ClinVar Miner

List of variants reported as likely benign for Succinate-semialdehyde dehydrogenase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 264
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val) rs185042766 0.00257
NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile) rs147358733 0.00105
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val) rs200398000 0.00096
NM_001080.3(ALDH5A1):c.354+14G>A rs572861590 0.00091
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly) rs535825137 0.00076
NM_001080.3(ALDH5A1):c.1421A>C (p.Asp474Ala) rs142482046 0.00060
NM_001080.3(ALDH5A1):c.183C>G (p.Thr61=) rs776791710 0.00057
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=) rs148188703 0.00047
NM_001080.3(ALDH5A1):c.355-9C>G rs375453445 0.00045
NM_001080.3(ALDH5A1):c.605C>T (p.Thr202Ile) rs148733464 0.00043
NM_001080.3(ALDH5A1):c.1474G>A (p.Val492Ile) rs151294087 0.00032
NM_001080.3(ALDH5A1):c.175C>T (p.Leu59=) rs907112605 0.00032
NM_001080.3(ALDH5A1):c.542C>T (p.Thr181Ile) rs147439442 0.00026
NM_001080.3(ALDH5A1):c.1344-6T>C rs368212282 0.00020
NM_001080.3(ALDH5A1):c.684G>A (p.Lys228=) rs200484487 0.00019
NM_001080.3(ALDH5A1):c.831G>A (p.Val277=) rs138912422 0.00019
NM_001080.3(ALDH5A1):c.1014+8C>T rs368394825 0.00016
NM_001080.3(ALDH5A1):c.1080C>T (p.Phe360=) rs571602201 0.00016
NM_001080.3(ALDH5A1):c.62G>A (p.Gly21Asp) rs371923295 0.00014
NM_001080.3(ALDH5A1):c.859A>G (p.Thr287Ala) rs369156704 0.00013
NM_001080.3(ALDH5A1):c.738G>A (p.Gln246=) rs372881980 0.00010
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala) rs373320785 0.00010
NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu) rs373315916 0.00009
NM_001080.3(ALDH5A1):c.727-13T>G rs187404409 0.00009
NM_001080.3(ALDH5A1):c.1134T>C (p.Thr378=) rs1258501471 0.00006
NM_001080.3(ALDH5A1):c.1211C>G (p.Ala404Gly) rs139719918 0.00006
NM_001080.3(ALDH5A1):c.1353A>C (p.Thr451=) rs146549665 0.00006
NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=) rs372455508 0.00006
NM_001080.3(ALDH5A1):c.188G>T (p.Ser63Ile) rs374908367 0.00005
NM_001080.3(ALDH5A1):c.354+13G>C rs779886253 0.00005
NM_001080.3(ALDH5A1):c.1343+20G>A rs374536399 0.00004
NM_001080.3(ALDH5A1):c.1403-20G>A rs201826601 0.00004
NM_001080.3(ALDH5A1):c.1428C>T (p.Ala476=) rs1003592170 0.00004
NM_001080.3(ALDH5A1):c.1530C>T (p.Ser510=) rs780090048 0.00004
NM_001080.3(ALDH5A1):c.1539G>A (p.Gly513=) rs778867668 0.00004
NM_001080.3(ALDH5A1):c.1596C>T (p.Tyr532=) rs370544116 0.00004
NM_001080.3(ALDH5A1):c.22C>T (p.Arg8Trp) rs767601869 0.00004
NM_001080.3(ALDH5A1):c.606C>A (p.Thr202=) rs375585467 0.00004
NM_001080.3(ALDH5A1):c.924C>T (p.Gly308=) rs188108571 0.00004
NM_001080.3(ALDH5A1):c.1014+13G>C rs201217389 0.00003
NM_001080.3(ALDH5A1):c.1173+8dup rs770822292 0.00003
NM_001080.3(ALDH5A1):c.1174-10C>T rs754181566 0.00003
NM_001080.3(ALDH5A1):c.1314G>A (p.Glu438=) rs1471758596 0.00003
NM_001080.3(ALDH5A1):c.1374C>T (p.Ile458=) rs775722631 0.00003
NM_001080.3(ALDH5A1):c.162C>T (p.Leu54=) rs760612467 0.00003
NM_001080.3(ALDH5A1):c.355-4G>C rs775932045 0.00003
NM_001080.3(ALDH5A1):c.490C>T (p.Leu164=) rs749451380 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.696C>T (p.Asp232=) rs145883639 0.00003
NM_001080.3(ALDH5A1):c.1014+7C>A rs1759660737 0.00002
NM_001080.3(ALDH5A1):c.1173+12G>A rs1178556679 0.00002
NM_001080.3(ALDH5A1):c.1173+18T>C rs775059292 0.00002
NM_001080.3(ALDH5A1):c.1188G>A (p.Val396=) rs534575798 0.00002
NM_001080.3(ALDH5A1):c.1299G>C (p.Leu433=) rs781629841 0.00002
NM_001080.3(ALDH5A1):c.1320C>T (p.Phe440=) rs771829991 0.00002
NM_001080.3(ALDH5A1):c.1343+8C>T rs775916984 0.00002
NM_001080.3(ALDH5A1):c.1347C>T (p.Phe449=) rs192771358 0.00002
NM_001080.3(ALDH5A1):c.1506C>T (p.Cys502=) rs200605419 0.00002
NM_001080.3(ALDH5A1):c.318C>T (p.Tyr106=) rs985818920 0.00002
NM_001080.3(ALDH5A1):c.51G>A (p.Ser17=) rs756763728 0.00002
NM_001080.3(ALDH5A1):c.609+9C>G rs369980939 0.00002
NM_001080.3(ALDH5A1):c.690C>T (p.Ala230=) rs544724128 0.00002
NM_001080.3(ALDH5A1):c.708C>T (p.Ser236=) rs771725195 0.00002
NM_001080.3(ALDH5A1):c.726+7C>T rs376318673 0.00002
NM_001080.3(ALDH5A1):c.75C>T (p.Arg25=) rs755799999 0.00002
NM_001080.3(ALDH5A1):c.871-13C>T rs778951931 0.00002
NM_001080.3(ALDH5A1):c.960C>T (p.Asn320=) rs781439143 0.00002
NM_001080.3(ALDH5A1):c.1083C>T (p.Ala361=) rs111525061 0.00001
NM_001080.3(ALDH5A1):c.1102C>T (p.Leu368=) rs767434033 0.00001
NM_001080.3(ALDH5A1):c.1174-9A>C rs370984312 0.00001
NM_001080.3(ALDH5A1):c.1197C>T (p.Ala399=) rs747534238 0.00001
NM_001080.3(ALDH5A1):c.1216G>A (p.Val406Ile) rs143741652 0.00001
NM_001080.3(ALDH5A1):c.1403-17_1403-15dup rs1454619327 0.00001
NM_001080.3(ALDH5A1):c.1403-18C>A rs757181768 0.00001
NM_001080.3(ALDH5A1):c.141C>T (p.Tyr47=) rs1182147990 0.00001
NM_001080.3(ALDH5A1):c.1473C>T (p.Gly491=) rs369192820 0.00001
NM_001080.3(ALDH5A1):c.147G>T (p.Gly49=) rs1262777866 0.00001
NM_001080.3(ALDH5A1):c.186C>T (p.Asp62=) rs1346879524 0.00001
NM_001080.3(ALDH5A1):c.213G>A (p.Pro71=) rs1220581277 0.00001
NM_001080.3(ALDH5A1):c.219C>A (p.Ala73=) rs1200016885 0.00001
NM_001080.3(ALDH5A1):c.21G>A (p.Leu7=) rs762014234 0.00001
NM_001080.3(ALDH5A1):c.231C>G (p.Pro77=) rs1160948222 0.00001
NM_001080.3(ALDH5A1):c.258T>C (p.Ala86=) rs1225985397 0.00001
NM_001080.3(ALDH5A1):c.291G>A (p.Glu97=) rs973569793 0.00001
NM_001080.3(ALDH5A1):c.354+7G>A rs1171725478 0.00001
NM_001080.3(ALDH5A1):c.432T>C (p.Ala144=) rs746895751 0.00001
NM_001080.3(ALDH5A1):c.439-7A>G rs1437395260 0.00001
NM_001080.3(ALDH5A1):c.54G>A (p.Thr18=) rs1254730579 0.00001
NM_001080.3(ALDH5A1):c.603C>A (p.Ile201=) rs145003796 0.00001
NM_001080.3(ALDH5A1):c.615T>C (p.Asn205=) rs1759307160 0.00001
NM_001080.3(ALDH5A1):c.711C>T (p.Ala237=) rs893040301 0.00001
NM_001080.3(ALDH5A1):c.783A>G (p.Arg261=) rs761068786 0.00001
NM_001080.3(ALDH5A1):c.885C>T (p.His295=) rs367554353 0.00001
NM_001080.3(ALDH5A1):c.978A>T (p.Ala326=) rs1234197652 0.00001
NM_001080.3(ALDH5A1):c.1008T>C (p.Thr336=) rs375086516
NM_001080.3(ALDH5A1):c.1014+12A>G rs2127387325
NM_001080.3(ALDH5A1):c.1014+7C>G
NM_001080.3(ALDH5A1):c.1015-12T>C
NM_001080.3(ALDH5A1):c.1015-13G>C
NM_001080.3(ALDH5A1):c.1015-14T>G
NM_001080.3(ALDH5A1):c.1015-19G>A rs1462649062
NM_001080.3(ALDH5A1):c.102C>G (p.Ala34=) rs779034609
NM_001080.3(ALDH5A1):c.105C>T (p.Ser35=)
NM_001080.3(ALDH5A1):c.1071A>G (p.Val357=) rs2127387956
NM_001080.3(ALDH5A1):c.1083C>A (p.Ala361=) rs111525061
NM_001080.3(ALDH5A1):c.108G>A (p.Gly36=)
NM_001080.3(ALDH5A1):c.1104G>A (p.Leu368=)
NM_001080.3(ALDH5A1):c.1116T>C (p.Asn372=)
NM_001080.3(ALDH5A1):c.1140G>A (p.Gln380=) rs1759725179
NM_001080.3(ALDH5A1):c.1164G>A (p.Ala388=) rs553384589
NM_001080.3(ALDH5A1):c.1164G>C (p.Ala388=) rs553384589
NM_001080.3(ALDH5A1):c.1164G>T (p.Ala388=) rs553384589
NM_001080.3(ALDH5A1):c.1173+10T>C
NM_001080.3(ALDH5A1):c.1173+13T>C
NM_001080.3(ALDH5A1):c.1174-16C>T rs1402795545
NM_001080.3(ALDH5A1):c.1174-7T>C rs999796055
NM_001080.3(ALDH5A1):c.1176G>A (p.Val392=)
NM_001080.3(ALDH5A1):c.117C>G (p.Pro39=) rs1261800997
NM_001080.3(ALDH5A1):c.117C>T (p.Pro39=) rs1261800997
NM_001080.3(ALDH5A1):c.120C>A (p.Gly40=)
NM_001080.3(ALDH5A1):c.120C>G (p.Gly40=)
NM_001080.3(ALDH5A1):c.1215C>T (p.Thr405=)
NM_001080.3(ALDH5A1):c.123G>A (p.Pro41=) rs886042931
NM_001080.3(ALDH5A1):c.1269C>T (p.Thr423=) rs1581824153
NM_001080.3(ALDH5A1):c.126C>T (p.Ala42=) rs944589315
NM_001080.3(ALDH5A1):c.1272G>A (p.Leu424=)
NM_001080.3(ALDH5A1):c.1273C>T (p.Leu425=)
NM_001080.3(ALDH5A1):c.12C>T (p.Cys4=)
NM_001080.3(ALDH5A1):c.1308T>C (p.His436=) rs199500997
NM_001080.3(ALDH5A1):c.1335A>G (p.Pro445=) rs1401944994
NM_001080.3(ALDH5A1):c.1335A>T (p.Pro445=)
NM_001080.3(ALDH5A1):c.1338T>G (p.Val446=) rs2127389573
NM_001080.3(ALDH5A1):c.1343+11C>T
NM_001080.3(ALDH5A1):c.1343+15C>T rs2127389592
NM_001080.3(ALDH5A1):c.1343+19C>G
NM_001080.3(ALDH5A1):c.1343+19C>T
NM_001080.3(ALDH5A1):c.1343+20G>T
NM_001080.3(ALDH5A1):c.1343+8C>A rs775916984
NM_001080.3(ALDH5A1):c.1344-4G>A
NM_001080.3(ALDH5A1):c.1344-7T>C
NM_001080.3(ALDH5A1):c.1380C>T (p.Asn460=) rs1191466061
NM_001080.3(ALDH5A1):c.138C>T (p.Cys46=) rs1248918160
NM_001080.3(ALDH5A1):c.1398A>G (p.Leu466=) rs1554138222
NM_001080.3(ALDH5A1):c.1402+13C>T
NM_001080.3(ALDH5A1):c.1403-10C>G
NM_001080.3(ALDH5A1):c.1403-11T>C
NM_001080.3(ALDH5A1):c.1403-16T>A
NM_001080.3(ALDH5A1):c.1403-6T>C
NM_001080.3(ALDH5A1):c.1428C>A (p.Ala476=)
NM_001080.3(ALDH5A1):c.1488A>G (p.Leu496=) rs2127391197
NM_001080.3(ALDH5A1):c.1515T>G (p.Gly505=) rs2127391207
NM_001080.3(ALDH5A1):c.1518A>T (p.Gly506=)
NM_001080.3(ALDH5A1):c.153G>C (p.Leu51=)
NM_001080.3(ALDH5A1):c.1551C>A (p.Ser517=)
NM_001080.3(ALDH5A1):c.1569G>A (p.Glu523=) rs2127391231
NM_001080.3(ALDH5A1):c.156G>C (p.Ala52=)
NM_001080.3(ALDH5A1):c.156G>T (p.Ala52=)
NM_001080.3(ALDH5A1):c.1590G>C (p.Val530=)
NM_001080.3(ALDH5A1):c.168G>C (p.Ala56=) rs371548862
NM_001080.3(ALDH5A1):c.172C>T (p.Leu58=)
NM_001080.3(ALDH5A1):c.180C>T (p.Arg60=)
NM_001080.3(ALDH5A1):c.183C>A (p.Thr61=) rs776791710
NM_001080.3(ALDH5A1):c.183C>T (p.Thr61=)
NM_001080.3(ALDH5A1):c.210C>T (p.Leu70=)
NM_001080.3(ALDH5A1):c.216C>T (p.Ala72=)
NM_001080.3(ALDH5A1):c.219C>T (p.Ala73=)
NM_001080.3(ALDH5A1):c.225C>A (p.Thr75=)
NM_001080.3(ALDH5A1):c.225C>T (p.Thr75=) rs1581800805
NM_001080.3(ALDH5A1):c.243G>C (p.Pro81=)
NM_001080.3(ALDH5A1):c.24G>C (p.Arg8=)
NM_001080.3(ALDH5A1):c.24G>T (p.Arg8=) rs1427888209
NM_001080.3(ALDH5A1):c.264C>A (p.Gly88=) rs759932020
NM_001080.3(ALDH5A1):c.264C>T (p.Gly88=) rs759932020
NM_001080.3(ALDH5A1):c.270A>T (p.Val90=) rs2127379071
NM_001080.3(ALDH5A1):c.273C>G (p.Ala91=) rs1206650969
NM_001080.3(ALDH5A1):c.282G>C (p.Gly94=)
NM_001080.3(ALDH5A1):c.288A>G (p.Arg96=) rs1554135737
NM_001080.3(ALDH5A1):c.297C>T (p.Arg99=) rs1764673975
NM_001080.3(ALDH5A1):c.300C>T (p.Ala100=)
NM_001080.3(ALDH5A1):c.303C>T (p.Ala101=) rs764445443
NM_001080.3(ALDH5A1):c.306G>T (p.Val102=)
NM_001080.3(ALDH5A1):c.309C>G (p.Arg103=)
NM_001080.3(ALDH5A1):c.324T>C (p.Ala108=)
NM_001080.3(ALDH5A1):c.333C>T (p.Arg111=)
NM_001080.3(ALDH5A1):c.342G>A (p.Glu114=)
NM_001080.3(ALDH5A1):c.345C>G (p.Val115=)
NM_001080.3(ALDH5A1):c.354+11C>G
NM_001080.3(ALDH5A1):c.354+11C>T
NM_001080.3(ALDH5A1):c.354+13G>T
NM_001080.3(ALDH5A1):c.354+16T>G rs928290089
NM_001080.3(ALDH5A1):c.354+18C>T
NM_001080.3(ALDH5A1):c.354+19A>G
NM_001080.3(ALDH5A1):c.354+23_354+24dup
NM_001080.3(ALDH5A1):c.354+3GA[2] rs1554135757
NM_001080.3(ALDH5A1):c.355-16G>A
NM_001080.3(ALDH5A1):c.355-18T>A
NM_001080.3(ALDH5A1):c.355-18T>C
NM_001080.3(ALDH5A1):c.355-18T>G
NM_001080.3(ALDH5A1):c.355-19C>T
NM_001080.3(ALDH5A1):c.355-20C>T
NM_001080.3(ALDH5A1):c.355-6T>C rs1759214273
NM_001080.3(ALDH5A1):c.366A>G (p.Ser122=)
NM_001080.3(ALDH5A1):c.367T>C (p.Leu123=) rs1361924610
NM_001080.3(ALDH5A1):c.375G>A (p.Arg125=)
NM_001080.3(ALDH5A1):c.375G>C (p.Arg125=)
NM_001080.3(ALDH5A1):c.388T>C (p.Leu130=)
NM_001080.3(ALDH5A1):c.396A>T (p.Ile132=)
NM_001080.3(ALDH5A1):c.402T>C (p.Asn134=) rs777804457
NM_001080.3(ALDH5A1):c.42C>T (p.Arg14=) rs2127378795
NM_001080.3(ALDH5A1):c.438+11G>A
NM_001080.3(ALDH5A1):c.438+18G>A
NM_001080.3(ALDH5A1):c.439-11A>G rs2127382395
NM_001080.3(ALDH5A1):c.439-13T>C
NM_001080.3(ALDH5A1):c.439-18T>C
NM_001080.3(ALDH5A1):c.439-19C>A
NM_001080.3(ALDH5A1):c.474C>G (p.Leu158=)
NM_001080.3(ALDH5A1):c.483C>A (p.Ala161=)
NM_001080.3(ALDH5A1):c.534T>A (p.Ile178=) rs2127382448
NM_001080.3(ALDH5A1):c.546G>A (p.Pro182=) rs779987239
NM_001080.3(ALDH5A1):c.54G>T (p.Thr18=) rs1254730579
NM_001080.3(ALDH5A1):c.564C>T (p.Ala188=)
NM_001080.3(ALDH5A1):c.565C>T (p.Leu189=) rs1064796918
NM_001080.3(ALDH5A1):c.567G>C (p.Leu189=)
NM_001080.3(ALDH5A1):c.588C>T (p.Gly196=) rs145208127
NM_001080.3(ALDH5A1):c.609+15C>T rs1759252599
NM_001080.3(ALDH5A1):c.609+20A>G rs1759252699
NM_001080.3(ALDH5A1):c.60A>G (p.Pro20=)
NM_001080.3(ALDH5A1):c.610-12T>C
NM_001080.3(ALDH5A1):c.610-13C>T
NM_001080.3(ALDH5A1):c.610-4C>G
NM_001080.3(ALDH5A1):c.63C>G (p.Gly21=)
NM_001080.3(ALDH5A1):c.663C>A (p.Ala221=) rs760461822
NM_001080.3(ALDH5A1):c.672T>C (p.Thr224=)
NM_001080.3(ALDH5A1):c.678G>A (p.Val226=) rs113591366
NM_001080.3(ALDH5A1):c.699G>A (p.Thr233=)
NM_001080.3(ALDH5A1):c.702C>T (p.Pro234=) rs934316238
NM_001080.3(ALDH5A1):c.726+11C>G
NM_001080.3(ALDH5A1):c.726+17G>T
NM_001080.3(ALDH5A1):c.726+8_726+9del
NM_001080.3(ALDH5A1):c.727-15_727-14inv
NM_001080.3(ALDH5A1):c.753A>C (p.Ser251=)
NM_001080.3(ALDH5A1):c.756T>G (p.Gly252=)
NM_001080.3(ALDH5A1):c.75C>A (p.Arg25=) rs755799999
NM_001080.3(ALDH5A1):c.768T>C (p.Val256=)
NM_001080.3(ALDH5A1):c.79C>G (p.Arg27Gly) rs779798309
NM_001080.3(ALDH5A1):c.843C>G (p.Ser281=)
NM_001080.3(ALDH5A1):c.852T>C (p.Gly284=)
NM_001080.3(ALDH5A1):c.855A>G (p.Ser285=) rs1759548147
NM_001080.3(ALDH5A1):c.870+15T>C rs2127385913
NM_001080.3(ALDH5A1):c.870+20A>T
NM_001080.3(ALDH5A1):c.870+8A>T
NM_001080.3(ALDH5A1):c.870+9C>T rs1314010241
NM_001080.3(ALDH5A1):c.871-10C>T
NM_001080.3(ALDH5A1):c.871-11T>C
NM_001080.3(ALDH5A1):c.871-19T>C
NM_001080.3(ALDH5A1):c.871-6T>C rs1399527090
NM_001080.3(ALDH5A1):c.87C>T (p.Gly29=) rs1581800500
NM_001080.3(ALDH5A1):c.897T>C (p.Ser299=) rs533586467
NM_001080.3(ALDH5A1):c.921G>C (p.Leu307=)
NM_001080.3(ALDH5A1):c.936A>G (p.Pro312=)
NM_001080.3(ALDH5A1):c.93G>A (p.Leu31=)
NM_001080.3(ALDH5A1):c.93G>T (p.Leu31=) rs920257954
NM_001080.3(ALDH5A1):c.966C>T (p.Asp322=)

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