ClinVar Miner

List of variants in gene ALDH7A1 reported as uncertain significance for Pyridoxine-dependent epilepsy

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Gene type:
ClinVar version:
Total variants: 339
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.*1730C>T rs185960737 0.00328
NC_000005.10:g.126595278A>C rs563928852 0.00308
NM_001182.5(ALDH7A1):c.*2126G>A rs115168957 0.00188
NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His) rs147940248 0.00118
NM_001182.5(ALDH7A1):c.*1288A>G rs190996922 0.00103
NM_001182.5(ALDH7A1):c.*2549G>C rs556404419 0.00067
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs) rs750693623 0.00057
NM_001182.5(ALDH7A1):c.*2914A>T rs192950824 0.00054
NM_001182.5(ALDH7A1):c.*1693A>C rs557939339 0.00047
NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=) rs369380330 0.00042
NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala) rs375491094 0.00040
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn) rs58528748 0.00032
NM_001182.5(ALDH7A1):c.*2492C>T rs768166252 0.00030
NM_001182.5(ALDH7A1):c.*1484T>C rs886059841 0.00029
NM_001182.5(ALDH7A1):c.*1836C>A rs763990036 0.00024
NM_001182.5(ALDH7A1):c.*2568_*2569dup rs771970643 0.00024
NM_001182.5(ALDH7A1):c.8G>A (p.Arg3His) rs759866910 0.00022
NM_001182.5(ALDH7A1):c.*641G>A rs372065850 0.00019
NM_001182.5(ALDH7A1):c.1276A>G (p.Thr426Ala) rs150305320 0.00019
NM_001182.5(ALDH7A1):c.914C>G (p.Ala305Gly) rs141775154 0.00019
NM_001182.5(ALDH7A1):c.246+6A>T rs759910341 0.00018
NM_001182.5(ALDH7A1):c.528T>C (p.His176=) rs757135576 0.00018
NM_001182.5(ALDH7A1):c.*2818T>C rs886059833 0.00016
NM_001182.5(ALDH7A1):c.393+15T>C rs183254966 0.00016
NM_001182.5(ALDH7A1):c.*2494T>C rs986689762 0.00014
NM_001182.5(ALDH7A1):c.*2314T>C rs561998848 0.00009
NM_001182.5(ALDH7A1):c.*403C>T rs112493228 0.00009
NM_001182.5(ALDH7A1):c.*2370A>G rs1036910923 0.00008
NM_001182.5(ALDH7A1):c.200C>T (p.Thr67Met) rs543181020 0.00007
NM_001182.5(ALDH7A1):c.*717G>A rs886059847 0.00006
NM_001182.5(ALDH7A1):c.1016A>G (p.His339Arg) rs199767457 0.00006
NM_001182.5(ALDH7A1):c.1150G>A (p.Ala384Thr) rs140947675 0.00006
NM_001182.5(ALDH7A1):c.998C>T (p.Ala333Val) rs144625212 0.00006
NM_001182.5(ALDH7A1):c.913+8T>C rs766528289 0.00005
NM_001182.5(ALDH7A1):c.*319T>G rs570223278 0.00004
NM_001182.5(ALDH7A1):c.*5G>A rs759591318 0.00004
NM_001182.5(ALDH7A1):c.*65G>A rs886059848 0.00004
NM_001182.5(ALDH7A1):c.1017T>C (p.His339=) rs200394848 0.00004
NM_001182.5(ALDH7A1):c.1022G>A (p.Ser341Asn) rs141701364 0.00004
NM_001182.5(ALDH7A1):c.1066C>G (p.Gln356Glu) rs138675705 0.00004
NM_001182.5(ALDH7A1):c.1210C>T (p.Arg404Cys) rs181287032 0.00004
NM_001182.5(ALDH7A1):c.154G>C (p.Glu52Gln) rs765562932 0.00004
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 0.00004
NM_001182.5(ALDH7A1):c.720C>T (p.Asp240=) rs757704473 0.00004
NM_001182.5(ALDH7A1):c.*1416A>C rs947195444 0.00003
NM_001182.5(ALDH7A1):c.*1441C>T rs541286622 0.00003
NM_001182.5(ALDH7A1):c.*1475C>T rs1030740620 0.00003
NM_001182.5(ALDH7A1):c.*2365C>T rs886059837 0.00003
NM_001182.5(ALDH7A1):c.*3081C>T rs969756877 0.00003
NM_001182.5(ALDH7A1):c.1073G>T (p.Arg358Leu) rs144671885 0.00003
NM_001182.5(ALDH7A1):c.1405C>T (p.Arg469Cys) rs752523070 0.00003
NM_001182.5(ALDH7A1):c.1489+4C>T rs775065938 0.00003
NM_001182.5(ALDH7A1):c.359C>G (p.Ala120Gly) rs549279821 0.00003
NM_001182.5(ALDH7A1):c.394-15G>A rs766287925 0.00003
NM_001182.5(ALDH7A1):c.517+4A>C rs370875826 0.00003
NM_001182.5(ALDH7A1):c.56C>T (p.Ser19Phe) rs566243475 0.00003
NM_001182.5(ALDH7A1):c.656G>C (p.Gly219Ala) rs202084501 0.00003
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351 0.00003
NM_001182.5(ALDH7A1):c.781A>G (p.Met261Val) rs767172222 0.00003
NM_001182.5(ALDH7A1):c.873G>T (p.Gly291=) rs939560417 0.00003
NM_001182.5(ALDH7A1):c.952G>A (p.Ala318Thr) rs936151635 0.00003
NM_001182.4(ALDH7A1):c.-62G>A rs1331630599 0.00002
NM_001182.5(ALDH7A1):c.*2190T>C rs559274917 0.00002
NM_001182.5(ALDH7A1):c.*2967T>C rs1310767295 0.00002
NM_001182.5(ALDH7A1):c.*931A>G rs1411566716 0.00002
NM_001182.5(ALDH7A1):c.1039G>A (p.Val347Ile) rs757087792 0.00002
NM_001182.5(ALDH7A1):c.1084C>T (p.Pro362Ser) rs532800318 0.00002
NM_001182.5(ALDH7A1):c.1262C>T (p.Ala421Val) rs753598402 0.00002
NM_001182.5(ALDH7A1):c.1442T>C (p.Val481Ala) rs144701796 0.00002
NM_001182.5(ALDH7A1):c.16C>T (p.Arg6Cys) rs781779462 0.00002
NM_001182.5(ALDH7A1):c.19G>T (p.Ala7Ser) rs935322440 0.00002
NM_001182.5(ALDH7A1):c.232G>A (p.Ala78Thr) rs750569691 0.00002
NM_001182.5(ALDH7A1):c.355G>A (p.Asp119Asn) rs1212969829 0.00002
NM_001182.5(ALDH7A1):c.35C>T (p.Ala12Val) rs1465540247 0.00002
NM_001182.5(ALDH7A1):c.826A>G (p.Thr276Ala) rs796052260 0.00002
NM_001182.5(ALDH7A1):c.*1529A>G rs886059839 0.00001
NM_001182.5(ALDH7A1):c.*2498C>T rs866715101 0.00001
NM_001182.5(ALDH7A1):c.*3124A>G rs572425402 0.00001
NM_001182.5(ALDH7A1):c.1008+11C>T rs367574304 0.00001
NM_001182.5(ALDH7A1):c.1015C>T (p.His339Tyr) rs768210262 0.00001
NM_001182.5(ALDH7A1):c.1046G>C (p.Arg349Thr) rs553114356 0.00001
NM_001182.5(ALDH7A1):c.1093C>T (p.Pro365Ser) rs370869432 0.00001
NM_001182.5(ALDH7A1):c.1106A>G (p.Tyr369Cys) rs1210400291 0.00001
NM_001182.5(ALDH7A1):c.1139T>C (p.Met380Thr) rs1342849296 0.00001
NM_001182.5(ALDH7A1):c.1144C>T (p.Leu382Phe) rs894016061 0.00001
NM_001182.5(ALDH7A1):c.1156G>A (p.Glu386Lys) rs756568507 0.00001
NM_001182.5(ALDH7A1):c.118G>A (p.Ala40Thr) rs1457538662 0.00001
NM_001182.5(ALDH7A1):c.119C>T (p.Ala40Val) rs745385277 0.00001
NM_001182.5(ALDH7A1):c.1211G>A (p.Arg404His) rs771975420 0.00001
NM_001182.5(ALDH7A1):c.1225G>T (p.Val409Leu) rs796052263 0.00001
NM_001182.5(ALDH7A1):c.1244C>T (p.Thr415Ile) rs751898560 0.00001
NM_001182.5(ALDH7A1):c.1270G>A (p.Ala424Thr) rs1463447902 0.00001
NM_001182.5(ALDH7A1):c.127A>C (p.Lys43Gln) rs1751698183 0.00001
NM_001182.5(ALDH7A1):c.139C>T (p.Leu47Phe) rs144684547 0.00001
NM_001182.5(ALDH7A1):c.13C>T (p.Pro5Ser) rs745921838 0.00001
NM_001182.5(ALDH7A1):c.1415+15A>G rs370757950 0.00001
NM_001182.5(ALDH7A1):c.1466G>A (p.Gly489Glu) rs1423535503 0.00001
NM_001182.5(ALDH7A1):c.1481G>T (p.Gly494Val) rs763418390 0.00001
NM_001182.5(ALDH7A1):c.14C>T (p.Pro5Leu) rs977914775 0.00001
NM_001182.5(ALDH7A1):c.1549A>G (p.Met517Val) rs1749785606 0.00001
NM_001182.5(ALDH7A1):c.1564T>A (p.Cys522Ser) rs745592760 0.00001
NM_001182.5(ALDH7A1):c.1566-4C>G rs376308594 0.00001
NM_001182.5(ALDH7A1):c.1579A>G (p.Ser527Gly) rs761013423 0.00001
NM_001182.5(ALDH7A1):c.1608C>G (p.Ile536Met) rs763737676 0.00001
NM_001182.5(ALDH7A1):c.17G>C (p.Arg6Pro) rs966540476 0.00001
NM_001182.5(ALDH7A1):c.222C>T (p.Asn74=) rs1007871645 0.00001
NM_001182.5(ALDH7A1):c.235A>G (p.Arg79Gly) rs794727259 0.00001
NM_001182.5(ALDH7A1):c.236G>A (p.Arg79Lys) rs781361567 0.00001
NM_001182.5(ALDH7A1):c.242G>A (p.Arg81Gln) rs1751621256 0.00001
NM_001182.5(ALDH7A1):c.259G>C (p.Asp87His) rs1197981680 0.00001
NM_001182.5(ALDH7A1):c.263A>T (p.Tyr88Phe) rs376294954 0.00001
NM_001182.5(ALDH7A1):c.274G>C (p.Val92Leu) rs945175192 0.00001
NM_001182.5(ALDH7A1):c.283G>A (p.Ala95Thr) rs551163406 0.00001
NM_001182.5(ALDH7A1):c.312+6T>G rs761501683 0.00001
NM_001182.5(ALDH7A1):c.322C>T (p.Pro108Ser) rs1369193908 0.00001
NM_001182.5(ALDH7A1):c.43_46dup (p.Ser16fs) rs767805540 0.00001
NM_001182.5(ALDH7A1):c.44C>T (p.Thr15Ile) rs1410992204 0.00001
NM_001182.5(ALDH7A1):c.491T>C (p.Ile164Thr) rs747873042 0.00001
NM_001182.5(ALDH7A1):c.500C>T (p.Pro167Leu) rs1276294117 0.00001
NM_001182.5(ALDH7A1):c.542A>G (p.Gln181Arg) rs796052257 0.00001
NM_001182.5(ALDH7A1):c.577G>A (p.Ala193Thr) rs773503933 0.00001
NM_001182.5(ALDH7A1):c.607T>G (p.Trp203Gly) rs555896752 0.00001
NM_001182.5(ALDH7A1):c.650+5G>C rs201040092 0.00001
NM_001182.5(ALDH7A1):c.67A>G (p.Ser23Gly) rs796052266 0.00001
NM_001182.5(ALDH7A1):c.683T>C (p.Val228Ala) rs1162631387 0.00001
NM_001182.5(ALDH7A1):c.696-3T>C rs749516893 0.00001
NM_001182.5(ALDH7A1):c.697A>G (p.Ile233Val) rs1750746231 0.00001
NM_001182.5(ALDH7A1):c.722A>G (p.Asn241Ser) rs1428539981 0.00001
NM_001182.5(ALDH7A1):c.73C>T (p.Pro25Ser) rs762624752 0.00001
NM_001182.5(ALDH7A1):c.770T>C (p.Ile257Thr) rs776202861 0.00001
NM_001182.5(ALDH7A1):c.77C>T (p.Ala26Val) rs1751701268 0.00001
NM_001182.5(ALDH7A1):c.7C>T (p.Arg3Cys) rs796052265 0.00001
NM_001182.5(ALDH7A1):c.811T>A (p.Ser271Thr) rs1299466765 0.00001
NM_001182.5(ALDH7A1):c.843G>C (p.Gln281His) rs771054683 0.00001
NM_001182.5(ALDH7A1):c.853A>G (p.Met285Val) rs778146305 0.00001
NM_001182.5(ALDH7A1):c.85A>G (p.Met29Val) rs765544488 0.00001
NM_001182.5(ALDH7A1):c.860A>G (p.Gln287Arg) rs796052261 0.00001
NM_001182.5(ALDH7A1):c.907A>G (p.Ile303Val) rs765153843 0.00001
NM_001182.5(ALDH7A1):c.913+5G>A rs759331064 0.00001
NC_000005.10:g.(?_126575400)_(126575484_?)dup
NC_000005.9:g.(?_125880657)_(125930890_?)dup
NC_000005.9:g.(?_125885611)_(125930890_?)dup
NM_001182.4(ALDH7A1):c.1493_1495delGAG rs796052268
NM_001182.5(ALDH7A1):c.*1287G>A rs1048144152
NM_001182.5(ALDH7A1):c.*1290C>T rs1749687779
NM_001182.5(ALDH7A1):c.*1492G>A rs1371020118
NM_001182.5(ALDH7A1):c.*1496T>A rs886059840
NM_001182.5(ALDH7A1):c.*156G>A rs1749730625
NM_001182.5(ALDH7A1):c.*1748_*1749delinsAT rs386692155
NM_001182.5(ALDH7A1):c.*1839G>A rs886059838
NM_001182.5(ALDH7A1):c.*1844A>T rs1749665523
NM_001182.5(ALDH7A1):c.*21C>T rs868005043
NM_001182.5(ALDH7A1):c.*2409A>C rs776633516
NM_001182.5(ALDH7A1):c.*2464dup rs200155555
NM_001182.5(ALDH7A1):c.*2564G>A rs1749636668
NM_001182.5(ALDH7A1):c.*2584C>A rs886059836
NM_001182.5(ALDH7A1):c.*2700A>T rs886059835
NM_001182.5(ALDH7A1):c.*2781C>T rs886059834
NM_001182.5(ALDH7A1):c.*2820dup rs886059832
NM_001182.5(ALDH7A1):c.*2996_*2997dup rs5871217
NM_001182.5(ALDH7A1):c.*352G>A rs1749722984
NM_001182.5(ALDH7A1):c.*404G>A rs533678440
NM_001182.5(ALDH7A1):c.*409del rs556732113
NM_001182.5(ALDH7A1):c.*704G>A rs1749710686
NM_001182.5(ALDH7A1):c.*898_*900del rs543290589
NM_001182.5(ALDH7A1):c.1008+4A>G rs753819188
NM_001182.5(ALDH7A1):c.1008+6T>A
NM_001182.5(ALDH7A1):c.1027C>T (p.His343Tyr)
NM_001182.5(ALDH7A1):c.1051A>G (p.Lys351Glu)
NM_001182.5(ALDH7A1):c.1056G>T (p.Lys352Asn) rs1750181159
NM_001182.5(ALDH7A1):c.1073G>A (p.Arg358Gln) rs144671885
NM_001182.5(ALDH7A1):c.1084C>A (p.Pro362Thr) rs532800318
NM_001182.5(ALDH7A1):c.1098T>G (p.Asn366Lys) rs1018483380
NM_001182.5(ALDH7A1):c.10C>T (p.Leu4Phe) rs1211626533
NM_001182.5(ALDH7A1):c.1124A>G (p.Lys375Arg) rs1298566677
NM_001182.5(ALDH7A1):c.1126C>A (p.Gln376Lys) rs564187364
NM_001182.5(ALDH7A1):c.1129G>A (p.Ala377Thr) rs750205677
NM_001182.5(ALDH7A1):c.1135A>G (p.Ser379Gly)
NM_001182.5(ALDH7A1):c.1138A>G (p.Met380Val) rs1750106169
NM_001182.5(ALDH7A1):c.1153G>C (p.Val385Leu) rs2112759864
NM_001182.5(ALDH7A1):c.1163C>G (p.Ala388Gly) rs1561651205
NM_001182.5(ALDH7A1):c.119C>G (p.Ala40Gly) rs745385277
NM_001182.5(ALDH7A1):c.1200+6G>A rs897504760
NM_001182.5(ALDH7A1):c.1201G>A (p.Val401Ile)
NM_001182.5(ALDH7A1):c.1235C>T (p.Thr412Ile) rs1471604421
NM_001182.5(ALDH7A1):c.1237A>G (p.Ile413Val)
NM_001182.5(ALDH7A1):c.1240G>A (p.Val414Met) rs1750021508
NM_001182.5(ALDH7A1):c.1249C>T (p.Leu417Phe) rs1318876453
NM_001182.5(ALDH7A1):c.1258G>T (p.Asp420Tyr) rs758810390
NM_001182.5(ALDH7A1):c.1265C>G (p.Ser422Cys) rs1253321873
NM_001182.5(ALDH7A1):c.1289C>A (p.Ala430Asp)
NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys) rs747597620
NM_001182.5(ALDH7A1):c.1310A>C (p.Lys437Thr)
NM_001182.5(ALDH7A1):c.1317+6A>G rs1750016047
NM_001182.5(ALDH7A1):c.1318-8C>T
NM_001182.5(ALDH7A1):c.1347T>A (p.Asn449Lys) rs1342037208
NM_001182.5(ALDH7A1):c.1375A>G (p.Ile459Val) rs186558364
NM_001182.5(ALDH7A1):c.1377C>G (p.Ile459Met)
NM_001182.5(ALDH7A1):c.1384A>G (p.Lys462Glu) rs375090702
NM_001182.5(ALDH7A1):c.1394G>A (p.Gly465Asp) rs947628303
NM_001182.5(ALDH7A1):c.1411C>T (p.Leu471Phe) rs989375168
NM_001182.5(ALDH7A1):c.1417C>A (p.Pro473Thr) rs2112752456
NM_001182.5(ALDH7A1):c.141_142insA (p.Arg48fs) rs1296037862
NM_001182.5(ALDH7A1):c.1426T>G (p.Ser476Ala)
NM_001182.5(ALDH7A1):c.1429G>C (p.Asp477His) rs1749935128
NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr) rs886059849
NM_001182.5(ALDH7A1):c.1447G>A (p.Val483Ile)
NM_001182.5(ALDH7A1):c.1451A>G (p.Asn484Ser) rs1561648688
NM_001182.5(ALDH7A1):c.1472A>T (p.Glu491Val) rs2112752333
NM_001182.5(ALDH7A1):c.1474A>G (p.Ile492Val) rs1173360765
NM_001182.5(ALDH7A1):c.1480G>A (p.Gly494Ser) rs2112752319
NM_001182.5(ALDH7A1):c.1489+5del
NM_001182.5(ALDH7A1):c.1489+6T>C rs763393955
NM_001182.5(ALDH7A1):c.149A>G (p.Glu50Gly) rs2112819973
NM_001182.5(ALDH7A1):c.1507G>A (p.Gly503Ser) rs1749787678
NM_001182.5(ALDH7A1):c.1510G>C (p.Gly504Arg) rs1434175322
NM_001182.5(ALDH7A1):c.1515C>A (p.Gly505=) rs765576421
NM_001182.5(ALDH7A1):c.1517G>A (p.Arg506Lys) rs2112746227
NM_001182.5(ALDH7A1):c.1519G>C (p.Glu507Gln) rs2112746220
NM_001182.5(ALDH7A1):c.1520A>C (p.Glu507Ala) rs80049945
NM_001182.5(ALDH7A1):c.1536C>T (p.Ala512=) rs1015790945
NM_001182.5(ALDH7A1):c.1549A>T (p.Met517Leu) rs1749785606
NM_001182.5(ALDH7A1):c.1551G>A (p.Met517Ile) rs1064794774
NM_001182.5(ALDH7A1):c.1553G>A (p.Arg518Lys)
NM_001182.5(ALDH7A1):c.1554A>G (p.Arg518=) rs1749785160
NM_001182.5(ALDH7A1):c.1570A>G (p.Ile524Val)
NM_001182.5(ALDH7A1):c.1575C>G (p.Asn525Lys) rs1749738847
NM_001182.5(ALDH7A1):c.160G>A (p.Val54Met) rs1751695700
NM_001182.5(ALDH7A1):c.16C>A (p.Arg6Ser) rs781779462
NM_001182.5(ALDH7A1):c.170G>C (p.Gly57Ala) rs1751695413
NM_001182.5(ALDH7A1):c.182G>C (p.Gly61Ala)
NM_001182.5(ALDH7A1):c.184C>T (p.Arg62Trp) rs1751694421
NM_001182.5(ALDH7A1):c.187G>A (p.Gly63Arg)
NM_001182.5(ALDH7A1):c.192+5G>A rs2112819871
NM_001182.5(ALDH7A1):c.192G>A (p.Glu64=) rs1581409051
NM_001182.5(ALDH7A1):c.193-15_193-9delinsCCCTTTG
NM_001182.5(ALDH7A1):c.19_32delinsCACATACTGAGCC (p.Ala7fs) rs1751705211
NM_001182.5(ALDH7A1):c.1A>G (p.Met1Val)
NM_001182.5(ALDH7A1):c.201G>T (p.Thr67=) rs747643987
NM_001182.5(ALDH7A1):c.206A>G (p.Tyr69Cys) rs796052258
NM_001182.5(ALDH7A1):c.20C>T (p.Ala7Val) rs1561674305
NM_001182.5(ALDH7A1):c.21_22delinsTG (p.Leu8Val) rs2112820337
NM_001182.5(ALDH7A1):c.223G>A (p.Glu75Lys)
NM_001182.5(ALDH7A1):c.23T>C (p.Leu8Pro) rs796052255
NM_001182.5(ALDH7A1):c.242G>T (p.Arg81Leu) rs1751621256
NM_001182.5(ALDH7A1):c.244del (p.Gln82fs) rs1317880376
NM_001182.5(ALDH7A1):c.246+3A>G
NM_001182.5(ALDH7A1):c.246+6_246+7del rs1554101757
NM_001182.5(ALDH7A1):c.246+7GT[22] rs142510783
NM_001182.5(ALDH7A1):c.247G>A (p.Ala83Thr) rs1561672611
NM_001182.5(ALDH7A1):c.261C>G (p.Asp87Glu)
NM_001182.5(ALDH7A1):c.286A>G (p.Arg96Gly) rs1751591318
NM_001182.5(ALDH7A1):c.2T>A (p.Met1Lys) rs1168011770
NM_001182.5(ALDH7A1):c.313-10C>A rs567441242
NM_001182.5(ALDH7A1):c.313-15G>A rs201720741
NM_001182.5(ALDH7A1):c.359C>A (p.Ala120Asp) rs549279821
NM_001182.5(ALDH7A1):c.398C>G (p.Ser133Cys) rs1295063805
NM_001182.5(ALDH7A1):c.412A>C (p.Lys138Gln)
NM_001182.5(ALDH7A1):c.422T>C (p.Val141Ala) rs1751225927
NM_001182.5(ALDH7A1):c.423G>C (p.Val141=) rs199653162
NM_001182.5(ALDH7A1):c.42G>C (p.Lys14Asn) rs1751704302
NM_001182.5(ALDH7A1):c.430G>A (p.Val144Met) rs1481441203
NM_001182.5(ALDH7A1):c.434G>A (p.Gly145Asp) rs2112802788
NM_001182.5(ALDH7A1):c.438A>C (p.Glu146Asp) rs1751225267
NM_001182.5(ALDH7A1):c.439G>T (p.Val147Phe)
NM_001182.5(ALDH7A1):c.43A>G (p.Thr15Ala)
NM_001182.5(ALDH7A1):c.442C>G (p.Gln148Glu) rs551773096
NM_001182.5(ALDH7A1):c.449A>G (p.Tyr150Cys)
NM_001182.5(ALDH7A1):c.458T>C (p.Ile153Thr) rs2112802741
NM_001182.5(ALDH7A1):c.464A>C (p.Asp155Ala)
NM_001182.5(ALDH7A1):c.467A>G (p.Tyr156Cys) rs2112802725
NM_001182.5(ALDH7A1):c.485G>A (p.Arg162Lys) rs781569684
NM_001182.5(ALDH7A1):c.487A>G (p.Met163Val) rs1484484387
NM_001182.5(ALDH7A1):c.494G>T (p.Gly165Val) rs375491094
NM_001182.5(ALDH7A1):c.508C>T (p.Pro170Ser)
NM_001182.5(ALDH7A1):c.50dup (p.Leu18fs) rs1444879414
NM_001182.5(ALDH7A1):c.518-8G>A rs886059850
NM_001182.5(ALDH7A1):c.533T>C (p.Leu178Pro) rs2112794713
NM_001182.5(ALDH7A1):c.536T>C (p.Ile179Thr) rs763217060
NM_001182.5(ALDH7A1):c.537T>G (p.Ile179Met)
NM_001182.5(ALDH7A1):c.53T>C (p.Leu18Pro) rs1751703307
NM_001182.5(ALDH7A1):c.553G>T (p.Val185Leu) rs61757685
NM_001182.5(ALDH7A1):c.568A>G (p.Ile190Val) rs2112794630
NM_001182.5(ALDH7A1):c.574A>G (p.Thr192Ala) rs1751003876
NM_001182.5(ALDH7A1):c.58G>A (p.Gly20Arg) rs1751702703
NM_001182.5(ALDH7A1):c.593T>C (p.Val198Ala)
NM_001182.5(ALDH7A1):c.59G>C (p.Gly20Ala)
NM_001182.5(ALDH7A1):c.616G>A (p.Ala206Thr) rs1751000940
NM_001182.5(ALDH7A1):c.619A>T (p.Ile207Phe)
NM_001182.5(ALDH7A1):c.61C>A (p.Pro21Thr) rs2112820209
NM_001182.5(ALDH7A1):c.623C>T (p.Ala208Val) rs200433565
NM_001182.5(ALDH7A1):c.632G>T (p.Cys211Phe) rs1131691976
NM_001182.5(ALDH7A1):c.637A>G (p.Asn213Asp)
NM_001182.5(ALDH7A1):c.646C>T (p.Leu216Phe) rs753791407
NM_001182.5(ALDH7A1):c.647T>C (p.Leu216Pro) rs1750999017
NM_001182.5(ALDH7A1):c.651-18T>A rs2112792324
NM_001182.5(ALDH7A1):c.651G>C (p.Trp217Cys) rs1750933255
NM_001182.5(ALDH7A1):c.658G>A (p.Ala220Thr) rs2112792275
NM_001182.5(ALDH7A1):c.66G>A (p.Trp22Ter)
NM_001182.5(ALDH7A1):c.66G>C (p.Trp22Cys) rs1049217
NM_001182.5(ALDH7A1):c.671C>G (p.Ser224Cys) rs1389146330
NM_001182.5(ALDH7A1):c.671C>T (p.Ser224Phe) rs1389146330
NM_001182.5(ALDH7A1):c.676A>G (p.Ile226Val)
NM_001182.5(ALDH7A1):c.682G>A (p.Val228Met) rs201832111
NM_001182.5(ALDH7A1):c.685G>A (p.Ala229Thr)
NM_001182.5(ALDH7A1):c.686C>T (p.Ala229Val) rs1473102872
NM_001182.5(ALDH7A1):c.688G>A (p.Val230Ile)
NM_001182.5(ALDH7A1):c.695+24_695+25insACATGTGGCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_001182.5(ALDH7A1):c.695+3A>T
NM_001182.5(ALDH7A1):c.69C>G (p.Ser23Arg)
NM_001182.5(ALDH7A1):c.71G>C (p.Arg24Thr)
NM_001182.5(ALDH7A1):c.720CAA[1] (p.Asn241del) rs1195228817
NM_001182.5(ALDH7A1):c.739A>G (p.Ile247Val)
NM_001182.5(ALDH7A1):c.761G>A (p.Gly254Glu)
NM_001182.5(ALDH7A1):c.766G>C (p.Asp256His)
NM_001182.5(ALDH7A1):c.788A>G (p.Lys263Arg) rs1750659916
NM_001182.5(ALDH7A1):c.791A>T (p.Asp264Val)
NM_001182.5(ALDH7A1):c.796C>G (p.Arg266Gly) rs1270423610
NM_001182.5(ALDH7A1):c.79G>A (p.Ala27Thr)
NM_001182.5(ALDH7A1):c.79G>C (p.Ala27Pro) rs1060502950
NM_001182.5(ALDH7A1):c.812C>G (p.Ser271Cys) rs1450375365
NM_001182.5(ALDH7A1):c.832G>T (p.Val278Leu) rs796262086
NM_001182.5(ALDH7A1):c.848G>A (p.Gly283Asp) rs1181991285
NM_001182.5(ALDH7A1):c.866_871+2dup rs1581378971
NM_001182.5(ALDH7A1):c.871G>T (p.Gly291Trp) rs1750656759
NM_001182.5(ALDH7A1):c.8G>T (p.Arg3Leu) rs759866910
NM_001182.5(ALDH7A1):c.904G>A (p.Ala302Thr) rs2112771286
NM_001182.5(ALDH7A1):c.908T>C (p.Ile303Thr) rs2112771278
NM_001182.5(ALDH7A1):c.913+6G>T
NM_001182.5(ALDH7A1):c.917T>C (p.Phe306Ser) rs1750312560
NM_001182.5(ALDH7A1):c.921A>G (p.Glu307=)
NM_001182.5(ALDH7A1):c.926C>T (p.Ala309Val)
NM_001182.5(ALDH7A1):c.928G>T (p.Asp310Tyr)
NM_001182.5(ALDH7A1):c.936C>G (p.Ser312Arg) rs1561654302
NM_001182.5(ALDH7A1):c.952G>C (p.Ala318Pro) rs936151635
NM_001182.5(ALDH7A1):c.955C>A (p.Leu319Ile) rs775830338
NM_001182.5(ALDH7A1):c.979G>A (p.Gly327Ser) rs1554099008
NM_001182.5(ALDH7A1):c.995C>G (p.Thr332Ser) rs543182575
NM_001182.5(ALDH7A1):c.995C>T (p.Thr332Ile) rs543182575

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