.Asn55=)
NM_000035.4(ALDOB):c.168C>T (p.Arg56=)
NM_000035.4(ALDOB):c.171G>A (p.Arg57=) rs1297759351
NM_000035.4(ALDOB):c.171G>C (p.Arg57=)
NM_000035.4(ALDOB):c.178C>A (p.Arg60=) rs118204429
NM_000035.4(ALDOB):c.186C>T (p.Ile62=) rs1588172329
NM_000035.4(ALDOB):c.18A>T (p.Pro6=) rs1344537476
NM_000035.4(ALDOB):c.204T>C (p.Ser68=) rs1831191276
NM_000035.4(ALDOB):c.225G>A (p.Gly75=)
NM_000035.4(ALDOB):c.231G>A (p.Val77=)
NM_000035.4(ALDOB):c.231G>T (p.Val77=) rs2118362315
NM_000035.4(ALDOB):c.249C>T (p.Thr83=) rs1831190387
NM_000035.4(ALDOB):c.252C>G (p.Leu84=) rs1831190272
NM_000035.4(ALDOB):c.252C>T (p.Leu84=)
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.277C>T (p.Leu93=) rs2118362136
NM_000035.4(ALDOB):c.279G>C (p.Leu93=)
NM_000035.4(ALDOB):c.27C>G (p.Thr9=)
NM_000035.4(ALDOB):c.282C>T (p.Phe94=) rs549682194
NM_000035.4(ALDOB):c.294C>G (p.Leu98=) rs2118362024
NM_000035.4(ALDOB):c.294C>T (p.Leu98=)
NM_000035.4(ALDOB):c.312G>T (p.Val104=) rs1831188786
NM_000035.4(ALDOB):c.315G>A (p.Val105=) rs561489667
NM_000035.4(ALDOB):c.324+16C>T
NM_000035.4(ALDOB):c.324+18C>G
NM_000035.4(ALDOB):c.324+20C>G
NM_000035.4(ALDOB):c.324+7A>C rs1452396378
NM_000035.4(ALDOB):c.324+9C>G
NM_000035.4(ALDOB):c.324+9C>T rs761258365
NM_000035.4(ALDOB):c.325-15T>C
NM_000035.4(ALDOB):c.325-9T>C
NM_000035.4(ALDOB):c.336A>C (p.Gly112=) rs1248064943
NM_000035.4(ALDOB):c.33G>A (p.Glu11=) rs544090689
NM_000035.4(ALDOB):c.351A>G (p.Ala117=) rs2118358644
NM_000035.4(ALDOB):c.369C>A (p.Thr123=) rs775336756
NM_000035.4(ALDOB):c.372C>G (p.Thr124=)
NM_000035.4(ALDOB):c.375T>C (p.Ile125=) rs886063292
NM_000035.4(ALDOB):c.379+12G>T
NM_000035.4(ALDOB):c.379+14C>G
NM_000035.4(ALDOB):c.379+18T>C
NM_000035.4(ALDOB):c.379+9A>T rs778567515
NM_000035.4(ALDOB):c.380-12T>C
NM_000035.4(ALDOB):c.380-17T>C
NM_000035.4(ALDOB):c.380-19T>C
NM_000035.4(ALDOB):c.380-4G>T rs747876844
NM_000035.4(ALDOB):c.380-9G>T
NM_000035.4(ALDOB):c.402C>T (p.Arg134=)
NM_000035.4(ALDOB):c.423T>C (p.Asp141=) rs2118355518
NM_000035.4(ALDOB):c.426T>C (p.Gly142=) rs774491597
NM_000035.4(ALDOB):c.435T>C (p.Phe145=) rs2118355452
NM_000035.4(ALDOB):c.438G>C (p.Gly146=)
NM_000035.4(ALDOB):c.441G>A (p.Lys147=) rs770794608
NM_000035.4(ALDOB):c.450T>A (p.Ala150=)
NM_000035.4(ALDOB):c.462T>C (p.Ile154=) rs2118355269
NM_000035.4(ALDOB):c.465C>A (p.Ala155=) rs569981883
NM_000035.4(ALDOB):c.474T>C (p.Cys158=) rs1179941004
NM_000035.4(ALDOB):c.477A>G (p.Pro159=)
NM_000035.4(ALDOB):c.480C>T (p.Ser160=) rs2118355075
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.510C>T (p.Ala170=)
NM_000035.4(ALDOB):c.511C>T (p.Leu171=) rs2118354804
NM_000035.4(ALDOB):c.51A>G (p.Ser17=) rs2118366331
NM_000035.4(ALDOB):c.531C>T (p.Ile177=) rs760339672
NM_000035.4(ALDOB):c.540+11T>C
NM_000035.4(ALDOB):c.540+15C>T
NM_000035.4(ALDOB):c.540+16C>T
NM_000035.4(ALDOB):c.540+19G>A
NM_000035.4(ALDOB):c.541-5T>C rs533131687
NM_000035.4(ALDOB):c.546A>G (p.Gly182=)
NM_000035.4(ALDOB):c.547C>T (p.Leu183=) rs1831133410
NM_000035.4(ALDOB):c.549G>T (p.Leu183=) rs1564077875
NM_000035.4(ALDOB):c.567A>G (p.Pro189=) rs2118350882
NM_000035.4(ALDOB):c.591T>C (p.His197=)
NM_000035.4(ALDOB):c.594C>T (p.Asp198=)
NM_000035.4(ALDOB):c.595C>T (p.Leu199=) rs1831132321
NM_000035.4(ALDOB):c.603C>T (p.His201=)
NM_000035.4(ALDOB):c.606C>T (p.Cys202=)
NM_000035.4(ALDOB):c.60C>T (p.Ala20=)
NM_000035.4(ALDOB):c.621G>A (p.Glu207=) rs765681180
NM_000035.4(ALDOB):c.624+19G>A
NM_000035.4(ALDOB):c.624+20G>C
NM_000035.4(ALDOB):c.624+9T>G
NM_000035.4(ALDOB):c.625-10T>C rs2118347030
NM_000035.4(ALDOB):c.625-15C>T
NM_000035.4(ALDOB):c.625-20T>A
NM_000035.4(ALDOB):c.625-9G>T rs1564077543
NM_000035.4(ALDOB):c.625-9_625-7dup
NM_000035.4(ALDOB):c.627C>G (p.Val209=)
NM_000035.4(ALDOB):c.627C>T (p.Val209=)
NM_000035.4(ALDOB):c.628C>T (p.Leu210=)
NM_000035.4(ALDOB):c.645G>A (p.Lys215=)
NM_000035.4(ALDOB):c.669C>T (p.Tyr223=)
NM_000035.4(ALDOB):c.675G>A (p.Glu225=)
NM_000035.4(ALDOB):c.687A>C (p.Leu229=)
NM_000035.4(ALDOB):c.687A>G (p.Leu229=)
NM_000035.4(ALDOB):c.6C>T (p.Ala2=)
NM_000035.4(ALDOB):c.705T>G (p.Thr235=)
NM_000035.4(ALDOB):c.717C>T (p.Ala239=) rs772197524
NM_000035.4(ALDOB):c.723C>G (p.Thr241=)
NM_000035.4(ALDOB):c.72T>C (p.Val24=)
NM_000035.4(ALDOB):c.732T>C (p.Tyr244=)
NM_000035.4(ALDOB):c.735T>C (p.Thr245=)
NM_000035.4(ALDOB):c.738A>G (p.Pro246=) rs781139407
NM_000035.4(ALDOB):c.741A>G (p.Glu247=)
NM_000035.4(ALDOB):c.756C>T (p.Ala252=)
NM_000035.4(ALDOB):c.759C>A (p.Thr253=) rs146360505
NM_000035.4(ALDOB):c.771C>T (p.Leu257=)
NM_000035.4(ALDOB):c.774C>T (p.His258=)
NM_000035.4(ALDOB):c.786T>A (p.Pro262=)
NM_000035.4(ALDOB):c.78T>C (p.Asn26=)
NM_000035.4(ALDOB):c.799+16T>C
NM_000035.4(ALDOB):c.799+17T>C
NM_000035.4(ALDOB):c.799+19T>A
NM_000035.4(ALDOB):c.799+20C>G
NM_000035.4(ALDOB):c.799+7C>T
NM_000035.4(ALDOB):c.800-10C>G rs375872252
NM_000035.4(ALDOB):c.800-10C>T
NM_000035.4(ALDOB):c.800-11T>C
NM_000035.4(ALDOB):c.800-12C>A
NM_000035.4(ALDOB):c.800-12C>T
NM_000035.4(ALDOB):c.800-13T>G
NM_000035.4(ALDOB):c.800-15C>T
NM_000035.4(ALDOB):c.800-5A>G rs199971480
NM_000035.4(ALDOB):c.800-6T>C rs763222245
NM_000035.4(ALDOB):c.800-7C>T
NM_000035.4(ALDOB):c.800-8C>T rs2118343372
NM_000035.4(ALDOB):c.819T>C (p.Gly273=) rs778370988
NM_000035.4(ALDOB):c.828T>C (p.Ser276=)
NM_000035.4(ALDOB):c.840C>T (p.Ala280=)
NM_000035.4(ALDOB):c.855T>C (p.Asn285=)
NM_000035.4(ALDOB):c.858T>G (p.Ala286=)
NM_000035.4(ALDOB):c.870C>T (p.Cys290=)
NM_000035.4(ALDOB):c.87G>A (p.Gly29=)
NM_000035.4(ALDOB):c.891A>G (p.Lys297=)
NM_000035.4(ALDOB):c.912G>A (p.Arg304=) rs1588170091
NM_000035.4(ALDOB):c.912G>C (p.Arg304=) rs1588170091
NM_000035.4(ALDOB):c.915C>G (p.Ala305=) rs1400203483
NM_000035.4(ALDOB):c.921G>A (p.Gln307=)
NM_000035.4(ALDOB):c.927T>C (p.Ser309=)
NM_000035.4(ALDOB):c.931C>T (p.Leu311=)
NM_000035.4(ALDOB):c.933G>T (p.Leu311=)
NM_000035.4(ALDOB):c.948C>A (p.Gly316=) rs2118342090
NM_000035.4(ALDOB):c.96T>C (p.Ala32=)
NM_000035.4(ALDOB):c.96T>G (p.Ala32=) rs928855259
NM_000035.4(ALDOB):c.972C>G (p.Thr324=)
NM_000035.4(ALDOB):c.972C>T (p.Thr324=) rs952816406
NM_000035.4(ALDOB):c.999+10T>A
NM_000035.4(ALDOB):c.999+10T>C
NM_000035.4(ALDOB):c.999+12C>A
NM_000035.4(ALDOB):c.999+14A>G
NM_000035.4(ALDOB):c.999+18C>T
NM_000035.4(ALDOB):c.99A>C (p.Ala33=) rs1322360698

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.