ClinVar Miner

List of variants in gene ALDH4A1 reported as uncertain significance for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
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Gene type:
ClinVar version:
Total variants: 86
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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.*1197C>G rs7419135
NM_003748.4(ALDH4A1):c.*1199A>C rs886045701
NM_003748.4(ALDH4A1):c.*122T>C rs2230712
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.*367C>T
NM_003748.4(ALDH4A1):c.*464G>A rs536186688
NM_003748.4(ALDH4A1):c.*646G>A rs567528405
NM_003748.4(ALDH4A1):c.*690G>A rs886045704
NM_003748.4(ALDH4A1):c.*711C>G
NM_003748.4(ALDH4A1):c.*719C>T rs778905588
NM_003748.4(ALDH4A1):c.*776C>T
NM_003748.4(ALDH4A1):c.*900G>C
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.102C>T (p.Asn34=) rs148778436
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>C (p.Pro362=) rs41310410
NM_003748.4(ALDH4A1):c.1093A>C (p.Lys365Gln)
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg)
NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=) rs147471420
NM_003748.4(ALDH4A1):c.1099C>T (p.Arg367Trp)
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=)
NM_003748.4(ALDH4A1):c.1236C>G (p.Ser412Arg)
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.1381G>A (p.Asp461Asn) rs377270740
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.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)
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.228G>A (p.Ser76=)
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met)
NM_003748.4(ALDH4A1):c.250-6T>A
NM_003748.4(ALDH4A1):c.298-14C>T
NM_003748.4(ALDH4A1):c.337C>T (p.Arg113Trp)
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.446T>A (p.Val149Glu) rs886045706
NM_003748.4(ALDH4A1):c.487G>A (p.Ala163Thr)
NM_003748.4(ALDH4A1):c.490G>C (p.Ala164Pro) rs369957092
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.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)

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