ClinVar Miner

List of variants in gene ALDH4A1 studied for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 123
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_19199319)_(19204126_?)dup
NM_003748.4(ALDH4A1):c.*1040C>T
NM_003748.4(ALDH4A1):c.*1041G>A
NM_003748.4(ALDH4A1):c.*1152G>T rs886045702
NM_003748.4(ALDH4A1):c.*1173C>T rs115664776
NM_003748.4(ALDH4A1):c.*1182G>C
NM_003748.4(ALDH4A1):c.*118G>A rs11740
NM_003748.4(ALDH4A1):c.*1197C>G rs7419135
NM_003748.4(ALDH4A1):c.*1198A>G rs7366541
NM_003748.4(ALDH4A1):c.*1199A>C rs886045701
NM_003748.4(ALDH4A1):c.*122T>C rs2230712
NM_003748.4(ALDH4A1):c.*1239G>C rs1138328
NM_003748.4(ALDH4A1):c.*1275A>C rs1138333
NM_003748.4(ALDH4A1):c.*189G>A rs11484737
NM_003748.4(ALDH4A1):c.*19C>T
NM_003748.4(ALDH4A1):c.*210C>A rs886045705
NM_003748.4(ALDH4A1):c.*223G>A rs553318512
NM_003748.4(ALDH4A1):c.*272C>T rs41273171
NM_003748.4(ALDH4A1):c.*35C>T rs2230710
NM_003748.4(ALDH4A1):c.*367C>T
NM_003748.4(ALDH4A1):c.*444T>C rs9117
NM_003748.4(ALDH4A1):c.*464G>A rs536186688
NM_003748.4(ALDH4A1):c.*502A>G rs1802783
NM_003748.4(ALDH4A1):c.*646G>A rs567528405
NM_003748.4(ALDH4A1):c.*690G>A rs886045704
NM_003748.4(ALDH4A1):c.*702C>T rs3202002
NM_003748.4(ALDH4A1):c.*711C>G
NM_003748.4(ALDH4A1):c.*712C>T rs14311
NM_003748.4(ALDH4A1):c.*719C>T rs778905588
NM_003748.4(ALDH4A1):c.*763T>C rs1138267
NM_003748.4(ALDH4A1):c.*776C>T
NM_003748.4(ALDH4A1):c.*900G>C
NM_003748.4(ALDH4A1):c.*903C>T rs148846466
NM_003748.4(ALDH4A1):c.*921G>A rs1138269
NM_003748.4(ALDH4A1):c.*925C>T rs1140477
NM_003748.4(ALDH4A1):c.*944C>T rs886045703
NM_003748.4(ALDH4A1):c.*9C>T rs138534161
NM_003748.4(ALDH4A1):c.-24G>A rs886045707
NM_003748.4(ALDH4A1):c.-26G>T rs536547354
NM_003748.4(ALDH4A1):c.-4C>A rs9426797
NM_003748.4(ALDH4A1):c.-7A>G rs9426679
NM_003748.4(ALDH4A1):c.102C>T (p.Asn34=) rs148778436
NM_003748.4(ALDH4A1):c.1050G>C (p.Ala350=) rs2230705
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu) rs137852937
NM_003748.4(ALDH4A1):c.1070C>T (p.Pro357Leu)
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg) rs145243354
NM_003748.4(ALDH4A1):c.1082G>C (p.Trp361Ser) rs763793413
NM_003748.4(ALDH4A1):c.1086G>A (p.Pro362=) rs41310410
NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=) rs41310410
NM_003748.4(ALDH4A1):c.108C>T (p.Pro36=) rs768297819
NM_003748.4(ALDH4A1):c.1093A>C (p.Lys365Gln) rs770756077
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg) rs41306567
NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=) rs147471420
NM_003748.4(ALDH4A1):c.1099C>T (p.Arg367Trp)
NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu) rs41273175
NM_003748.4(ALDH4A1):c.1185+10G>A
NM_003748.4(ALDH4A1):c.1186-11G>A
NM_003748.4(ALDH4A1):c.1195C>T (p.Arg399Cys)
NM_003748.4(ALDH4A1):c.1196G>A (p.Arg399His)
NM_003748.4(ALDH4A1):c.1212G>A (p.Leu404=)
NM_003748.4(ALDH4A1):c.1218C>T (p.His406=) rs111291014
NM_003748.4(ALDH4A1):c.1221A>G (p.Ala407=) rs2230706
NM_003748.4(ALDH4A1):c.1230A>G (p.Ser410=) rs7550938
NM_003748.4(ALDH4A1):c.1236C>G (p.Ser412Arg) rs201762741
NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=) rs2230707
NM_003748.4(ALDH4A1):c.1252G>C (p.Gly418Arg) rs148586081
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg) rs149414160
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=) rs147154947
NM_003748.4(ALDH4A1):c.1369G>A (p.Val457Ile) rs199828375
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=) rs146222625
NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=) rs2230708
NM_003748.4(ALDH4A1):c.1381G>A (p.Asp461Asn) rs377270740
NM_003748.4(ALDH4A1):c.1385A>C (p.Lys462Thr) rs150762865
NM_003748.4(ALDH4A1):c.1408G>A (p.Val470Ile) rs2230709
NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala) rs6695033
NM_003748.4(ALDH4A1):c.1439G>A (p.Gly480Glu) rs762708368
NM_003748.4(ALDH4A1):c.1460+15C>T
NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=)
NM_003748.4(ALDH4A1):c.1548C>T (p.Gly516=) rs61749348
NM_003748.4(ALDH4A1):c.1560dup (p.Gly521fs) rs779536510
NM_003748.4(ALDH4A1):c.157-14G>A
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)
NM_003748.4(ALDH4A1):c.1580-5C>T
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) rs61757683
NM_003748.4(ALDH4A1):c.1624A>G (p.Thr542Ala)
NM_003748.4(ALDH4A1):c.1625C>T (p.Thr542Met) rs771061582
NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu) rs72953172
NM_003748.4(ALDH4A1):c.1632G>A (p.Pro544=)
NM_003748.4(ALDH4A1):c.1678G>A (p.Ala560Thr)
NM_003748.4(ALDH4A1):c.1681T>A (p.Tyr561Asn) rs528211463
NM_003748.4(ALDH4A1):c.16C>T (p.Pro6Ser)
NM_003748.4(ALDH4A1):c.198C>T (p.Cys66=)
NM_003748.4(ALDH4A1):c.21del (p.Leu8fs) rs387906314
NM_003748.4(ALDH4A1):c.225G>A (p.Thr75=) rs79920636
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=) rs145686117
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met) rs76762510
NM_003748.4(ALDH4A1):c.250-6T>A
NM_003748.4(ALDH4A1):c.298-14C>T
NM_003748.4(ALDH4A1):c.298-1G>C rs1557620472
NM_003748.4(ALDH4A1):c.337C>T (p.Arg113Trp) rs142923662
NM_003748.4(ALDH4A1):c.362T>C (p.Ile121Thr)
NM_003748.4(ALDH4A1):c.369C>G (p.Asp123Glu) rs147600006
NM_003748.4(ALDH4A1):c.381C>G (p.Ile127Met)
NM_003748.4(ALDH4A1):c.397G>T (p.Asp133Tyr)
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu) rs139640415
NM_003748.4(ALDH4A1):c.421G>A (p.Ala141Thr) rs377259750
NM_003748.4(ALDH4A1):c.433G>A (p.Ala145Thr) rs113846237
NM_003748.4(ALDH4A1):c.446T>A (p.Val149Glu) rs886045706
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu) rs146450609
NM_003748.4(ALDH4A1):c.487G>A (p.Ala163Thr) rs201780333
NM_003748.4(ALDH4A1):c.490G>C (p.Ala164Pro) rs369957092
NM_003748.4(ALDH4A1):c.584C>T (p.Thr195Met) rs72936434
NM_003748.4(ALDH4A1):c.59C>A (p.Ala20Asp)
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=) rs139340058
NM_003748.4(ALDH4A1):c.678+3G>A rs138788183
NM_003748.4(ALDH4A1):c.698A>G (p.Lys233Arg)
NM_003748.4(ALDH4A1):c.740G>T (p.Arg247Leu)
NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=) rs60427141
NM_003748.4(ALDH4A1):c.800C>A (p.Pro267His) rs141843191
NM_003748.4(ALDH4A1):c.842G>T (p.Gly281Val)
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707
NM_003748.4(ALDH4A1):c.876A>G (p.Lys292=)
NM_003748.4(ALDH4A1):c.974G>A (p.Arg325His)

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.