ClinVar Miner

List of variants studied for Hereditary fructosuria by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 335
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.156T>G (p.Thr52=) rs149671008 0.00302
NM_000035.4(ALDOB):c.799+6G>A rs141888548 0.00251
NM_000035.4(ALDOB):c.906T>C (p.Tyr302=) rs138866018 0.00151
NM_000035.4(ALDOB):c.324+8C>G rs118168553 0.00103
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys) rs35885472 0.00086
NM_000035.4(ALDOB):c.325-19T>G rs200798661 0.00066
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.524C>A (p.Ala175Asp) rs76917243 0.00030
NM_000035.4(ALDOB):c.582T>C (p.Asp194=) rs141988626 0.00022
NM_000035.4(ALDOB):c.334G>A (p.Gly112Arg) rs373330514 0.00021
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.1011G>A (p.Gln337=) rs566549564 0.00011
NM_000035.4(ALDOB):c.166C>T (p.Arg56Cys) rs201397971 0.00011
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.488C>T (p.Ala163Val) rs202210810 0.00009
NM_000035.4(ALDOB):c.590A>G (p.His197Arg) rs368140282 0.00008
NM_000035.4(ALDOB):c.991C>T (p.Arg331Trp) rs150407710 0.00007
NM_000035.4(ALDOB):c.226G>A (p.Gly76Ser) rs759204107 0.00006
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.379+1G>T rs138121153 0.00004
NM_000035.4(ALDOB):c.468C>T (p.Asp156=) rs778013891 0.00004
NM_000035.4(ALDOB):c.-11+1G>C rs181639417 0.00003
NM_000035.4(ALDOB):c.507C>T (p.Asn169=) rs746351347 0.00003
NM_000035.4(ALDOB):c.517C>T (p.Arg173Cys) rs778058461 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.800-2A>C rs199965465 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.136A>T (p.Arg46Trp) rs41281039 0.00001
NM_000035.4(ALDOB):c.147G>A (p.Val49=) rs777794664 0.00001
NM_000035.4(ALDOB):c.179G>A (p.Arg60Gln) rs141267935 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.2T>C (p.Met1Thr) rs1270747182 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.344C>T (p.Pro115Leu) rs763058812 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.523G>A (p.Ala175Thr) rs755134927 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.612T>A (p.Tyr204Ter) rs370793608 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
NC_000009.11:g.(?_104124710)_(104500261_?)del
NC_000009.11:g.(?_104184081)_(104184196_?)del
NC_000009.11:g.(?_104188817)_(104193189_?)del
NC_000009.11:g.(?_104188827)_(104193169_?)del
NC_000009.12:g.(?_101424833)_(101437751_?)del
NC_000009.12:g.(?_101426493)_(101437751_?)del
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.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.1007_1008delinsT (p.Cys336fs) rs1831052831
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.10C>T (p.Arg4Ter) rs118204428
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.113-1G>A rs748663340
NM_000035.4(ALDOB):c.113-1G>C rs748663340
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.113-2A>G
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.136del (p.Arg46fs)
NM_000035.4(ALDOB):c.149_155dup (p.Glu53fs) rs2118362726
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.1A>G (p.Met1Val)
NM_000035.4(ALDOB):c.1A>T (p.Met1Leu)
NM_000035.4(ALDOB):c.204T>C (p.Ser68=) rs1831191276
NM_000035.4(ALDOB):c.225G>A (p.Gly75=)
NM_000035.4(ALDOB):c.227dup (p.Val77fs) rs2118362340
NM_000035.4(ALDOB):c.231G>A (p.Val77=)
NM_000035.4(ALDOB):c.231G>T (p.Val77=) rs2118362315
NM_000035.4(ALDOB):c.235del (p.Leu79fs)
NM_000035.4(ALDOB):c.249C>T (p.Thr83=) rs1831190387
NM_000035.4(ALDOB):c.250del (p.Leu84fs) rs1831190354
NM_000035.4(ALDOB):c.252C>G (p.Leu84=) rs1831190272
NM_000035.4(ALDOB):c.252C>T (p.Leu84=)
NM_000035.4(ALDOB):c.255C>G (p.Tyr85Ter) rs761063847
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.271G>T (p.Gly91Ter)
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.2T>G (p.Met1Arg)
NM_000035.4(ALDOB):c.302del (p.Lys101fs) rs974582114
NM_000035.4(ALDOB):c.306_317dup (p.Val104_Ile107dup) rs1376128325
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+1G>A rs764826805
NM_000035.4(ALDOB):c.324+20C>G
NM_000035.4(ALDOB):c.324+2T>A rs1057516379
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.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.325-15T>C
NM_000035.4(ALDOB):c.325-1G>T rs1402966846
NM_000035.4(ALDOB):c.325-9T>C
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter) rs528914024
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.341C>T (p.Ala114Val)
NM_000035.4(ALDOB):c.346C>T (p.Leu116Phe)
NM_000035.4(ALDOB):c.34C>T (p.Gln12Ter) rs190631679
NM_000035.4(ALDOB):c.351A>G (p.Ala117=) rs2118358644
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.360del (p.Asn120fs) rs2118358565
NM_000035.4(ALDOB):c.369C>A (p.Thr123=) rs775336756
NM_000035.4(ALDOB):c.372C>G (p.Thr124=)
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+1G>A rs138121153
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.380-2A>G rs1300461861
NM_000035.4(ALDOB):c.380-4G>T rs747876844
NM_000035.4(ALDOB):c.380-9G>T
NM_000035.4(ALDOB):c.400C>A (p.Arg134Ser) rs10123355
NM_000035.4(ALDOB):c.402C>T (p.Arg134=)
NM_000035.4(ALDOB):c.414C>A (p.Tyr138Ter)
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.427del (p.Val143fs) rs2118355498
NM_000035.4(ALDOB):c.435T>C (p.Phe145=) rs2118355452
NM_000035.4(ALDOB):c.438G>C (p.Gly146=)
NM_000035.4(ALDOB):c.43del (p.Glu15fs) rs1831209087
NM_000035.4(ALDOB):c.441G>A (p.Lys147=) rs770794608
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter) rs1057516902
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.466G>A (p.Asp156Asn) rs752810910
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter) rs1831149748
NM_000035.4(ALDOB):c.472T>A (p.Cys158Ser) rs1386846765
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.505A>G (p.Asn169Asp) rs1460923575
NM_000035.4(ALDOB):c.508G>A (p.Ala170Thr)
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.522C>G (p.Tyr174Ter) rs752902486
NM_000035.4(ALDOB):c.529A>C (p.Ile177Leu) rs139442303
NM_000035.4(ALDOB):c.531C>T (p.Ile177=) rs760339672
NM_000035.4(ALDOB):c.539del (p.Gln180fs)
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.541-277_651del
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.556A>G (p.Ile186Val)
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.607C>T (p.Gln203Ter) rs868392830
NM_000035.4(ALDOB):c.60C>T (p.Ala20=)
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.61C>T (p.Gln21Ter) rs2118366288
NM_000035.4(ALDOB):c.621G>A (p.Glu207=) rs765681180
NM_000035.4(ALDOB):c.624+19G>A
NM_000035.4(ALDOB):c.624+1G>C
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.642C>A (p.Tyr214Ter)
NM_000035.4(ALDOB):c.645G>A (p.Lys215=)
NM_000035.4(ALDOB):c.669C>T (p.Tyr223=)
NM_000035.4(ALDOB):c.673del (p.Glu225fs) rs758133069
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.733A>G (p.Thr245Ala) rs748031490
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.742C>T (p.Gln248Ter)
NM_000035.4(ALDOB):c.756C>T (p.Ala252=)
NM_000035.4(ALDOB):c.759C>A (p.Thr253=) rs146360505
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000035.4(ALDOB):c.761dup (p.Thr255fs) rs2118345550
NM_000035.4(ALDOB):c.770T>C (p.Leu257Pro) rs764701775
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.794T>C (p.Val265Ala)
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+1G>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.841_842del (p.Thr281fs) rs2118342944
NM_000035.4(ALDOB):c.855T>C (p.Asn285=)
NM_000035.4(ALDOB):c.858T>G (p.Ala286=)
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000035.4(ALDOB):c.870C>T (p.Cys290=)
NM_000035.4(ALDOB):c.87G>A (p.Gly29=)
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter) rs1249398093
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter) rs1057517133
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.934G>A (p.Ala312Thr)
NM_000035.4(ALDOB):c.948C>A (p.Gly316=) rs2118342090
NM_000035.4(ALDOB):c.949_950insCAGGGCCCGTGCACTGGCTGCCTGGGGTGGCA (p.Lys317fs)
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter) rs1172384674
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.999+2T>C
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.