ClinVar Miner

List of variants in gene ALDH6A1, BBOF1 studied for amino acid metabolism disease

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005589.4(ALDH6A1):c.*142C>T rs8017248 0.98056
NM_005589.4(ALDH6A1):c.730+13A>C rs2072293 0.39899
NM_005589.4(ALDH6A1):c.*1934T>C rs10200 0.23558
NM_005589.4(ALDH6A1):c.*1157G>C rs4646866 0.23461
NM_005589.4(ALDH6A1):c.*1148C>T rs4646865 0.23441
NM_005589.4(ALDH6A1):c.*155T>C rs8204 0.17644
NM_005589.4(ALDH6A1):c.112-11G>T rs2302126 0.15764
NM_005589.4(ALDH6A1):c.*433C>T rs1135886 0.11114
NM_005589.4(ALDH6A1):c.*2816T>C rs1536 0.11048
NM_005589.4(ALDH6A1):c.*494A>T rs77324906 0.05972
NM_005589.4(ALDH6A1):c.*642C>T rs4646864 0.05891
NM_005589.4(ALDH6A1):c.*2994A>C rs114251476 0.03392
NM_005589.4(ALDH6A1):c.*1032C>T rs146306002 0.02550
NM_005589.4(ALDH6A1):c.*2680A>G rs10139971 0.01924
NM_005589.4(ALDH6A1):c.*2361G>A rs112689182 0.01755
NM_005589.4(ALDH6A1):c.*1623C>T rs112962625 0.01722
NM_005589.4(ALDH6A1):c.*1015C>T rs144507608 0.01721
NM_005589.4(ALDH6A1):c.349-13G>A rs45510700 0.01704
NM_005589.4(ALDH6A1):c.*1181G>A rs150649694 0.01512
NM_005589.4(ALDH6A1):c.636G>A (p.Glu212=) rs8008790 0.01439
NM_005589.4(ALDH6A1):c.*2517T>C rs145794069 0.01119
NM_005589.4(ALDH6A1):c.*1006C>T rs146605362 0.00981
NM_005589.4(ALDH6A1):c.*980A>G rs148780249 0.00914
NM_005589.4(ALDH6A1):c.731-12T>C rs10146187 0.00912
NM_005589.4(ALDH6A1):c.*2298G>A rs76665287 0.00830
NM_005589.4(ALDH6A1):c.*1514A>G rs115564279 0.00652
NM_005589.4(ALDH6A1):c.*2157C>T rs116025535 0.00573
NM_005589.4(ALDH6A1):c.*1904G>C rs147392789 0.00503
NM_005589.4(ALDH6A1):c.1455C>T (p.Thr485=) rs147004133 0.00477
NM_005589.4(ALDH6A1):c.414A>G (p.Val138=) rs4899491 0.00354
NM_005589.4(ALDH6A1):c.*1820G>A rs111624130 0.00225
NM_005589.4(ALDH6A1):c.*234C>T rs117311919 0.00150
NM_005589.4(ALDH6A1):c.*1655C>T rs12147048 0.00146
NM_005589.4(ALDH6A1):c.*1367A>G rs186963818 0.00145
NM_005589.4(ALDH6A1):c.*1602G>A rs550384718 0.00133
NM_005589.4(ALDH6A1):c.194A>G (p.Asn65Ser) rs111975186 0.00090
NM_005589.4(ALDH6A1):c.145G>A (p.Val49Ile) rs140308322 0.00086
NM_005589.4(ALDH6A1):c.*1011C>A rs181399266 0.00081
NM_005589.4(ALDH6A1):c.*1601C>T rs1001370504 0.00040
NM_005589.4(ALDH6A1):c.1604G>A (p.Arg535His) rs183066442 0.00038
NM_005589.4(ALDH6A1):c.*1208C>T rs533760077 0.00035
NM_005589.4(ALDH6A1):c.151T>C (p.Ser51Pro) rs61745707 0.00031
NM_005589.4(ALDH6A1):c.*2491G>T rs181822532 0.00029
NM_005589.4(ALDH6A1):c.*567C>T rs75199385 0.00029
NM_005589.4(ALDH6A1):c.*1887A>C rs566580516 0.00028
NM_005589.4(ALDH6A1):c.97T>A (p.Phe33Ile) rs182720934 0.00022
NM_005589.4(ALDH6A1):c.*991G>A rs945903840 0.00020
NM_005589.4(ALDH6A1):c.112-15G>T rs752587472 0.00017
NM_005589.4(ALDH6A1):c.*839T>G rs765576515 0.00016
NM_005589.4(ALDH6A1):c.*1050C>G rs918680042 0.00009
NM_005589.4(ALDH6A1):c.186+6C>T rs188543079 0.00009
NM_005589.4(ALDH6A1):c.*1534G>A rs1047039253 0.00007
NM_005589.4(ALDH6A1):c.*377C>A rs886050729 0.00006
NM_005589.4(ALDH6A1):c.*558A>G rs1050633882 0.00006
NM_005589.4(ALDH6A1):c.1156C>T (p.Arg386Ter) rs781767219 0.00005
NM_005589.4(ALDH6A1):c.1373G>A (p.Arg458Gln) rs369223978 0.00005
NM_005589.4(ALDH6A1):c.646G>A (p.Gly216Arg) rs199899407 0.00004
NM_005589.4(ALDH6A1):c.*2861C>T rs939793039 0.00003
NM_005589.4(ALDH6A1):c.799G>A (p.Glu267Lys) rs763810979 0.00003
NM_005589.4(ALDH6A1):c.908A>G (p.Asn303Ser) rs376852895 0.00003
NM_005589.4(ALDH6A1):c.*1759C>T rs922749897 0.00002
NM_005589.4(ALDH6A1):c.*2328C>T rs750992221 0.00002
NM_005589.4(ALDH6A1):c.1261C>T (p.Pro421Ser) rs775391997 0.00002
NM_005589.4(ALDH6A1):c.1400G>A (p.Gly467Glu) rs747566637 0.00002
NM_005589.4(ALDH6A1):c.*2774G>C rs2060253320 0.00001
NM_005589.4(ALDH6A1):c.1221C>G (p.Val407=) rs756896845 0.00001
NM_005589.4(ALDH6A1):c.1603C>T (p.Arg535Cys) rs367863044 0.00001
NM_005589.4(ALDH6A1):c.235A>G (p.Met79Val) rs771440193 0.00001
NM_005589.4(ALDH6A1):c.80G>A (p.Trp27Ter) rs764104981 0.00001
NM_005589.4(ALDH6A1):c.827A>G (p.His276Arg) rs779188591 0.00001
NM_005589.4(ALDH6A1):c.921G>A (p.Gly307=) rs1402487087 0.00001
NM_005589.4(ALDH6A1):c.*1016G>A rs139735554
NM_005589.4(ALDH6A1):c.*1386A>G rs2060286462
NM_005589.4(ALDH6A1):c.*1427A>G rs2060285999
NM_005589.4(ALDH6A1):c.*1938A>G rs72725924
NM_005589.4(ALDH6A1):c.*1963C>T rs185004947
NM_005589.4(ALDH6A1):c.*2261T>C rs2060267487
NM_005589.4(ALDH6A1):c.*2422C>A rs945573017
NM_005589.4(ALDH6A1):c.*309G>A rs150950908
NM_005589.4(ALDH6A1):c.*403T>C rs1135885
NM_005589.4(ALDH6A1):c.*403T>G rs1135885
NM_005589.4(ALDH6A1):c.*43C>G rs545399557
NM_005589.4(ALDH6A1):c.*599C>G rs113031892
NM_005589.4(ALDH6A1):c.*97T>C rs2060316331
NM_005589.4(ALDH6A1):c.112-14T>G rs886050732
NM_005589.4(ALDH6A1):c.112-1G>A rs1566834093
NM_005589.4(ALDH6A1):c.112-31GTTT[5] rs370924173
NM_005589.4(ALDH6A1):c.112-31GTTT[7] rs370924173
NM_005589.4(ALDH6A1):c.1307A>G (p.Gln436Arg) rs1037162967
NM_005589.4(ALDH6A1):c.1336G>A (p.Gly446Arg) rs72552258
NM_005589.4(ALDH6A1):c.1397T>C (p.Val466Ala) rs764356053
NM_005589.4(ALDH6A1):c.1479A>G (p.Gly493=) rs886050730
NM_005589.4(ALDH6A1):c.1551AGA[2] (p.Glu519del) rs771596943
NM_005589.4(ALDH6A1):c.184C>T (p.Pro62Ser) rs796065046
NM_005589.4(ALDH6A1):c.189C>T (p.Ala63=) rs886050731
NM_005589.4(ALDH6A1):c.248T>C (p.Ile83Thr)
NM_005589.4(ALDH6A1):c.349-3T>C
NM_005589.4(ALDH6A1):c.411T>C (p.Asp137=) rs750775712
NM_005589.4(ALDH6A1):c.514T>C (p.Tyr172His) rs869320672
NM_005589.4(ALDH6A1):c.748G>T (p.Asp250Tyr) rs761850051
NM_005589.4(ALDH6A1):c.759C>T (p.Asp253=) rs375211888
NM_005589.4(ALDH6A1):c.785C>A (p.Ser262Tyr) rs879255579
NM_005589.4(ALDH6A1):c.853-11dup rs528185481
NM_005589.4(ALDH6A1):c.856G>T (p.Ala286Ser) rs1328953759
NM_005589.4(ALDH6A1):c.874_877dup (p.Met293fs) rs751748364

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.