ClinVar Miner

List of variants in gene ALDH4A1 studied for inborn disorder of amino acid and other organic acid metabolism

Included ClinVar conditions (315):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 236
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HGVS dbSNP gnomAD frequency
NM_003748.4(ALDH4A1):c.249+22A>G rs941495 0.96827
NM_003748.4(ALDH4A1):c.678+75T>C rs6426611 0.96773
NM_003748.4(ALDH4A1):c.1338+39A>G rs7550822 0.91650
NM_003748.4(ALDH4A1):c.941-67T>C rs6426814 0.82332
NM_003748.4(ALDH4A1):c.941-48C>T rs6426813 0.76978
NM_003748.4(ALDH4A1):c.1050G>C (p.Ala350=) rs2230705 0.71986
NM_003748.4(ALDH4A1):c.*763T>C rs1138267 0.65227
NM_003748.4(ALDH4A1):c.1461-137dup rs35163726 0.63623
NM_003748.4(ALDH4A1):c.1230A>G (p.Ser410=) rs7550938 0.63458
NM_003748.4(ALDH4A1):c.1221A>G (p.Ala407=) rs2230706 0.63390
NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=) rs2230707 0.47295
NM_003748.4(ALDH4A1):c.1579+49C>G rs28529092 0.45319
NM_003748.4(ALDH4A1):c.1580-22A>T rs28700162 0.38746
NM_003748.4(ALDH4A1):c.*118G>A rs11740 0.38688
NM_003748.4(ALDH4A1):c.*702C>T rs3202002 0.38569
NM_003748.4(ALDH4A1):c.*712C>T rs14311 0.25638
NM_003748.4(ALDH4A1):c.*1198A>G rs7366541 0.24677
NM_003748.4(ALDH4A1):c.*1275A>C rs1138333 0.24672
NM_003748.4(ALDH4A1):c.*921G>A rs1138269 0.24248
NM_003748.4(ALDH4A1):c.*925C>T rs1140477 0.24236
NM_003748.4(ALDH4A1):c.*1239G>C rs1138328 0.24081
NM_003748.4(ALDH4A1):c.*444T>C rs9117 0.18721
NM_003748.4(ALDH4A1):c.1548C>T (p.Gly516=) rs61749348 0.06385
NM_003748.4(ALDH4A1):c.250-17C>T rs9426718 0.03729
NM_003748.4(ALDH4A1):c.*502A>G rs1802783 0.03425
NM_003748.4(ALDH4A1):c.*35C>T rs2230710 0.02193
NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=) rs60427141 0.01815
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) rs61757683 0.01760
NM_003748.4(ALDH4A1):c.*272C>T rs41273171 0.01547
NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu) rs72953172 0.01344
NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu) rs41273175 0.01334
NM_003748.4(ALDH4A1):c.*903C>T rs148846466 0.01203
NM_003748.4(ALDH4A1):c.584C>T (p.Thr195Met) rs72936434 0.00992
NM_003748.4(ALDH4A1):c.433G>A (p.Ala145Thr) rs113846237 0.00952
NM_003748.4(ALDH4A1):c.*1040C>T rs76525996 0.00915
NM_003748.4(ALDH4A1):c.*1173C>T rs115664776 0.00723
NM_003748.4(ALDH4A1):c.453+19C>T rs201900829 0.00609
NM_003748.4(ALDH4A1):c.678+3G>A rs138788183 0.00516
NM_003748.4(ALDH4A1):c.225G>A (p.Thr75=) rs79920636 0.00496
NM_003748.4(ALDH4A1):c.1218C>T (p.His406=) rs111291014 0.00488
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=) rs139340058 0.00417
NM_003748.4(ALDH4A1):c.*1197C>G rs7419135 0.00402
NM_003748.4(ALDH4A1):c.*122T>C rs2230712 0.00383
NM_003748.4(ALDH4A1):c.453+17C>T rs200675281 0.00367
NM_003748.4(ALDH4A1):c.*711C>G rs543972561 0.00319
NM_003748.4(ALDH4A1):c.1185+10G>A rs201079601 0.00301
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=) rs145686117 0.00250
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu) rs139640415 0.00249
NM_003748.4(ALDH4A1):c.*9C>T rs138534161 0.00217
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met) rs76762510 0.00197
NM_003748.3(ALDH4A1):c.-73C>T rs559524012 0.00174
NM_003748.4(ALDH4A1):c.*189G>A rs11484737 0.00161
NM_003748.4(ALDH4A1):c.298-14C>T rs201072479 0.00149
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg) rs41306567 0.00133
NM_003748.4(ALDH4A1):c.102C>T (p.Asn34=) rs148778436 0.00124
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=) rs147154947 0.00116
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg) rs149414160 0.00089
NM_003748.4(ALDH4A1):c.199G>A (p.Val67Met) rs141327098 0.00070
NM_003748.4(ALDH4A1):c.369C>G (p.Asp123Glu) rs147600006 0.00065
NM_003748.4(ALDH4A1):c.*367C>T rs142571888 0.00063
NM_003748.4(ALDH4A1):c.767C>G (p.Pro256Arg) rs143835001 0.00048
NM_003748.4(ALDH4A1):c.*19C>T rs377545652 0.00046
NM_003748.4(ALDH4A1):c.-26G>T rs536547354 0.00045
NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=) rs147471420 0.00044
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg) rs145243354 0.00034
NM_003748.4(ALDH4A1):c.483C>T (p.Asp161=) rs182240222 0.00028
NM_003748.4(ALDH4A1):c.1137C>T (p.Asp379=) rs140704780 0.00022
NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=) rs201605414 0.00019
NM_003748.4(ALDH4A1):c.1579+11C>T rs367612554 0.00019
NM_003748.4(ALDH4A1):c.*646G>A rs567528405 0.00017
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu) rs137852937 0.00014
NM_003748.4(ALDH4A1):c.1138-20G>A rs574681452 0.00014
NM_003748.4(ALDH4A1):c.*464G>A rs536186688 0.00013
NM_003748.4(ALDH4A1):c.1650A>G (p.Thr550=) rs202214117 0.00013
NM_003748.4(ALDH4A1):c.698A>G (p.Lys233Arg) rs376422570 0.00013
NM_003748.4(ALDH4A1):c.1272C>T (p.Ser424=) rs370707645 0.00011
NM_003748.4(ALDH4A1):c.557T>C (p.Ile186Thr) rs375023861 0.00011
NM_003748.3(ALDH4A1):c.-39G>T rs112566606 0.00010
NM_003748.4(ALDH4A1):c.739C>T (p.Arg247Cys) rs748025331 0.00010
NM_003748.4(ALDH4A1):c.740G>T (p.Arg247Leu) rs558761793 0.00010
NM_003748.4(ALDH4A1):c.-24G>A rs886045707 0.00009
NM_003748.4(ALDH4A1):c.1677C>T (p.Tyr559=) rs531113108 0.00009
NM_003748.4(ALDH4A1):c.487G>A (p.Ala163Thr) rs201780333 0.00009
NM_003748.4(ALDH4A1):c.984C>T (p.Asp328=) rs146741343 0.00009
NM_003748.4(ALDH4A1):c.*719C>T rs778905588 0.00008
NM_003748.4(ALDH4A1):c.179G>A (p.Arg60Gln) rs114609576 0.00007
NM_003748.4(ALDH4A1):c.490G>C (p.Ala164Pro) rs369957092 0.00007
NM_003748.4(ALDH4A1):c.*1182G>C rs956296596 0.00006
NM_003748.4(ALDH4A1):c.*223G>A rs553318512 0.00006
NM_003748.4(ALDH4A1):c.*900G>C rs796989099 0.00006
NM_003748.4(ALDH4A1):c.1082G>C (p.Trp361Ser) rs763793413 0.00006
NM_003748.4(ALDH4A1):c.178C>T (p.Arg60Trp) rs139447728 0.00006
NM_003748.4(ALDH4A1):c.67C>T (p.Arg23Trp) rs778225599 0.00006
NM_003748.4(ALDH4A1):c.*1199A>C rs886045701 0.00005
NM_003748.4(ALDH4A1):c.1252G>C (p.Gly418Arg) rs148586081 0.00005
NM_003748.4(ALDH4A1):c.421G>A (p.Ala141Thr) rs377259750 0.00005
NM_003748.4(ALDH4A1):c.*944C>T rs886045703 0.00004
NM_003748.4(ALDH4A1):c.1186-11G>A rs375847104 0.00004
NM_003748.4(ALDH4A1):c.381C>G (p.Ile127Met) rs147348663 0.00004
NM_003748.4(ALDH4A1):c.454-18C>T rs557911088 0.00004
NM_003748.4(ALDH4A1):c.462C>T (p.Thr154=) rs372535998 0.00004
NM_003748.3(ALDH4A1):c.-65G>C rs878956441 0.00003
NM_003748.4(ALDH4A1):c.1467C>G (p.Val489=) rs377587520 0.00003
NM_003748.4(ALDH4A1):c.1529C>G (p.Ser510Cys) rs760227262 0.00003
NM_003748.4(ALDH4A1):c.1625C>T (p.Thr542Met) rs771061582 0.00003
NM_003748.4(ALDH4A1):c.432C>T (p.Leu144=) rs781234955 0.00003
NM_003748.4(ALDH4A1):c.569C>T (p.Pro190Leu) rs757819366 0.00003
NM_003748.4(ALDH4A1):c.624G>A (p.Ser208=) rs142063145 0.00003
NM_003748.3(ALDH4A1):c.-37C>A rs886045708 0.00002
NM_003748.4(ALDH4A1):c.1195C>T (p.Arg399Cys) rs138308070 0.00002
NM_003748.4(ALDH4A1):c.1632G>A (p.Pro544=) rs759926379 0.00002
NM_003748.4(ALDH4A1):c.361A>G (p.Ile121Val) rs779876883 0.00002
NM_003748.4(ALDH4A1):c.415C>T (p.Arg139Cys) rs942019101 0.00002
NM_003748.4(ALDH4A1):c.492G>A (p.Ala164=) rs757586223 0.00002
NM_003748.4(ALDH4A1):c.679-6G>A rs369992538 0.00002
NM_003748.4(ALDH4A1):c.749G>A (p.Arg250Gln) rs758064983 0.00002
NM_003748.4(ALDH4A1):c.759C>T (p.Gly253=) rs535815477 0.00002
NM_003748.4(ALDH4A1):c.*1041G>A rs1371841928 0.00001
NM_003748.4(ALDH4A1):c.*1152G>T rs886045702 0.00001
NM_003748.4(ALDH4A1):c.*690G>A rs886045704 0.00001
NM_003748.4(ALDH4A1):c.108C>T (p.Pro36=) rs768297819 0.00001
NM_003748.4(ALDH4A1):c.1137+12C>T rs749404523 0.00001
NM_003748.4(ALDH4A1):c.1138-6C>T rs755890443 0.00001
NM_003748.4(ALDH4A1):c.1185+4C>T rs746106042 0.00001
NM_003748.4(ALDH4A1):c.1240A>G (p.Thr414Ala) rs746859503 0.00001
NM_003748.4(ALDH4A1):c.139C>T (p.Arg47Ter) rs756807746 0.00001
NM_003748.4(ALDH4A1):c.1521C>T (p.Asn507=) rs757085430 0.00001
NM_003748.4(ALDH4A1):c.157-14G>A rs904113931 0.00001
NM_003748.4(ALDH4A1):c.1580-5C>T rs777379037 0.00001
NM_003748.4(ALDH4A1):c.208G>A (p.Asp70Asn) rs1319600530 0.00001
NM_003748.4(ALDH4A1):c.337C>T (p.Arg113Trp) rs142923662 0.00001
NM_003748.4(ALDH4A1):c.338G>A (p.Arg113Gln) rs371321697 0.00001
NM_003748.4(ALDH4A1):c.362T>C (p.Ile121Thr) rs758188756 0.00001
NM_003748.4(ALDH4A1):c.453+20G>T rs1406816149 0.00001
NM_003748.4(ALDH4A1):c.501C>T (p.Ile167=) rs754269597 0.00001
NM_003748.4(ALDH4A1):c.512G>A (p.Arg171Gln) rs767459105 0.00001
NM_003748.4(ALDH4A1):c.531G>A (p.Ala177=) rs138847454 0.00001
NM_003748.4(ALDH4A1):c.593G>A (p.Arg198Gln) rs752816518 0.00001
NM_003748.4(ALDH4A1):c.659C>T (p.Ala220Val) rs199643601 0.00001
NM_003748.4(ALDH4A1):c.874A>C (p.Lys292Gln) rs746880995 0.00001
NM_003748.4(ALDH4A1):c.876A>G (p.Lys292=) rs775591571 0.00001
NM_003748.4(ALDH4A1):c.945C>T (p.Cys315=) rs774448725 0.00001
NM_003748.4(ALDH4A1):c.974G>A (p.Arg325His) rs1272594909 0.00001
NC_000001.10:g.(?_19199339)_(19201095_?)del
NM_003748.3(ALDH4A1):c.-174dup rs551988232
NM_003748.4(ALDH4A1):c.*12del rs774289867
NM_003748.4(ALDH4A1):c.*210C>A rs886045705
NM_003748.4(ALDH4A1):c.*657del rs11311839
NM_003748.4(ALDH4A1):c.*776C>T rs1034579513
NM_003748.4(ALDH4A1):c.1005G>C (p.Gly335=) rs751507625
NM_003748.4(ALDH4A1):c.1005G>T (p.Gly335=)
NM_003748.4(ALDH4A1):c.1023C>T (p.Phe341=) rs769491686
NM_003748.4(ALDH4A1):c.1048G>T (p.Ala350Ser)
NM_003748.4(ALDH4A1):c.1053C>T (p.Cys351=) rs1934758933
NM_003748.4(ALDH4A1):c.105G>A (p.Glu35=)
NM_003748.4(ALDH4A1):c.1060C>T (p.Leu354Phe) rs766376495
NM_003748.4(ALDH4A1):c.1070C>T (p.Pro357Leu) rs758300845
NM_003748.4(ALDH4A1):c.1085C>A (p.Pro362Gln)
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.1093A>C (p.Lys365Gln) rs770756077
NM_003748.4(ALDH4A1):c.1099C>T (p.Arg367Trp) rs562344368
NM_003748.4(ALDH4A1):c.1134C>T (p.Gly378=)
NM_003748.4(ALDH4A1):c.1137+13G>A
NM_003748.4(ALDH4A1):c.1196G>A (p.Arg399His) rs749555399
NM_003748.4(ALDH4A1):c.1212G>A (p.Leu404=) rs1934687903
NM_003748.4(ALDH4A1):c.1219G>T (p.Ala407Ser)
NM_003748.4(ALDH4A1):c.1236C>A (p.Ser412Arg)
NM_003748.4(ALDH4A1):c.1236C>G (p.Ser412Arg) rs201762741
NM_003748.4(ALDH4A1):c.1239C>T (p.Leu413=)
NM_003748.4(ALDH4A1):c.123G>A (p.Thr41=)
NM_003748.4(ALDH4A1):c.1265A>G (p.Asp422Gly)
NM_003748.4(ALDH4A1):c.1281C>T (p.Tyr427=)
NM_003748.4(ALDH4A1):c.1299C>T (p.Ile433=)
NM_003748.4(ALDH4A1):c.1314C>A (p.Asp438Glu) rs1330438587
NM_003748.4(ALDH4A1):c.1338+19C>T
NM_003748.4(ALDH4A1):c.1338+7G>A rs2100555545
NM_003748.4(ALDH4A1):c.1461-109C>T rs6665917
NM_003748.4(ALDH4A1):c.1461-12T>C rs2100551089
NM_003748.4(ALDH4A1):c.1464C>T (p.Asp488=)
NM_003748.4(ALDH4A1):c.1479C>T (p.Ala493=)
NM_003748.4(ALDH4A1):c.1503C>T (p.Ala501=)
NM_003748.4(ALDH4A1):c.1504G>A (p.Gly502Ser) rs766982473
NM_003748.4(ALDH4A1):c.1547G>A (p.Gly516Asp)
NM_003748.4(ALDH4A1):c.1551G>A (p.Gln517=)
NM_003748.4(ALDH4A1):c.156+6G>A
NM_003748.4(ALDH4A1):c.1560dup (p.Gly521fs) rs779536510
NM_003748.4(ALDH4A1):c.1563G>C (p.Gly521=)
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)
NM_003748.4(ALDH4A1):c.1580-16del rs767610565
NM_003748.4(ALDH4A1):c.1596del (p.Gly534fs) rs2100546996
NM_003748.4(ALDH4A1):c.1602C>T (p.Gly534=)
NM_003748.4(ALDH4A1):c.1618C>T (p.Arg540Cys)
NM_003748.4(ALDH4A1):c.1624A>G (p.Thr542Ala) rs1934507704
NM_003748.4(ALDH4A1):c.1641C>T (p.Ile547=)
NM_003748.4(ALDH4A1):c.1674C>T (p.Ser558=)
NM_003748.4(ALDH4A1):c.1678G>A (p.Ala560Thr) rs776207072
NM_003748.4(ALDH4A1):c.1681T>A (p.Tyr561Asn) rs528211463
NM_003748.4(ALDH4A1):c.198C>T (p.Cys66=) rs1469638231
NM_003748.4(ALDH4A1):c.239A>G (p.Tyr80Cys)
NM_003748.4(ALDH4A1):c.240C>G (p.Tyr80Ter)
NM_003748.4(ALDH4A1):c.250-6T>A rs1935208824
NM_003748.4(ALDH4A1):c.298-1G>C rs1557620472
NM_003748.4(ALDH4A1):c.341A>C (p.Lys114Thr) rs1389602525
NM_003748.4(ALDH4A1):c.353T>C (p.Leu118Pro)
NM_003748.4(ALDH4A1):c.363_370dup (p.Arg124fs)
NM_003748.4(ALDH4A1):c.377A>G (p.Gln126Arg) rs1935165464
NM_003748.4(ALDH4A1):c.385C>T (p.Leu129=) rs1371117699
NM_003748.4(ALDH4A1):c.397G>T (p.Asp133Tyr) rs1935164061
NM_003748.4(ALDH4A1):c.414G>A (p.Pro138=)
NM_003748.4(ALDH4A1):c.416G>T (p.Arg139Leu) rs368241243
NM_003748.4(ALDH4A1):c.446T>A (p.Val149Glu) rs886045706
NM_003748.4(ALDH4A1):c.453+16G>C
NM_003748.4(ALDH4A1):c.454-17G>A
NM_003748.4(ALDH4A1):c.479T>C (p.Ile160Thr)
NM_003748.4(ALDH4A1):c.484G>A (p.Ala162Thr)
NM_003748.4(ALDH4A1):c.514T>C (p.Phe172Leu)
NM_003748.4(ALDH4A1):c.561C>T (p.Ser187=)
NM_003748.4(ALDH4A1):c.596G>C (p.Gly199Ala)
NM_003748.4(ALDH4A1):c.615G>C (p.Ala205=)
NM_003748.4(ALDH4A1):c.645C>T (p.Ile215=)
NM_003748.4(ALDH4A1):c.658G>C (p.Ala220Pro) rs778113718
NM_003748.4(ALDH4A1):c.684C>T (p.Asn228=)
NM_003748.4(ALDH4A1):c.693A>G (p.Leu231=) rs775893554
NM_003748.4(ALDH4A1):c.699G>A (p.Lys233=) rs1474346608
NM_003748.4(ALDH4A1):c.712G>A (p.Ala238Thr)
NM_003748.4(ALDH4A1):c.72del (p.Arg23_Trp24insTer) rs2100593635
NM_003748.4(ALDH4A1):c.740G>A (p.Arg247His) rs558761793
NM_003748.4(ALDH4A1):c.800C>A (p.Pro267His) rs141843191
NM_003748.4(ALDH4A1):c.828A>T (p.Ser276=)
NM_003748.4(ALDH4A1):c.842G>T (p.Gly281Val) rs1934975074
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707
NM_003748.4(ALDH4A1):c.88C>T (p.Leu30=)
NM_003748.4(ALDH4A1):c.903C>T (p.Asn301=)
NM_003748.4(ALDH4A1):c.940+16C>T
NM_003748.4(ALDH4A1):c.994G>A (p.Val332Met) rs767652523

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