ClinVar Miner

List of variants in gene ALDH5A1 reported as uncertain significance for Succinate-semialdehyde dehydrogenase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 231
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001080.3(ALDH5A1):c.*472C>T rs140376278 0.00156
NM_001080.3(ALDH5A1):c.*942A>G rs750171065 0.00081
NM_001080.3(ALDH5A1):c.*2852C>G rs560247554 0.00070
NM_001080.3(ALDH5A1):c.*563G>A rs528167769 0.00066
NM_001080.3(ALDH5A1):c.*2903C>T rs532636189 0.00051
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=) rs148188703 0.00047
NM_001080.3(ALDH5A1):c.*1355C>T rs138759652 0.00041
NM_001080.3(ALDH5A1):c.1531G>A (p.Gly511Ser) rs377658514 0.00041
NM_001080.3(ALDH5A1):c.*2400G>C rs745635354 0.00040
NM_001080.3(ALDH5A1):c.*1033T>C rs755282343 0.00036
NM_001080.3(ALDH5A1):c.*1485C>T rs745486717 0.00035
NM_001080.3(ALDH5A1):c.*1221C>T rs376290382 0.00030
NM_001080.3(ALDH5A1):c.*1230T>G rs778833032 0.00023
NM_001080.3(ALDH5A1):c.1344-6T>C rs368212282 0.00020
NM_001080.3(ALDH5A1):c.831G>A (p.Val277=) rs138912422 0.00019
NM_001080.3(ALDH5A1):c.518G>A (p.Arg173His) rs369366567 0.00018
NM_001080.3(ALDH5A1):c.*2097C>T rs773800021 0.00016
NM_001080.3(ALDH5A1):c.*2737G>A rs146569813 0.00016
NM_001080.3(ALDH5A1):c.1308T>G (p.His436Gln) rs199500997 0.00016
NM_001080.3(ALDH5A1):c.1316C>T (p.Thr439Ile) rs139633130 0.00015
NM_001080.3(ALDH5A1):c.735C>G (p.Ser245Arg) rs141430899 0.00015
NM_001080.3(ALDH5A1):c.1163C>T (p.Ala388Val) rs536355368 0.00014
NM_001080.3(ALDH5A1):c.1280A>G (p.Asn427Ser) rs149793005 0.00014
NM_001080.3(ALDH5A1):c.*7T>C rs199767765 0.00013
NM_001080.3(ALDH5A1):c.*3298A>G rs968683849 0.00012
NM_001080.3(ALDH5A1):c.*2109A>G rs560935505 0.00011
NM_001080.3(ALDH5A1):c.*2861G>A rs886061280 0.00010
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala) rs373320785 0.00010
NM_001080.3(ALDH5A1):c.*2675G>A rs912565317 0.00009
NM_001080.3(ALDH5A1):c.*318C>T rs748017937 0.00009
NM_001080.3(ALDH5A1):c.*696T>C rs886061272 0.00009
NM_001080.3(ALDH5A1):c.727-13T>G rs187404409 0.00009
NM_001080.3(ALDH5A1):c.*1139C>G rs933728436 0.00008
NM_001080.3(ALDH5A1):c.*970C>T rs886061273 0.00008
NM_001080.3(ALDH5A1):c.*1658C>T rs775036676 0.00007
NM_001080.3(ALDH5A1):c.764A>G (p.Asn255Ser) rs145087265 0.00007
NM_001080.3(ALDH5A1):c.1285A>T (p.Thr429Ser) rs1283096489 0.00006
NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=) rs372455508 0.00006
NM_001080.3(ALDH5A1):c.652G>A (p.Ala218Thr) rs772998296 0.00006
NM_001080.3(ALDH5A1):c.*1918G>A rs559549612 0.00005
NM_001080.3(ALDH5A1):c.*2869T>G rs189158766 0.00005
NM_001080.3(ALDH5A1):c.*3120T>C rs1201326402 0.00005
NM_001080.3(ALDH5A1):c.*3146C>T rs567288319 0.00005
NM_001080.3(ALDH5A1):c.1169A>G (p.Glu390Gly) rs142677472 0.00005
NM_001080.3(ALDH5A1):c.1381G>A (p.Ala461Thr) rs768957232 0.00005
NM_001080.3(ALDH5A1):c.1412A>C (p.Tyr471Ser) rs71555150 0.00005
NM_001080.3(ALDH5A1):c.676G>A (p.Val226Met) rs770884090 0.00005
NM_001080.3(ALDH5A1):c.*1248C>G rs183328132 0.00004
NM_001080.3(ALDH5A1):c.*1851C>T rs1038337724 0.00004
NM_001080.3(ALDH5A1):c.*2488G>A rs1002588077 0.00004
NM_001080.3(ALDH5A1):c.*3277C>T rs886061282 0.00004
NM_001080.3(ALDH5A1):c.*960C>T rs879652592 0.00004
NM_001080.3(ALDH5A1):c.*980T>C rs886061274 0.00004
NM_001080.3(ALDH5A1):c.1186G>A (p.Val396Met) rs199686669 0.00004
NM_001080.3(ALDH5A1):c.1277G>A (p.Cys426Tyr) rs764512077 0.00004
NM_001080.3(ALDH5A1):c.1354G>C (p.Glu452Gln) rs781336101 0.00004
NM_001080.3(ALDH5A1):c.1588G>C (p.Val530Leu) rs1027980375 0.00004
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met) rs768219929 0.00004
NM_001080.3(ALDH5A1):c.794A>C (p.Lys265Thr) rs201146454 0.00004
NM_001080.3(ALDH5A1):c.924C>T (p.Gly308=) rs188108571 0.00004
NM_001080.3(ALDH5A1):c.*1674C>T rs184664416 0.00003
NM_001080.3(ALDH5A1):c.*2414G>A rs886061278 0.00003
NM_001080.3(ALDH5A1):c.1051G>T (p.Gly351Cys) rs772638789 0.00003
NM_001080.3(ALDH5A1):c.1264C>T (p.Pro422Ser) rs752944770 0.00003
NM_001080.3(ALDH5A1):c.1374C>T (p.Ile458=) rs775722631 0.00003
NM_001080.3(ALDH5A1):c.1480G>A (p.Glu494Lys) rs374232934 0.00003
NM_001080.3(ALDH5A1):c.1535T>G (p.Leu512Arg) rs752005255 0.00003
NM_001080.3(ALDH5A1):c.1541G>A (p.Arg514Gln) rs1232923691 0.00003
NM_001080.3(ALDH5A1):c.1558G>A (p.Gly520Ser) rs1179619995 0.00003
NM_001080.3(ALDH5A1):c.1606T>C (p.Ter536Gln) rs201484501 0.00003
NM_001080.3(ALDH5A1):c.533T>C (p.Ile178Thr) rs375773360 0.00003
NM_001080.3(ALDH5A1):c.563C>T (p.Ala188Val) rs779139147 0.00003
NM_001080.3(ALDH5A1):c.583A>G (p.Ile195Val) rs759237061 0.00003
NM_001080.3(ALDH5A1):c.584T>C (p.Ile195Thr) rs923917352 0.00003
NM_001080.3(ALDH5A1):c.651C>T (p.Ala217=) rs4646837 0.00003
NM_001080.3(ALDH5A1):c.663C>T (p.Ala221=) rs760461822 0.00003
NM_001080.3(ALDH5A1):c.664G>A (p.Gly222Ser) rs766251446 0.00003
NM_001080.3(ALDH5A1):c.*2720C>A rs560949465 0.00002
NM_001080.3(ALDH5A1):c.1114A>G (p.Asn372Asp) rs200308698 0.00002
NM_001080.3(ALDH5A1):c.1320C>T (p.Phe440=) rs771829991 0.00002
NM_001080.3(ALDH5A1):c.1336G>C (p.Val446Leu) rs370942126 0.00002
NM_001080.3(ALDH5A1):c.560G>A (p.Arg187Gln) rs755160772 0.00002
NM_001080.3(ALDH5A1):c.609G>A (p.Pro203=) rs142373741 0.00002
NM_001080.3(ALDH5A1):c.*1267dup rs886061275 0.00001
NM_001080.3(ALDH5A1):c.*1422C>A rs567445773 0.00001
NM_001080.3(ALDH5A1):c.*1426T>C rs574203430 0.00001
NM_001080.3(ALDH5A1):c.*3224C>G rs886061281 0.00001
NM_001080.3(ALDH5A1):c.*550C>T rs886061269 0.00001
NM_001080.3(ALDH5A1):c.1081G>A (p.Ala361Thr) rs1759722342 0.00001
NM_001080.3(ALDH5A1):c.1082C>T (p.Ala361Val) rs763860786 0.00001
NM_001080.3(ALDH5A1):c.1084G>A (p.Glu362Lys) rs1222413080 0.00001
NM_001080.3(ALDH5A1):c.1105C>T (p.Arg369Cys) rs772038058 0.00001
NM_001080.3(ALDH5A1):c.1108G>A (p.Val370Ile) rs754091433 0.00001
NM_001080.3(ALDH5A1):c.1191T>G (p.Asn397Lys) rs923140210 0.00001
NM_001080.3(ALDH5A1):c.1192G>C (p.Asp398His) rs894412564 0.00001
NM_001080.3(ALDH5A1):c.1235G>A (p.Arg412Gln) rs760658291 0.00001
NM_001080.3(ALDH5A1):c.1252A>C (p.Asn418His) rs759646740 0.00001
NM_001080.3(ALDH5A1):c.1255T>G (p.Phe419Val) rs1219635429 0.00001
NM_001080.3(ALDH5A1):c.1310A>G (p.Glu437Gly) rs201834553 0.00001
NM_001080.3(ALDH5A1):c.1439G>A (p.Arg480Lys) rs1055012664 0.00001
NM_001080.3(ALDH5A1):c.1478A>G (p.Asn493Ser) rs776978579 0.00001
NM_001080.3(ALDH5A1):c.1534C>G (p.Leu512Val) rs1226094055 0.00001
NM_001080.3(ALDH5A1):c.1565A>G (p.Asp522Gly) rs777938693 0.00001
NM_001080.3(ALDH5A1):c.355G>A (p.Glu119Lys) rs763173446 0.00001
NM_001080.3(ALDH5A1):c.374G>A (p.Arg125Gln) rs753604213 0.00001
NM_001080.3(ALDH5A1):c.411C>A (p.Asp137Glu) rs1216101332 0.00001
NM_001080.3(ALDH5A1):c.461A>G (p.His154Arg) rs141686677 0.00001
NM_001080.3(ALDH5A1):c.481G>A (p.Ala161Thr) rs139486423 0.00001
NM_001080.3(ALDH5A1):c.514C>T (p.Arg172Cys) rs551902853 0.00001
NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His) rs773814880 0.00001
NM_001080.3(ALDH5A1):c.532A>G (p.Ile178Val) rs751365223 0.00001
NM_001080.3(ALDH5A1):c.541A>G (p.Thr181Ala) rs975269028 0.00001
NM_001080.3(ALDH5A1):c.595G>A (p.Ala199Thr) rs775136518 0.00001
NM_001080.3(ALDH5A1):c.609+5G>T rs376633237 0.00001
NM_001080.3(ALDH5A1):c.649G>A (p.Ala217Thr) rs1064796319 0.00001
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly) rs757605946 0.00001
NM_001080.3(ALDH5A1):c.781C>G (p.Arg261Gly) rs774496720 0.00001
NM_001080.3(ALDH5A1):c.786G>C (p.Lys262Asn) rs766715554 0.00001
NM_001080.3(ALDH5A1):c.793A>G (p.Lys265Glu) rs760040470 0.00001
NM_001080.3(ALDH5A1):c.798A>T (p.Glu266Asp) rs751098237 0.00001
NM_001080.3(ALDH5A1):c.848C>G (p.Thr283Ser) rs1759548002 0.00001
NM_001080.3(ALDH5A1):c.923G>A (p.Gly308Asp) rs766161222 0.00001
NM_001080.3(ALDH5A1):c.925G>A (p.Gly309Ser) rs768719885 0.00001
NM_001080.3(ALDH5A1):c.958A>G (p.Asn320Asp) rs912930280 0.00001
NC_000006.11:g.(?_24495225)_(24523163_?)dup
NC_000006.11:g.(?_24495225)_(24523173_?)dup
NM_001080.3(ALDH5A1):c.*1322C>T rs886061276
NM_001080.3(ALDH5A1):c.*1531A>G rs886061277
NM_001080.3(ALDH5A1):c.*1537G>C rs1760023694
NM_001080.3(ALDH5A1):c.*2128A>G rs1407401466
NM_001080.3(ALDH5A1):c.*2264G>T rs1760039816
NM_001080.3(ALDH5A1):c.*2449A>G rs886061279
NM_001080.3(ALDH5A1):c.*2788C>G rs1174814411
NM_001080.3(ALDH5A1):c.*3253C>T rs552086179
NM_001080.3(ALDH5A1):c.*56C>T rs182998380
NM_001080.3(ALDH5A1):c.*652_*655del rs779688377
NM_001080.3(ALDH5A1):c.*659T>C rs886061271
NM_001080.3(ALDH5A1):c.1001G>T (p.Arg334Met)
NM_001080.3(ALDH5A1):c.1015-3C>G rs2127387935
NM_001080.3(ALDH5A1):c.1019G>C (p.Cys340Ser) rs1365441831
NM_001080.3(ALDH5A1):c.1020T>G (p.Cys340Trp) rs887448536
NM_001080.3(ALDH5A1):c.1064C>T (p.Ala355Val)
NM_001080.3(ALDH5A1):c.1080C>G (p.Phe360Leu) rs571602201
NM_001080.3(ALDH5A1):c.1091T>C (p.Met364Thr) rs2127387964
NM_001080.3(ALDH5A1):c.1120T>G (p.Phe374Val) rs1561876817
NM_001080.3(ALDH5A1):c.1163C>A (p.Ala388Glu)
NM_001080.3(ALDH5A1):c.1165G>A (p.Val389Ile)
NM_001080.3(ALDH5A1):c.1243C>A (p.Leu415Ile) rs1581824124
NM_001080.3(ALDH5A1):c.1247G>A (p.Gly416Glu)
NM_001080.3(ALDH5A1):c.1267A>G (p.Thr423Ala)
NM_001080.3(ALDH5A1):c.1289A>G (p.Gln430Arg)
NM_001080.3(ALDH5A1):c.1294A>G (p.Met432Val) rs1561879315
NM_001080.3(ALDH5A1):c.1298T>G (p.Leu433Arg) rs1759857234
NM_001080.3(ALDH5A1):c.1319T>C (p.Phe440Ser) rs1759858234
NM_001080.3(ALDH5A1):c.1324C>T (p.Pro442Ser) rs750638943
NM_001080.3(ALDH5A1):c.1325C>G (p.Pro442Arg) rs2127389566
NM_001080.3(ALDH5A1):c.1343+1del rs1561879386
NM_001080.3(ALDH5A1):c.1343+4A>G rs1554137990
NM_001080.3(ALDH5A1):c.1344-3C>T
NM_001080.3(ALDH5A1):c.1350T>A (p.Asp450Glu) rs913676708
NM_001080.3(ALDH5A1):c.1351A>G (p.Thr451Ala)
NM_001080.3(ALDH5A1):c.1355AGG[2] (p.Glu454del) rs1759948859
NM_001080.3(ALDH5A1):c.1375G>A (p.Ala459Thr) rs749276622
NM_001080.3(ALDH5A1):c.1375G>T (p.Ala459Ser) rs749276622
NM_001080.3(ALDH5A1):c.1390G>A (p.Val464Ile)
NM_001080.3(ALDH5A1):c.1391T>C (p.Val464Ala) rs1243219538
NM_001080.3(ALDH5A1):c.1432A>T (p.Ile478Phe)
NM_001080.3(ALDH5A1):c.1456G>C (p.Glu486Gln) rs1759977925
NM_001080.3(ALDH5A1):c.1462G>T (p.Gly488Cys) rs1161171083
NM_001080.3(ALDH5A1):c.1465A>G (p.Met489Val)
NM_001080.3(ALDH5A1):c.1475T>C (p.Val492Ala) rs2127391187
NM_001080.3(ALDH5A1):c.1498G>C (p.Val500Leu) rs999671766
NM_001080.3(ALDH5A1):c.1501G>C (p.Glu501Gln)
NM_001080.3(ALDH5A1):c.1514G>A (p.Gly505Asp) rs1449304427
NM_001080.3(ALDH5A1):c.1529C>T (p.Ser510Phe) rs578023593
NM_001080.3(ALDH5A1):c.1550C>G (p.Ser517Cys)
NM_001080.3(ALDH5A1):c.1562T>C (p.Ile521Thr) rs1475837931
NM_001080.3(ALDH5A1):c.1579C>T (p.Leu527Phe)
NM_001080.3(ALDH5A1):c.1580T>C (p.Leu527Pro) rs1467346651
NM_001080.3(ALDH5A1):c.1588G>A (p.Val530Met)
NM_001080.3(ALDH5A1):c.1591T>C (p.Cys531Arg) rs2127391249
NM_001080.3(ALDH5A1):c.1603T>A (p.Leu535Met)
NM_001080.3(ALDH5A1):c.1607A>T (p.Ter536Leu) rs1338198433
NM_001080.3(ALDH5A1):c.355-3C>T rs1759217851
NM_001080.3(ALDH5A1):c.373C>T (p.Arg125Trp) rs201082048
NM_001080.3(ALDH5A1):c.377A>G (p.Lys126Arg) rs1759219662
NM_001080.3(ALDH5A1):c.410A>T (p.Asp137Val) rs2127382180
NM_001080.3(ALDH5A1):c.454G>C (p.Glu152Gln)
NM_001080.3(ALDH5A1):c.460C>T (p.His154Tyr) rs2127382406
NM_001080.3(ALDH5A1):c.464G>A (p.Gly155Glu) rs1554136421
NM_001080.3(ALDH5A1):c.479C>T (p.Ser160Phe)
NM_001080.3(ALDH5A1):c.518G>C (p.Arg173Pro)
NM_001080.3(ALDH5A1):c.518G>T (p.Arg173Leu) rs369366567
NM_001080.3(ALDH5A1):c.523T>C (p.Tyr175His)
NM_001080.3(ALDH5A1):c.535A>G (p.Ile179Val) rs1759245914
NM_001080.3(ALDH5A1):c.539A>G (p.His180Arg)
NM_001080.3(ALDH5A1):c.544_545delinsGT (p.Pro182Val) rs2127382457
NM_001080.3(ALDH5A1):c.562G>A (p.Ala188Thr) rs1287321413
NM_001080.3(ALDH5A1):c.610-17T>A
NM_001080.3(ALDH5A1):c.625G>A (p.Ala209Thr)
NM_001080.3(ALDH5A1):c.637C>T (p.Arg213Trp)
NM_001080.3(ALDH5A1):c.638G>A (p.Arg213Gln)
NM_001080.3(ALDH5A1):c.643G>A (p.Val215Met)
NM_001080.3(ALDH5A1):c.671C>A (p.Thr224Asn) rs2127382947
NM_001080.3(ALDH5A1):c.676G>C (p.Val226Leu)
NM_001080.3(ALDH5A1):c.676G>T (p.Val226Leu) rs770884090
NM_001080.3(ALDH5A1):c.685C>A (p.Pro229Thr)
NM_001080.3(ALDH5A1):c.718C>G (p.Leu240Val) rs1759310167
NM_001080.3(ALDH5A1):c.726+7_726+8delinsAA
NM_001080.3(ALDH5A1):c.758T>C (p.Val253Ala) rs1201676111
NM_001080.3(ALDH5A1):c.760T>C (p.Tyr254His) rs2127385849
NM_001080.3(ALDH5A1):c.761A>G (p.Tyr254Cys) rs749228768
NM_001080.3(ALDH5A1):c.763A>C (p.Asn255His) rs2127385854
NM_001080.3(ALDH5A1):c.782G>A (p.Arg261Gln) rs772361710
NM_001080.3(ALDH5A1):c.799G>T (p.Val267Leu) rs1759546145
NM_001080.3(ALDH5A1):c.820G>C (p.Asp274His)
NM_001080.3(ALDH5A1):c.826C>G (p.Leu276Val)
NM_001080.3(ALDH5A1):c.844T>G (p.Phe282Val) rs2127385891
NM_001080.3(ALDH5A1):c.870+4T>A rs1447034711
NM_001080.3(ALDH5A1):c.881A>C (p.His294Pro) rs771163119
NM_001080.3(ALDH5A1):c.896C>A (p.Ser299Tyr) rs2127387282
NM_001080.3(ALDH5A1):c.913A>G (p.Met305Val)
NM_001080.3(ALDH5A1):c.929T>G (p.Leu310Arg)
NM_001080.3(ALDH5A1):c.932C>G (p.Ala311Gly) rs752467613
NM_001080.3(ALDH5A1):c.934C>G (p.Pro312Ala)
NM_001080.3(ALDH5A1):c.943G>A (p.Val315Ile)
NM_001080.3(ALDH5A1):c.948T>G (p.Phe316Leu) rs1172837609
NM_001080.3(ALDH5A1):c.959A>G (p.Asn320Ser) rs570262377
NM_001080.3(ALDH5A1):c.971C>T (p.Ala324Val) rs1759659944
NM_001080.3(ALDH5A1):c.983C>T (p.Ala328Val) rs1043375819
NM_001080.3(ALDH5A1):c.985A>G (p.Met329Val) rs1581818516

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.