ClinVar Miner

List of variants in gene ALDH4A1 reported as benign 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: 36
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HGVS dbSNP
NM_003748.4(ALDH4A1):c.*118G>A rs11740
NM_003748.4(ALDH4A1):c.*1198A>G rs7366541
NM_003748.4(ALDH4A1):c.*1239G>C rs1138328
NM_003748.4(ALDH4A1):c.*1275A>C rs1138333
NM_003748.4(ALDH4A1):c.*444T>C rs9117
NM_003748.4(ALDH4A1):c.*502A>G rs1802783
NM_003748.4(ALDH4A1):c.*702C>T rs3202002
NM_003748.4(ALDH4A1):c.*712C>T rs14311
NM_003748.4(ALDH4A1):c.*763T>C rs1138267
NM_003748.4(ALDH4A1):c.*921G>A rs1138269
NM_003748.4(ALDH4A1):c.*925C>T rs1140477
NM_003748.4(ALDH4A1):c.1050G>C (p.Ala350=) rs2230705
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg) rs145243354
NM_003748.4(ALDH4A1):c.1086G>A (p.Pro362=) rs41310410
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.1162T>C (p.Phe388Leu) rs41273175
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.1251C>T (p.Ala417=) rs2230707
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=) rs147154947
NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=) rs2230708
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.1548C>T (p.Gly516=) rs61749348
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) rs61757683
NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu) rs72953172
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.413C>T (p.Pro138Leu) rs139640415
NM_003748.4(ALDH4A1):c.433G>A (p.Ala145Thr) rs113846237
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu) rs146450609
NM_003748.4(ALDH4A1):c.584C>T (p.Thr195Met) rs72936434
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=) rs139340058
NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=) rs60427141

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