ClinVar Miner

List of variants in gene ALDH7A1 reported as likely benign for Pyridoxine-dependent epilepsy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 389
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.*2387A>G rs116566135 0.00607
NM_001182.5(ALDH7A1):c.*325A>G rs55923017 0.00504
NM_001182.5(ALDH7A1):c.1009-6G>A rs138056453 0.00500
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_001182.5(ALDH7A1):c.*690T>C rs139905907 0.00352
NM_001182.4(ALDH7A1):c.-80T>G rs563928852 0.00308
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618 0.00250
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656 0.00144
NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His) rs147940248 0.00118
NM_001182.4(ALDH7A1):c.-29T>C rs556650006 0.00100
NM_001182.5(ALDH7A1):c.774-18G>A rs185333013 0.00043
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.246+17_246+19dup rs757765046 0.00029
NM_001182.5(ALDH7A1):c.858G>A (p.Val286=) rs150623275 0.00028
NM_001182.5(ALDH7A1):c.*2603G>A rs74415886 0.00025
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) rs201566142 0.00020
NM_001182.5(ALDH7A1):c.1276A>G (p.Thr426Ala) rs150305320 0.00019
NM_001182.5(ALDH7A1):c.193-20C>T rs199762757 0.00018
NM_001182.5(ALDH7A1):c.528T>C (p.His176=) rs757135576 0.00018
NM_001182.5(ALDH7A1):c.393+15T>C rs183254966 0.00016
NM_001182.5(ALDH7A1):c.553G>A (p.Val185Ile) rs61757685 0.00016
NM_001182.5(ALDH7A1):c.1416-11T>C rs577675361 0.00015
NM_001182.5(ALDH7A1):c.63T>C (p.Pro21=) rs368427726 0.00014
NM_001182.5(ALDH7A1):c.960C>T (p.Phe320=) rs114516357 0.00014
NM_001182.5(ALDH7A1):c.552C>T (p.Pro184=) rs369859575 0.00013
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850 0.00011
NM_001182.5(ALDH7A1):c.1287T>C (p.Phe429=) rs375030056 0.00010
NM_001182.5(ALDH7A1):c.1305C>G (p.Val435=) rs142975776 0.00010
NM_001182.5(ALDH7A1):c.774-19C>T rs373058643 0.00010
NM_001182.5(ALDH7A1):c.1201-8T>C rs558579795 0.00008
NM_001182.5(ALDH7A1):c.200C>T (p.Thr67Met) rs543181020 0.00007
NM_001182.5(ALDH7A1):c.780A>G (p.Ala260=) rs772877760 0.00007
NM_001182.5(ALDH7A1):c.1016A>G (p.His339Arg) rs199767457 0.00006
NM_001182.5(ALDH7A1):c.246+9G>C rs1430553508 0.00005
NM_001182.5(ALDH7A1):c.882G>C (p.Leu294=) rs751053781 0.00005
NM_001182.5(ALDH7A1):c.913+8T>C rs766528289 0.00005
NM_001182.5(ALDH7A1):c.1017T>C (p.His339=) rs200394848 0.00004
NM_001182.5(ALDH7A1):c.1068G>A (p.Gln356=) rs376004978 0.00004
NM_001182.5(ALDH7A1):c.1201-14T>C rs764812810 0.00004
NM_001182.5(ALDH7A1):c.1415+13C>T rs776975478 0.00004
NM_001182.5(ALDH7A1):c.1461A>G (p.Thr487=) rs372488916 0.00004
NM_001182.5(ALDH7A1):c.1506T>C (p.Thr502=) rs565405031 0.00004
NM_001182.5(ALDH7A1):c.183C>A (p.Gly61=) rs374526203 0.00004
NM_001182.5(ALDH7A1):c.417C>T (p.Ile139=) rs772201739 0.00004
NM_001182.5(ALDH7A1):c.720C>T (p.Asp240=) rs757704473 0.00004
NM_001182.5(ALDH7A1):c.1257C>T (p.His419=) rs778236831 0.00003
NM_001182.5(ALDH7A1):c.1272A>G (p.Ala424=) rs749889093 0.00003
NM_001182.5(ALDH7A1):c.1317+19C>T rs368215460 0.00003
NM_001182.5(ALDH7A1):c.1318-16A>G rs879606419 0.00003
NM_001182.5(ALDH7A1):c.133C>T (p.Leu45=) rs757162735 0.00003
NM_001182.5(ALDH7A1):c.1490-15T>G rs192673749 0.00003
NM_001182.5(ALDH7A1):c.246+8T>A rs1049927397 0.00003
NM_001182.5(ALDH7A1):c.354C>T (p.Gly118=) rs149228266 0.00003
NM_001182.5(ALDH7A1):c.394-15G>A rs766287925 0.00003
NM_001182.5(ALDH7A1):c.597A>G (p.Ala199=) rs745357569 0.00003
NM_001182.5(ALDH7A1):c.650+18T>C rs570318899 0.00003
NM_001182.5(ALDH7A1):c.705C>G (p.Ala235=) rs908023912 0.00003
NM_001182.5(ALDH7A1):c.871+8T>G rs750152298 0.00003
NM_001182.5(ALDH7A1):c.914-13G>A rs148928130 0.00003
NM_001182.5(ALDH7A1):c.1093+7A>G rs746798021 0.00002
NM_001182.5(ALDH7A1):c.1233G>A (p.Pro411=) rs572831296 0.00002
NM_001182.5(ALDH7A1):c.1356A>C (p.Lys452Asn) rs756859037 0.00002
NM_001182.5(ALDH7A1):c.1374C>T (p.Ser458=) rs978958073 0.00002
NM_001182.5(ALDH7A1):c.153C>T (p.Asn51=) rs752537865 0.00002
NM_001182.5(ALDH7A1):c.1565+15T>C rs375505703 0.00002
NM_001182.5(ALDH7A1):c.576G>A (p.Thr192=) rs889358689 0.00002
NM_001182.5(ALDH7A1):c.717G>A (p.Glu239=) rs768018240 0.00002
NM_001182.5(ALDH7A1):c.852G>C (p.Leu284=) rs747107627 0.00002
NM_001182.5(ALDH7A1):c.872-14T>G rs779537981 0.00002
NM_001182.5(ALDH7A1):c.872-19A>G rs747071451 0.00002
NM_001182.5(ALDH7A1):c.930C>T (p.Asp310=) rs202069068 0.00002
NM_001182.5(ALDH7A1):c.1008+11C>T rs367574304 0.00001
NM_001182.5(ALDH7A1):c.1010T>G (p.Phe337Cys) rs747834606 0.00001
NM_001182.5(ALDH7A1):c.1094-14T>G rs1057521816 0.00001
NM_001182.5(ALDH7A1):c.1094-4C>T rs977039138 0.00001
NM_001182.5(ALDH7A1):c.111C>T (p.Pro37=) rs372328305 0.00001
NM_001182.5(ALDH7A1):c.114G>A (p.Gln38=) rs1045930852 0.00001
NM_001182.5(ALDH7A1):c.1176T>C (p.Gly392=) rs935431600 0.00001
NM_001182.5(ALDH7A1):c.1201-5A>G rs753508557 0.00001
NM_001182.5(ALDH7A1):c.1293G>A (p.Pro431=) rs538504116 0.00001
NM_001182.5(ALDH7A1):c.1320T>C (p.Asn440=) rs755365818 0.00001
NM_001182.5(ALDH7A1):c.1415+15A>G rs370757950 0.00001
NM_001182.5(ALDH7A1):c.1416-16C>T rs1206254811 0.00001
NM_001182.5(ALDH7A1):c.1416-5C>T rs754803091 0.00001
NM_001182.5(ALDH7A1):c.1515C>T (p.Gly505=) rs765576421 0.00001
NM_001182.5(ALDH7A1):c.192+11G>C rs529506268 0.00001
NM_001182.5(ALDH7A1):c.193-12T>G rs770632526 0.00001
NM_001182.5(ALDH7A1):c.222C>T (p.Asn74=) rs1007871645 0.00001
NM_001182.5(ALDH7A1):c.309A>C (p.Ala103=) rs1751590460 0.00001
NM_001182.5(ALDH7A1):c.312+15T>C rs1386867089 0.00001
NM_001182.5(ALDH7A1):c.393+12T>C rs1057522818 0.00001
NM_001182.5(ALDH7A1):c.394-5T>C rs1299570489 0.00001
NM_001182.5(ALDH7A1):c.432G>A (p.Val144=) rs768899130 0.00001
NM_001182.5(ALDH7A1):c.450T>C (p.Tyr150=) rs375095250 0.00001
NM_001182.5(ALDH7A1):c.517+8A>G rs925234919 0.00001
NM_001182.5(ALDH7A1):c.531A>G (p.Ala177=) rs1418827153 0.00001
NM_001182.5(ALDH7A1):c.573C>T (p.Ile191=) rs1554100447 0.00001
NM_001182.5(ALDH7A1):c.606T>C (p.Gly202=) rs1438903755 0.00001
NM_001182.5(ALDH7A1):c.621C>T (p.Ile207=) rs758236544 0.00001
NM_001182.5(ALDH7A1):c.651-10C>A rs1750933772 0.00001
NM_001182.5(ALDH7A1):c.651-5T>C rs770931075 0.00001
NM_001182.5(ALDH7A1):c.696-6T>G rs372348364 0.00001
NM_001182.5(ALDH7A1):c.774-12G>T rs1750662606 0.00001
NM_001182.5(ALDH7A1):c.807G>A (p.Leu269=) rs774216010 0.00001
NM_001182.5(ALDH7A1):c.871+7G>A rs201353024 0.00001
NM_001182.5(ALDH7A1):c.903T>C (p.Asn301=) rs1355403944 0.00001
NM_001182.5(ALDH7A1):c.913+11C>T rs760906798 0.00001
NM_001182.5(ALDH7A1):c.914-4T>G rs771187992 0.00001
NM_001182.5(ALDH7A1):c.999G>A (p.Ala333=) rs563675719 0.00001
NM_001182.5(ALDH7A1):c.1008+17A>G
NM_001182.5(ALDH7A1):c.1008+20C>T rs1243510576
NM_001182.5(ALDH7A1):c.1009-10T>C rs2112762955
NM_001182.5(ALDH7A1):c.1009-14C>T rs1057520220
NM_001182.5(ALDH7A1):c.1009-18A>G
NM_001182.5(ALDH7A1):c.1009-7C>T
NM_001182.5(ALDH7A1):c.1009-9T>C
NM_001182.5(ALDH7A1):c.1023C>T (p.Ser341=) rs750258751
NM_001182.5(ALDH7A1):c.1029T>C (p.His343=) rs1581364693
NM_001182.5(ALDH7A1):c.1035G>A (p.Glu345=)
NM_001182.5(ALDH7A1):c.1047A>G (p.Arg349=) rs1750181426
NM_001182.5(ALDH7A1):c.1080G>A (p.Gly360=)
NM_001182.5(ALDH7A1):c.1083C>T (p.Asn361=)
NM_001182.5(ALDH7A1):c.1086A>G (p.Pro362=)
NM_001182.5(ALDH7A1):c.1093+13T>G
NM_001182.5(ALDH7A1):c.1093+14T>G
NM_001182.5(ALDH7A1):c.1093+14_1093+16del
NM_001182.5(ALDH7A1):c.1093+19T>C
NM_001182.5(ALDH7A1):c.1094-11TC[3] rs965974461
NM_001182.5(ALDH7A1):c.1094-13T>C
NM_001182.5(ALDH7A1):c.1094-16C>T
NM_001182.5(ALDH7A1):c.1094-18T>G
NM_001182.5(ALDH7A1):c.1094-20C>A
NM_001182.5(ALDH7A1):c.1094-20C>T
NM_001182.5(ALDH7A1):c.1094-5del
NM_001182.5(ALDH7A1):c.1094-6C>T rs1222190381
NM_001182.5(ALDH7A1):c.1094-9T>G
NM_001182.5(ALDH7A1):c.1110G>T (p.Gly370=)
NM_001182.5(ALDH7A1):c.1131A>C (p.Ala377=)
NM_001182.5(ALDH7A1):c.1134G>A (p.Val378=)
NM_001182.5(ALDH7A1):c.1152A>G (p.Ala384=)
NM_001182.5(ALDH7A1):c.1170A>G (p.Lys390=)
NM_001182.5(ALDH7A1):c.117T>C (p.Tyr39=)
NM_001182.5(ALDH7A1):c.1185G>A (p.Val395=)
NM_001182.5(ALDH7A1):c.1188C>A (p.Val396=)
NM_001182.5(ALDH7A1):c.1194G>A (p.Gly398=)
NM_001182.5(ALDH7A1):c.1200+10G>T
NM_001182.5(ALDH7A1):c.1200+11C>T
NM_001182.5(ALDH7A1):c.1200+12T>G rs2112759721
NM_001182.5(ALDH7A1):c.1200+15G>A
NM_001182.5(ALDH7A1):c.1200+17G>A
NM_001182.5(ALDH7A1):c.1200+17G>C
NM_001182.5(ALDH7A1):c.1200+20C>G
NM_001182.5(ALDH7A1):c.1201-11C>A
NM_001182.5(ALDH7A1):c.1201-12T>C
NM_001182.5(ALDH7A1):c.1201-5A>C
NM_001182.5(ALDH7A1):c.1201-5A>T
NM_001182.5(ALDH7A1):c.1212C>T (p.Arg404=)
NM_001182.5(ALDH7A1):c.1224T>C (p.Tyr408=) rs121912710
NM_001182.5(ALDH7A1):c.1233G>T (p.Pro411=)
NM_001182.5(ALDH7A1):c.1260T>C (p.Asp420=)
NM_001182.5(ALDH7A1):c.1263G>T (p.Ala421=)
NM_001182.5(ALDH7A1):c.126G>T (p.Leu42=)
NM_001182.5(ALDH7A1):c.1272A>C (p.Ala424=)
NM_001182.5(ALDH7A1):c.1278A>G (p.Thr426=)
NM_001182.5(ALDH7A1):c.1281G>A (p.Glu427=)
NM_001182.5(ALDH7A1):c.1284T>C (p.Thr428=)
NM_001182.5(ALDH7A1):c.1290T>A (p.Ala430=)
NM_001182.5(ALDH7A1):c.1302T>C (p.Tyr434=)
NM_001182.5(ALDH7A1):c.1314C>T (p.Phe438=)
NM_001182.5(ALDH7A1):c.1317+11A>G rs1361823176
NM_001182.5(ALDH7A1):c.1317+16G>A
NM_001182.5(ALDH7A1):c.1317+20G>C rs17597559
NM_001182.5(ALDH7A1):c.1318-13TC[2]
NM_001182.5(ALDH7A1):c.1318-18del
NM_001182.5(ALDH7A1):c.1318-19C>T
NM_001182.5(ALDH7A1):c.1318-7C>T
NM_001182.5(ALDH7A1):c.1338A>C (p.Ala446=) rs2112752997
NM_001182.5(ALDH7A1):c.1338A>G (p.Ala446=)
NM_001182.5(ALDH7A1):c.1347T>C (p.Asn449=) rs1342037208
NM_001182.5(ALDH7A1):c.1359G>A (p.Gln453=)
NM_001182.5(ALDH7A1):c.1362A>G (p.Gly454=) rs1749946158
NM_001182.5(ALDH7A1):c.1368A>G (p.Ser456=)
NM_001182.5(ALDH7A1):c.1380T>C (p.Phe460=)
NM_001182.5(ALDH7A1):c.138G>A (p.Gly46=) rs770975428
NM_001182.5(ALDH7A1):c.138G>T (p.Gly46=)
NM_001182.5(ALDH7A1):c.1392G>C (p.Leu464=)
NM_001182.5(ALDH7A1):c.1415+11G>A
NM_001182.5(ALDH7A1):c.1415+13_1415+14del
NM_001182.5(ALDH7A1):c.1415+15A>C
NM_001182.5(ALDH7A1):c.1415+8T>C rs1182943543
NM_001182.5(ALDH7A1):c.1416-12C>T rs905495939
NM_001182.5(ALDH7A1):c.1416-13C>A
NM_001182.5(ALDH7A1):c.1416-14C>T
NM_001182.5(ALDH7A1):c.1416-19T>C
NM_001182.5(ALDH7A1):c.1416-20A>G
NM_001182.5(ALDH7A1):c.1428A>G (p.Ser476=)
NM_001182.5(ALDH7A1):c.1437C>T (p.Gly479=)
NM_001182.5(ALDH7A1):c.1443A>G (p.Val481=) rs2112752412
NM_001182.5(ALDH7A1):c.1452C>T (p.Asn484=)
NM_001182.5(ALDH7A1):c.1461A>C (p.Thr487=)
NM_001182.5(ALDH7A1):c.1464T>C (p.Ser488=)
NM_001182.5(ALDH7A1):c.1470T>C (p.Ala490=) rs1057520651
NM_001182.5(ALDH7A1):c.1489+10G>T rs2112752276
NM_001182.5(ALDH7A1):c.1489+12A>T
NM_001182.5(ALDH7A1):c.1489+15A>G
NM_001182.5(ALDH7A1):c.1489+7A>G
NM_001182.5(ALDH7A1):c.1490-15T>A
NM_001182.5(ALDH7A1):c.1490-19T>C
NM_001182.5(ALDH7A1):c.1490-20A>T
NM_001182.5(ALDH7A1):c.1490-4C>T
NM_001182.5(ALDH7A1):c.1490-6C>T
NM_001182.5(ALDH7A1):c.1490-7T>C rs1057522259
NM_001182.5(ALDH7A1):c.1491A>G (p.Gly497=) rs764688935
NM_001182.5(ALDH7A1):c.1509T>C (p.Gly503=)
NM_001182.5(ALDH7A1):c.1512T>C (p.Gly504=)
NM_001182.5(ALDH7A1):c.1518G>A (p.Arg506=)
NM_001182.5(ALDH7A1):c.1527C>G (p.Gly509=)
NM_001182.5(ALDH7A1):c.1530T>C (p.Ser510=)
NM_001182.5(ALDH7A1):c.1536C>A (p.Ala512=)
NM_001182.5(ALDH7A1):c.1536C>T (p.Ala512=) rs1015790945
NM_001182.5(ALDH7A1):c.1548C>T (p.Tyr516=)
NM_001182.5(ALDH7A1):c.1557G>A (p.Arg519=)
NM_001182.5(ALDH7A1):c.1565+12C>G
NM_001182.5(ALDH7A1):c.1565+18G>A
NM_001182.5(ALDH7A1):c.1565+7A>G
NM_001182.5(ALDH7A1):c.1566-14T>A rs1749740538
NM_001182.5(ALDH7A1):c.1566-14dup rs1396199299
NM_001182.5(ALDH7A1):c.1566-20C>A
NM_001182.5(ALDH7A1):c.1566-20C>T
NM_001182.5(ALDH7A1):c.1566-8C>T
NM_001182.5(ALDH7A1):c.156G>A (p.Glu52=) rs1331857054
NM_001182.5(ALDH7A1):c.162G>A (p.Val54=)
NM_001182.5(ALDH7A1):c.165T>C (p.Tyr55=)
NM_001182.5(ALDH7A1):c.168T>C (p.Asn56=)
NM_001182.5(ALDH7A1):c.180A>C (p.Gly60=)
NM_001182.5(ALDH7A1):c.192+10C>G
NM_001182.5(ALDH7A1):c.192+11G>T rs529506268
NM_001182.5(ALDH7A1):c.192+17G>A
NM_001182.5(ALDH7A1):c.193-15T>A
NM_001182.5(ALDH7A1):c.193-17C>T rs2112817301
NM_001182.5(ALDH7A1):c.193-20C>A
NM_001182.5(ALDH7A1):c.193-22ATC[2]
NM_001182.5(ALDH7A1):c.201G>A (p.Thr67=) rs747643987
NM_001182.5(ALDH7A1):c.201G>T (p.Thr67=) rs747643987
NM_001182.5(ALDH7A1):c.207T>C (p.Tyr69=)
NM_001182.5(ALDH7A1):c.213T>C (p.Pro71=) rs1406194717
NM_001182.5(ALDH7A1):c.21G>A (p.Ala7=)
NM_001182.5(ALDH7A1):c.21G>T (p.Ala7=)
NM_001182.5(ALDH7A1):c.22C>T (p.Leu8=)
NM_001182.5(ALDH7A1):c.246+15G>C rs975277958
NM_001182.5(ALDH7A1):c.246+16_246+17insTGTT
NM_001182.5(ALDH7A1):c.246+16_246+17insTT
NM_001182.5(ALDH7A1):c.246+18_246+19insTGTA
NM_001182.5(ALDH7A1):c.246+19G>T rs2112817029
NM_001182.5(ALDH7A1):c.246+4AG[3]
NM_001182.5(ALDH7A1):c.246+6_246+7insAT
NM_001182.5(ALDH7A1):c.246+7GT[7]
NM_001182.5(ALDH7A1):c.246+7_246+8insGAGT
NM_001182.5(ALDH7A1):c.246+7_246+8insGAGTGT
NM_001182.5(ALDH7A1):c.246+7_246+8insGAGTGTGT rs1751619608
NM_001182.5(ALDH7A1):c.246+7_246+8insGAGTGTGTGT
NM_001182.5(ALDH7A1):c.246+8_246+9insGTAT
NM_001182.5(ALDH7A1):c.247-13A>T
NM_001182.5(ALDH7A1):c.247-13dup
NM_001182.5(ALDH7A1):c.247-16C>T
NM_001182.5(ALDH7A1):c.247-18C>T
NM_001182.5(ALDH7A1):c.24G>C (p.Leu8=)
NM_001182.5(ALDH7A1):c.24G>T (p.Leu8=)
NM_001182.5(ALDH7A1):c.276A>G (p.Val92=)
NM_001182.5(ALDH7A1):c.27T>C (p.Cys9=)
NM_001182.5(ALDH7A1):c.294A>G (p.Ala98=)
NM_001182.5(ALDH7A1):c.30G>A (p.Val10=)
NM_001182.5(ALDH7A1):c.312+11C>A
NM_001182.5(ALDH7A1):c.312+11C>G
NM_001182.5(ALDH7A1):c.312+12C>G
NM_001182.5(ALDH7A1):c.313-10C>A rs567441242
NM_001182.5(ALDH7A1):c.313-10C>T
NM_001182.5(ALDH7A1):c.313-14C>T
NM_001182.5(ALDH7A1):c.313-15G>T
NM_001182.5(ALDH7A1):c.315T>C (p.Ile105=)
NM_001182.5(ALDH7A1):c.31_33delinsGAG (p.His11Glu) rs796052269
NM_001182.5(ALDH7A1):c.321T>C (p.Ala107=) rs1325708741
NM_001182.5(ALDH7A1):c.330A>T (p.Arg110=)
NM_001182.5(ALDH7A1):c.345A>G (p.Arg115=)
NM_001182.5(ALDH7A1):c.36T>C (p.Ala12=)
NM_001182.5(ALDH7A1):c.382C>T (p.Leu128=)
NM_001182.5(ALDH7A1):c.384A>G (p.Leu128=) rs1392808647
NM_001182.5(ALDH7A1):c.387A>C (p.Gly129=) rs1467521069
NM_001182.5(ALDH7A1):c.393+16A>C
NM_001182.5(ALDH7A1):c.393+17G>T
NM_001182.5(ALDH7A1):c.393+18T>C
NM_001182.5(ALDH7A1):c.393+18dup
NM_001182.5(ALDH7A1):c.393+19A>G
NM_001182.5(ALDH7A1):c.393+20T>A
NM_001182.5(ALDH7A1):c.393+9T>G
NM_001182.5(ALDH7A1):c.394-16C>T
NM_001182.5(ALDH7A1):c.394-18G>A
NM_001182.5(ALDH7A1):c.396G>A (p.Val132=)
NM_001182.5(ALDH7A1):c.423G>C (p.Val141=) rs199653162
NM_001182.5(ALDH7A1):c.483A>G (p.Ser161=) rs1751224346
NM_001182.5(ALDH7A1):c.492T>C (p.Ile164=)
NM_001182.5(ALDH7A1):c.495A>T (p.Gly165=)
NM_001182.5(ALDH7A1):c.517+13A>G
NM_001182.5(ALDH7A1):c.517+14T>C
NM_001182.5(ALDH7A1):c.517+16A>G
NM_001182.5(ALDH7A1):c.517+17G>A rs1371460947
NM_001182.5(ALDH7A1):c.517+9T>C
NM_001182.5(ALDH7A1):c.518-10_518-9del rs1554100459
NM_001182.5(ALDH7A1):c.518-11T>C rs1390954678
NM_001182.5(ALDH7A1):c.518-17C>A
NM_001182.5(ALDH7A1):c.518-18T>A
NM_001182.5(ALDH7A1):c.518-19A>G
NM_001182.5(ALDH7A1):c.518-4T>C rs2112794764
NM_001182.5(ALDH7A1):c.518-8G>T
NM_001182.5(ALDH7A1):c.51G>A (p.Lys17=)
NM_001182.5(ALDH7A1):c.588C>T (p.Phe196=)
NM_001182.5(ALDH7A1):c.612C>T (p.Asn204=)
NM_001182.5(ALDH7A1):c.636A>G (p.Gly212=) rs1750999639
NM_001182.5(ALDH7A1):c.63T>G (p.Pro21=)
NM_001182.5(ALDH7A1):c.642C>G (p.Val214=)
NM_001182.5(ALDH7A1):c.650+14A>C
NM_001182.5(ALDH7A1):c.650+14A>T
NM_001182.5(ALDH7A1):c.650+19C>T
NM_001182.5(ALDH7A1):c.650+7C>G
NM_001182.5(ALDH7A1):c.651-12A>G
NM_001182.5(ALDH7A1):c.651-25_651-20del rs781687339
NM_001182.5(ALDH7A1):c.651-6_651-4del
NM_001182.5(ALDH7A1):c.663A>C (p.Pro221=)
NM_001182.5(ALDH7A1):c.669T>C (p.Thr223=) rs1335654711
NM_001182.5(ALDH7A1):c.695+11G>A
NM_001182.5(ALDH7A1):c.695+12T>G
NM_001182.5(ALDH7A1):c.695+14G>T
NM_001182.5(ALDH7A1):c.695+14del
NM_001182.5(ALDH7A1):c.695+9A>G rs896157730
NM_001182.5(ALDH7A1):c.696-16G>A
NM_001182.5(ALDH7A1):c.696-16G>T
NM_001182.5(ALDH7A1):c.696-19A>G
NM_001182.5(ALDH7A1):c.696-4C>G
NM_001182.5(ALDH7A1):c.69C>T (p.Ser23=) rs763900156
NM_001182.5(ALDH7A1):c.705C>T (p.Ala235=)
NM_001182.5(ALDH7A1):c.723C>T (p.Asn241=)
NM_001182.5(ALDH7A1):c.726G>A (p.Lys242=) rs1420938162
NM_001182.5(ALDH7A1):c.732T>C (p.Pro244=) rs1437011091
NM_001182.5(ALDH7A1):c.750G>A (p.Leu250=) rs2112785354
NM_001182.5(ALDH7A1):c.765A>C (p.Ala255=)
NM_001182.5(ALDH7A1):c.771T>A (p.Ile257=) rs1057520469
NM_001182.5(ALDH7A1):c.771T>C (p.Ile257=) rs1057520469
NM_001182.5(ALDH7A1):c.773+11A>T
NM_001182.5(ALDH7A1):c.773+15T>C
NM_001182.5(ALDH7A1):c.773+7T>C
NM_001182.5(ALDH7A1):c.773+8A>C
NM_001182.5(ALDH7A1):c.774-14C>T
NM_001182.5(ALDH7A1):c.774-17T>C
NM_001182.5(ALDH7A1):c.774-21_774-18dup
NM_001182.5(ALDH7A1):c.774-9C>G
NM_001182.5(ALDH7A1):c.78C>A (p.Ala26=)
NM_001182.5(ALDH7A1):c.78C>T (p.Ala26=)
NM_001182.5(ALDH7A1):c.807G>C (p.Leu269=)
NM_001182.5(ALDH7A1):c.808C>T (p.Leu270=) rs1173084371
NM_001182.5(ALDH7A1):c.810G>A (p.Leu270=)
NM_001182.5(ALDH7A1):c.810G>C (p.Leu270=)
NM_001182.5(ALDH7A1):c.81C>T (p.Ala27=)
NM_001182.5(ALDH7A1):c.84C>T (p.Phe28=)
NM_001182.5(ALDH7A1):c.871+15T>G
NM_001182.5(ALDH7A1):c.871+19A>G rs767268119
NM_001182.5(ALDH7A1):c.871+8T>A
NM_001182.5(ALDH7A1):c.872-16A>T
NM_001182.5(ALDH7A1):c.872-18T>C
NM_001182.5(ALDH7A1):c.872-20T>C
NM_001182.5(ALDH7A1):c.872-6T>C rs1223691153
NM_001182.5(ALDH7A1):c.891T>G (p.Leu297=)
NM_001182.5(ALDH7A1):c.909T>A (p.Ile303=)
NM_001182.5(ALDH7A1):c.913+10C>T
NM_001182.5(ALDH7A1):c.913+12T>C
NM_001182.5(ALDH7A1):c.913+9G>A rs1750386871
NM_001182.5(ALDH7A1):c.914-13G>C rs148928130
NM_001182.5(ALDH7A1):c.914-16T>C
NM_001182.5(ALDH7A1):c.914-19G>A
NM_001182.5(ALDH7A1):c.921A>G (p.Glu307=)
NM_001182.5(ALDH7A1):c.948A>G (p.Pro316=)
NM_001182.5(ALDH7A1):c.951A>G (p.Ser317=)
NM_001182.5(ALDH7A1):c.966T>C (p.Ala322=)
NM_001182.5(ALDH7A1):c.987G>A (p.Arg329=)
NM_001182.5(ALDH7A1):c.996T>C (p.Thr332=)
NM_001182.5(ALDH7A1):c.99C>T (p.Leu33=) rs1418934195
NM_001182.5(ALDH7A1):c.9C>A (p.Arg3=) rs770033340
NM_001182.5(ALDH7A1):c.9C>T (p.Arg3=) rs770033340

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.