ClinVar Miner

List of variants in gene ALDH7A1 reported as pathogenic for epilepsy

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708 0.00010
NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg) rs556400964 0.00004
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 0.00004
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp) rs370624118 0.00004
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=) rs201948406 0.00004
NM_001182.5(ALDH7A1):c.965C>T (p.Ala322Val) rs777483675 0.00004
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu) rs151107837 0.00003
NM_001182.5(ALDH7A1):c.589C>T (p.Pro197Ser) rs779652673 0.00003
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351 0.00003
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) rs754449549 0.00002
NM_001182.5(ALDH7A1):c.1411_1412insG (p.Leu471fs) rs772766995 0.00002
NM_001182.5(ALDH7A1):c.241C>T (p.Arg81Ter) rs757377110 0.00002
NM_001182.5(ALDH7A1):c.332G>A (p.Gly111Glu) rs994001880 0.00002
NM_001182.5(ALDH7A1):c.503_506del (p.Ile168fs) rs1064794241 0.00002
NM_001182.5(ALDH7A1):c.584A>G (p.Asn195Ser) rs372660425 0.00002
NM_001182.5(ALDH7A1):c.1003C>T (p.Arg335Ter) rs1015686016 0.00001
NM_001182.5(ALDH7A1):c.1008+1G>A rs1482167835 0.00001
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys) rs1471249688 0.00001
NM_001182.5(ALDH7A1):c.1088G>A (p.Trp363Ter) rs781254582 0.00001
NM_001182.5(ALDH7A1):c.1200+1G>T rs1217642695 0.00001
NM_001182.5(ALDH7A1):c.1477G>T (p.Gly493Ter) rs767756650 0.00001
NM_001182.5(ALDH7A1):c.1489+5G>A rs368820286 0.00001
NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys) rs200102503 0.00001
NM_001182.5(ALDH7A1):c.1565+1G>T rs1064793830 0.00001
NM_001182.5(ALDH7A1):c.1566-1G>T rs140845195 0.00001
NM_001182.5(ALDH7A1):c.246+1G>A rs764588746 0.00001
NM_001182.5(ALDH7A1):c.312+1G>A rs199497486 0.00001
NM_001182.5(ALDH7A1):c.530C>A (p.Ala177Glu) rs764417585 0.00001
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645 0.00001
NM_001182.5(ALDH7A1):c.651-3_651-1del rs1337742915 0.00001
NM_001182.5(ALDH7A1):c.796C>T (p.Arg266Ter) rs1270423610 0.00001
NM_001182.5(ALDH7A1):c.901_902del (p.Asn301fs) rs1064794240 0.00001
NM_001182.5(ALDH7A1):c.950C>T (p.Ser317Leu) rs148052962 0.00001
NM_001182.5(ALDH7A1):c.984del (p.Arg329fs) rs1275490470 0.00001
NC_000005.10:g.(?_126575400)_(126575484_?)del
NC_000005.10:g.(?_126582831)_(126584032_?)del
NC_000005.9:g.(?_125880657)_(125891727_?)del
NC_000005.9:g.(?_125880657)_(125896836_?)del
NC_000005.9:g.(?_125880657)_(125930890_?)del
NC_000005.9:g.(?_125881996)_(125882111_?)del
NC_000005.9:g.(?_125889959)_(125891727_?)del
NC_000005.9:g.(?_125889959)_(125896836_?)del
NC_000005.9:g.(?_125911092)_(125912923_?)del
NC_000005.9:g.(?_125912751)_(125912923_?)del
NC_000005.9:g.(?_125928336)_(125930890_?)del
NC_000005.9:g.(?_125929344)_(125930707_?)del
NC_000005.9:g.(?_125930679)_(125930890_?)del
NM_001182.5(ALDH7A1):c.1061A>C (p.Tyr354Ser)
NM_001182.5(ALDH7A1):c.1072C>T (p.Arg358Ter) rs768233031
NM_001182.5(ALDH7A1):c.1092dup (p.Pro365_Asn366insTer)
NM_001182.5(ALDH7A1):c.1093+1G>A rs794727058
NM_001182.5(ALDH7A1):c.1093+2T>C
NM_001182.5(ALDH7A1):c.1112C>T (p.Pro371Leu)
NM_001182.5(ALDH7A1):c.112C>T (p.Gln38Ter)
NM_001182.5(ALDH7A1):c.1171G>T (p.Glu391Ter)
NM_001182.5(ALDH7A1):c.1175del (p.Gly392fs)
NM_001182.5(ALDH7A1):c.1192G>A (p.Gly398Arg) rs1347421419
NM_001182.5(ALDH7A1):c.1192G>C (p.Gly398Arg) rs1347421419
NM_001182.5(ALDH7A1):c.1192G>T (p.Gly398Trp)
NM_001182.5(ALDH7A1):c.1193G>T (p.Gly398Val) rs864622557
NM_001182.5(ALDH7A1):c.1196G>T (p.Gly399Val) rs1750101998
NM_001182.5(ALDH7A1):c.1200+1G>C
NM_001182.5(ALDH7A1):c.1216G>A (p.Gly406Arg)
NM_001182.5(ALDH7A1):c.1224T>G (p.Tyr408Ter) rs121912710
NM_001182.5(ALDH7A1):c.1241dup (p.Thr415fs)
NM_001182.5(ALDH7A1):c.1280A>G (p.Glu427Gly) rs1311982393
NM_001182.5(ALDH7A1):c.1281G>T (p.Glu427Asp) rs796052271
NM_001182.5(ALDH7A1):c.1301_1302del (p.Tyr434fs) rs753671880
NM_001182.5(ALDH7A1):c.130G>T (p.Glu44Ter) rs2112820022
NM_001182.5(ALDH7A1):c.1327G>T (p.Glu443Ter)
NM_001182.5(ALDH7A1):c.1344T>A (p.Asn448Lys)
NM_001182.5(ALDH7A1):c.1348G>T (p.Glu450Ter) rs1749947130
NM_001182.5(ALDH7A1):c.1373G>A (p.Ser458Asn)
NM_001182.5(ALDH7A1):c.1375A>T (p.Ile459Phe) rs186558364
NM_001182.5(ALDH7A1):c.1412_1415+9delinsGTTGGG rs1749943369
NM_001182.5(ALDH7A1):c.1415+1G>T
NM_001182.5(ALDH7A1):c.141_142insA (p.Arg48fs) rs1296037862
NM_001182.5(ALDH7A1):c.1432T>A (p.Cys478Ser)
NM_001182.5(ALDH7A1):c.1468del (p.Ala490fs) rs796052267
NM_001182.5(ALDH7A1):c.1483G>A (p.Ala495Thr) rs1749930972
NM_001182.5(ALDH7A1):c.1489+2T>C
NM_001182.5(ALDH7A1):c.1524dup (p.Gly509fs)
NM_001182.5(ALDH7A1):c.1531G>A (p.Asp511Asn)
NM_001182.5(ALDH7A1):c.1553G>C (p.Arg518Thr)
NM_001182.5(ALDH7A1):c.1559C>T (p.Ser520Phe) rs1554097854
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs) rs387906574
NM_001182.5(ALDH7A1):c.159C>T (p.Gly53=)
NM_001182.5(ALDH7A1):c.177G>A (p.Trp59Ter) rs1064794242
NM_001182.5(ALDH7A1):c.187G>T (p.Gly63Ter) rs760636660
NM_001182.5(ALDH7A1):c.191_192dup (p.Val65fs) rs796052270
NM_001182.5(ALDH7A1):c.192+3A>T rs773814169
NM_001182.5(ALDH7A1):c.234_235del (p.Arg79fs)
NM_001182.5(ALDH7A1):c.239T>G (p.Val80Gly)
NM_001182.5(ALDH7A1):c.244del (p.Gln82fs) rs1317880376
NM_001182.5(ALDH7A1):c.285_286insG (p.Arg96fs) rs758414053
NM_001182.5(ALDH7A1):c.296G>A (p.Trp99Ter)
NM_001182.5(ALDH7A1):c.312+1G>T
NM_001182.5(ALDH7A1):c.312+2T>A rs1561672504
NM_001182.5(ALDH7A1):c.312+2T>G
NM_001182.5(ALDH7A1):c.329GAG[1] (p.Gly111del)
NM_001182.5(ALDH7A1):c.388_518-1428del
NM_001182.5(ALDH7A1):c.393+2T>G
NM_001182.5(ALDH7A1):c.442C>T (p.Gln148Ter)
NM_001182.5(ALDH7A1):c.500del (p.Pro167fs)
NM_001182.5(ALDH7A1):c.509C>T (p.Pro170Leu) rs2112802656
NM_001182.5(ALDH7A1):c.518-1G>C rs779494572
NM_001182.5(ALDH7A1):c.532_542del (p.Leu178fs) rs765119568
NM_001182.5(ALDH7A1):c.538dup (p.Glu180fs) rs2112794702
NM_001182.5(ALDH7A1):c.596C>T (p.Ala199Val) rs121912709
NM_001182.5(ALDH7A1):c.605G>A (p.Gly202Asp)
NM_001182.5(ALDH7A1):c.608G>A (p.Trp203Ter)
NM_001182.5(ALDH7A1):c.621_624del (p.Ile207_Ala208insTer)
NM_001182.5(ALDH7A1):c.692C>G (p.Thr231Arg)
NM_001182.5(ALDH7A1):c.695+2T>G
NM_001182.5(ALDH7A1):c.696-1G>T
NM_001182.5(ALDH7A1):c.813_814insAC (p.Phe272fs)
NM_001182.5(ALDH7A1):c.834G>C (p.Val278=) rs201948406
NM_001182.5(ALDH7A1):c.841C>T (p.Gln281Ter) rs1170817007
NM_001182.5(ALDH7A1):c.841del (p.Gln281fs)
NM_001182.5(ALDH7A1):c.859C>T (p.Gln287Ter) rs1204010423
NM_001182.5(ALDH7A1):c.871+1G>A
NM_001182.5(ALDH7A1):c.871+5G>A
NM_001182.5(ALDH7A1):c.902A>T (p.Asn301Ile) rs121912711
NM_001182.5(ALDH7A1):c.91_92del (p.Thr31fs) rs1751700395
NM_001182.5(ALDH7A1):c.947dup (p.Ser317fs) rs778003597
NM_001182.5(ALDH7A1):c.961G>A (p.Ala321Thr) rs746212816
NM_001182.5(ALDH7A1):c.974C>G (p.Thr325Arg)
NM_001182.5(ALDH7A1):c.982C>T (p.Gln328Ter) rs1750309299
NM_001182.5(ALDH7A1):c.986G>A (p.Arg329Lys) rs864622558

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