ClinVar Miner

List of variants in gene ALDH3A2 studied for syndromic dyslipidemia

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 221
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HGVS dbSNP gnomAD frequency
NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=) rs7216 0.56713
NM_000382.3(ALDH3A2):c.153+39C>T rs4646793 0.26984
NM_000382.3(ALDH3A2):c.472-56G>A rs2072332 0.26925
NM_000382.3(ALDH3A2):c.471+31T>C rs1004491 0.25856
NM_000382.3(ALDH3A2):c.940+53C>G rs1800869 0.19359
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487 0.01228
NM_000382.3(ALDH3A2):c.*36G>A rs138462610 0.00775
NM_000382.3(ALDH3A2):c.28C>G (p.Gln10Glu) rs72547554 0.00421
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992 0.00419
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly) rs147190807 0.00099
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=) rs150927045 0.00058
NM_000382.3(ALDH3A2):c.564G>A (p.Ala188=) rs61757681 0.00050
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=) rs200806435 0.00030
NM_000382.3(ALDH3A2):c.1108-3C>T rs148944691 0.00023
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=) rs144496536 0.00020
NM_000382.3(ALDH3A2):c.978G>C (p.Lys326Asn) rs143717984 0.00016
NM_000382.3(ALDH3A2):c.989A>G (p.Glu330Gly) rs147200808 0.00015
NM_000382.3(ALDH3A2):c.639A>G (p.Pro213=) rs140649688 0.00014
NM_000382.3(ALDH3A2):c.65T>C (p.Phe22Ser) rs751631165 0.00010
NM_000382.3(ALDH3A2):c.345C>T (p.Phe115=) rs201390270 0.00009
NM_000382.3(ALDH3A2):c.1373G>A (p.Arg458Gln) rs144190241 0.00007
NM_000382.3(ALDH3A2):c.1179G>A (p.Thr393=) rs372428552 0.00006
NM_000382.3(ALDH3A2):c.1254T>C (p.Thr418=) rs373251784 0.00006
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561 0.00006
NM_000382.3(ALDH3A2):c.799-6A>G rs746519259 0.00006
NM_000382.3(ALDH3A2):c.87C>G (p.Ala29=) rs749679693 0.00005
NM_000382.3(ALDH3A2):c.1144G>A (p.Gly382Ser) rs565908396 0.00004
NM_000382.3(ALDH3A2):c.1392C>T (p.Leu464=) rs181889379 0.00003
NM_000382.3(ALDH3A2):c.287A>G (p.Tyr96Cys) rs747913174 0.00003
NM_000382.3(ALDH3A2):c.378C>T (p.Ile126=) rs1555532936 0.00003
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562 0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000382.3(ALDH3A2):c.957C>T (p.Thr319=) rs886052690 0.00003
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu) rs72547573 0.00002
NM_000382.3(ALDH3A2):c.1443+1G>A rs199548781 0.00002
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys) rs72547566 0.00002
NM_000382.3(ALDH3A2):c.683G>A (p.Arg228His) rs866392702 0.00002
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568 0.00002
NM_000382.3(ALDH3A2):c.1021C>G (p.Pro341Ala) rs140519419 0.00001
NM_000382.3(ALDH3A2):c.1032T>C (p.Asn344=) rs1220711241 0.00001
NM_000382.3(ALDH3A2):c.114G>A (p.Glu38=) rs919836950 0.00001
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) rs72547575 0.00001
NM_000382.3(ALDH3A2):c.1268G>A (p.Arg423His) rs768290318 0.00001
NM_000382.3(ALDH3A2):c.623T>C (p.Leu208Pro) rs786205501 0.00001
NM_000382.3(ALDH3A2):c.798+1_798+6del rs1057517352 0.00001
NM_000382.3(ALDH3A2):c.832G>A (p.Asp278Asn) rs934749419 0.00001
NM_000382.3(ALDH3A2):c.919G>A (p.Asp307Asn) rs745558212 0.00001
NM_000382.2(ALDH3A2):c.154_155delAG rs1428029642
NM_000382.2(ALDH3A2):c.[733G>A;901G>C;906delT;909T>G]
NM_000382.3(ALDH3A2):c.*1030G>T
NM_000382.3(ALDH3A2):c.*1082G>A
NM_000382.3(ALDH3A2):c.*1184A>G
NM_000382.3(ALDH3A2):c.*1256C>G
NM_000382.3(ALDH3A2):c.*1258A>C
NM_000382.3(ALDH3A2):c.*1314T>C
NM_000382.3(ALDH3A2):c.*1362G>A
NM_000382.3(ALDH3A2):c.*1452C>G
NM_000382.3(ALDH3A2):c.*1462G>A
NM_000382.3(ALDH3A2):c.*1600C>G
NM_000382.3(ALDH3A2):c.*1609A>G
NM_000382.3(ALDH3A2):c.*1628A>G
NM_000382.3(ALDH3A2):c.*1656C>T
NM_000382.3(ALDH3A2):c.*171A>G
NM_000382.3(ALDH3A2):c.*1721C>T
NM_000382.3(ALDH3A2):c.*1788C>G
NM_000382.3(ALDH3A2):c.*1802A>G
NM_000382.3(ALDH3A2):c.*1877CA[1]
NM_000382.3(ALDH3A2):c.*1900A>G
NM_000382.3(ALDH3A2):c.*1930C>T
NM_000382.3(ALDH3A2):c.*1938G>A
NM_000382.3(ALDH3A2):c.*1971A>G
NM_000382.3(ALDH3A2):c.*292G>T
NM_000382.3(ALDH3A2):c.*330T>C
NM_000382.3(ALDH3A2):c.*377TG[2]
NM_000382.3(ALDH3A2):c.*378G>A
NM_000382.3(ALDH3A2):c.*439G>C
NM_000382.3(ALDH3A2):c.*630G>A
NM_000382.3(ALDH3A2):c.*636T>C
NM_000382.3(ALDH3A2):c.*669del
NM_000382.3(ALDH3A2):c.*694C>T
NM_000382.3(ALDH3A2):c.*699A>G
NM_000382.3(ALDH3A2):c.*700G>T
NM_000382.3(ALDH3A2):c.*730T>A
NM_000382.3(ALDH3A2):c.*740G>C
NM_000382.3(ALDH3A2):c.*847C>T
NM_000382.3(ALDH3A2):c.*973T>C
NM_000382.3(ALDH3A2):c.-11A>G
NM_000382.3(ALDH3A2):c.-149C>G
NM_000382.3(ALDH3A2):c.-154G>A
NM_000382.3(ALDH3A2):c.-3G>A
NM_000382.3(ALDH3A2):c.-67C>T
NM_000382.3(ALDH3A2):c.-97G>A
NM_000382.3(ALDH3A2):c.1000G>T (p.Gly334Ter)
NM_000382.3(ALDH3A2):c.1003C>T (p.Pro335Ser)
NM_000382.3(ALDH3A2):c.1023_1026del (p.Val342fs)
NM_000382.3(ALDH3A2):c.103C>T (p.Gln35Ter)
NM_000382.3(ALDH3A2):c.103del (p.Gln35fs)
NM_000382.3(ALDH3A2):c.1096del (p.His366fs)
NM_000382.3(ALDH3A2):c.10G>T (p.Glu4Ter)
NM_000382.3(ALDH3A2):c.1100del (p.Asn367fs)
NM_000382.3(ALDH3A2):c.1107+1G>T
NM_000382.3(ALDH3A2):c.1108-1G>A
NM_000382.3(ALDH3A2):c.1108-1G>C rs1036733598
NM_000382.3(ALDH3A2):c.1108-1G>T rs1036733598
NM_000382.3(ALDH3A2):c.1108-2A>G
NM_000382.3(ALDH3A2):c.1137del (p.Ser380fs) rs2152331147
NM_000382.3(ALDH3A2):c.1141G>T (p.Gly381Ter)
NM_000382.3(ALDH3A2):c.1187_1188del (p.Ser396fs)
NM_000382.3(ALDH3A2):c.1198G>A (p.Gly400Arg)
NM_000382.3(ALDH3A2):c.1207+130del rs59755039
NM_000382.3(ALDH3A2):c.1207+1G>A
NM_000382.3(ALDH3A2):c.1212del (p.Ser405fs)
NM_000382.3(ALDH3A2):c.1258dup (p.Ser420fs)
NM_000382.3(ALDH3A2):c.126del (p.Thr43fs)
NM_000382.3(ALDH3A2):c.1277T>G (p.Leu426Ter)
NM_000382.3(ALDH3A2):c.1291_1292del (p.Lys431fs) rs781059624
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000382.3(ALDH3A2):c.1302dup (p.Ala435fs)
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs) rs387906257
NM_000382.3(ALDH3A2):c.1309A>T (p.Lys437Ter) rs1567607328
NM_000382.3(ALDH3A2):c.1313dup (p.Arg439fs)
NM_000382.3(ALDH3A2):c.1320T>A (p.Tyr440Ter)
NM_000382.3(ALDH3A2):c.1347T>C (p.Asp449=) rs1054840414
NM_000382.3(ALDH3A2):c.1350G>A (p.Trp450Ter)
NM_000382.3(ALDH3A2):c.1362dup (p.Leu455fs)
NM_000382.3(ALDH3A2):c.1367T>A (p.Leu456Ter)
NM_000382.3(ALDH3A2):c.1367del (p.Leu455_Leu456insTer)
NM_000382.3(ALDH3A2):c.142G>T (p.Asp48Tyr)
NM_000382.3(ALDH3A2):c.1431T>A (p.Ala477=) rs1320588121
NM_000382.3(ALDH3A2):c.1443+1222del
NM_000382.3(ALDH3A2):c.1443+1273_1443+1275delinsGG
NM_000382.3(ALDH3A2):c.1443+1274_1443+1275del
NM_000382.3(ALDH3A2):c.1444-1G>T
NM_000382.3(ALDH3A2):c.1444-4C>T
NM_000382.3(ALDH3A2):c.151_152del (p.Lys51fs) rs1057517403
NM_000382.3(ALDH3A2):c.153+2T>G
NM_000382.3(ALDH3A2):c.1A>G (p.Met1Val)
NM_000382.3(ALDH3A2):c.1A>T (p.Met1Leu)
NM_000382.3(ALDH3A2):c.231del (p.Glu77fs)
NM_000382.3(ALDH3A2):c.234G>A (p.Trp78Ter)
NM_000382.3(ALDH3A2):c.253_254del (p.Lys85fs)
NM_000382.3(ALDH3A2):c.255GAA[1] (p.Lys86del)
NM_000382.3(ALDH3A2):c.257_259delinsCACTCAGC (p.Lys86fs)
NM_000382.3(ALDH3A2):c.25C>T (p.Arg9Ter)
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs) rs767751416
NM_000382.3(ALDH3A2):c.281dup (p.Ala95fs)
NM_000382.3(ALDH3A2):c.286_296del (p.Tyr96fs) rs2152326471
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter) rs72547554
NM_000382.3(ALDH3A2):c.2T>A (p.Met1Lys)
NM_000382.3(ALDH3A2):c.303T>C (p.Pro101=) rs773093556
NM_000382.3(ALDH3A2):c.341C>T (p.Pro114Leu)
NM_000382.3(ALDH3A2):c.352A>G (p.Thr118Ala)
NM_000382.3(ALDH3A2):c.362C>T (p.Pro121Leu)
NM_000382.3(ALDH3A2):c.364del (p.Pro121_Leu122insTer) rs2152326510
NM_000382.3(ALDH3A2):c.371_373del (p.Gly124del)
NM_000382.3(ALDH3A2):c.374_378del (p.Ala125fs) rs886039304
NM_000382.3(ALDH3A2):c.385+1G>C
NM_000382.3(ALDH3A2):c.385+2T>C rs2084819840
NM_000382.3(ALDH3A2):c.386-6A>G rs117330764
NM_000382.3(ALDH3A2):c.3G>A (p.Met1Ile)
NM_000382.3(ALDH3A2):c.3G>C (p.Met1Ile)
NM_000382.3(ALDH3A2):c.401T>C (p.Ile134Thr)
NM_000382.3(ALDH3A2):c.420_426del (p.Ser140fs)
NM_000382.3(ALDH3A2):c.421dup (p.Glu141fs)
NM_000382.3(ALDH3A2):c.464T>A (p.Leu155Ter)
NM_000382.3(ALDH3A2):c.471+1G>C
NM_000382.3(ALDH3A2):c.471+1del rs786204741
NM_000382.3(ALDH3A2):c.471+2T>G
NM_000382.3(ALDH3A2):c.472-2A>G
NM_000382.3(ALDH3A2):c.50C>A (p.Ser17Ter) rs1447023449
NM_000382.3(ALDH3A2):c.521del (p.Leu174fs)
NM_000382.3(ALDH3A2):c.522_523del (p.Lys175fs)
NM_000382.3(ALDH3A2):c.551C>G (p.Thr184Arg)
NM_000382.3(ALDH3A2):c.566T>C (p.Val189Ala)
NM_000382.3(ALDH3A2):c.571A>T (p.Lys191Ter)
NM_000382.3(ALDH3A2):c.574dup (p.Ile192fs) rs772967175
NM_000382.3(ALDH3A2):c.577del (p.Val193fs)
NM_000382.3(ALDH3A2):c.5_6delinsC (p.Glu2fs)
NM_000382.3(ALDH3A2):c.605C>A (p.Thr202Asn)
NM_000382.3(ALDH3A2):c.608del (p.Pro203fs)
NM_000382.3(ALDH3A2):c.620A>C (p.Glu207Ala)
NM_000382.3(ALDH3A2):c.631A>G (p.Lys211Glu)
NM_000382.3(ALDH3A2):c.639_640del (p.Cys214fs)
NM_000382.3(ALDH3A2):c.641G>A (p.Cys214Tyr)
NM_000382.3(ALDH3A2):c.652A>T (p.Lys218Ter)
NM_000382.3(ALDH3A2):c.653_654del (p.Lys218fs)
NM_000382.3(ALDH3A2):c.680+1G>A
NM_000382.3(ALDH3A2):c.680G>A (p.Arg227Lys)
NM_000382.3(ALDH3A2):c.681-14T>A
NM_000382.3(ALDH3A2):c.681-1G>A
NM_000382.3(ALDH3A2):c.681-37_681-30del rs3034928
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr) rs72547567
NM_000382.3(ALDH3A2):c.723C>A (p.Cys241Ter)
NM_000382.3(ALDH3A2):c.73C>T (p.Gln25Ter) rs2152325575
NM_000382.3(ALDH3A2):c.760C>T (p.Gln254Ter)
NM_000382.3(ALDH3A2):c.769dup (p.Ile257fs)
NM_000382.3(ALDH3A2):c.776G>A (p.Trp259Ter)
NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter) rs1555533754
NM_000382.3(ALDH3A2):c.784A>T (p.Lys262Ter)
NM_000382.3(ALDH3A2):c.786G>A (p.Lys262=) rs886052688
NM_000382.3(ALDH3A2):c.798+1G>A
NM_000382.3(ALDH3A2):c.798+1del rs757359379
NM_000382.3(ALDH3A2):c.798+5G>A
NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn) rs72547569
NM_000382.3(ALDH3A2):c.799G>T (p.Glu267Ter)
NM_000382.3(ALDH3A2):c.809del (p.Gly270fs)
NM_000382.3(ALDH3A2):c.824_825del (p.Glu275fs) rs1057516788
NM_000382.3(ALDH3A2):c.837T>G (p.Tyr279Ter)
NM_000382.3(ALDH3A2):c.86C>T (p.Ala29Val)
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
NM_000382.3(ALDH3A2):c.901del (p.Ala301fs)
NM_000382.3(ALDH3A2):c.908G>T (p.Gly303Val)
NM_000382.3(ALDH3A2):c.913G>T (p.Glu305Ter)
NM_000382.3(ALDH3A2):c.918T>C (p.Thr306=)
NM_000382.3(ALDH3A2):c.932G>T (p.Arg311Leu)
NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla) rs730880264
NM_000382.3(ALDH3A2):c.946del (p.Thr316fs)
NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer) rs779956047
NM_000382.3(ALDH3A2):c.984G>A (p.Met328Ile)
NM_000382.3(ALDH3A2):c.988GAA[1] (p.Glu331del) rs746747637
NM_000382.3(ALDH3A2):c.993A>C (p.Glu331Asp)

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