ClinVar Miner

List of variants in gene ALDH7A1 reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.*807C>G rs1807 0.60056
NM_001182.5(ALDH7A1):c.*2499G>A rs7715516 0.52610
NM_001182.5(ALDH7A1):c.*1749G>T rs744722 0.43746
NM_001182.5(ALDH7A1):c.*1748T>A rs744721 0.43127
NM_001182.5(ALDH7A1):c.*68A>G rs2775 0.42285
NM_001182.5(ALDH7A1):c.*726C>T rs1060857 0.37480
NM_001182.4(ALDH7A1):c.-132A>C rs900641 0.24797
NM_001182.4(ALDH7A1):c.-151C>T rs900640 0.11028
NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln) rs12514417 0.08598
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) rs60720055 0.06152
NM_001182.4(ALDH7A1):c.-60G>A rs144272515 0.03685
NM_001182.5(ALDH7A1):c.518-12T>G rs79544459 0.03492
NM_001182.5(ALDH7A1):c.*2254T>A rs76249070 0.02408
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950 0.01833
NM_001182.5(ALDH7A1):c.*1804C>T rs744723 0.01339
NM_001182.5(ALDH7A1):c.*1672A>G rs78029541 0.01247
NM_001182.5(ALDH7A1):c.*1741T>A rs744720 0.01233
NM_001182.5(ALDH7A1):c.*1368A>T rs115645125 0.01210
NM_001182.5(ALDH7A1):c.*2512G>A rs76363408 0.00874
NM_001182.5(ALDH7A1):c.*1446G>A rs114580465 0.00797
NM_001182.5(ALDH7A1):c.*2575T>C rs114287342 0.00792
NM_001182.5(ALDH7A1):c.*2423C>T rs114575585 0.00777
NM_001182.4(ALDH7A1):c.-117G>T rs146562077 0.00663
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_001182.5(ALDH7A1):c.*1730C>T rs185960737 0.00328
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.*2126G>A rs115168957 0.00188
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_001182.5(ALDH7A1):c.*1288A>G rs190996922 0.00103
NM_001182.4(ALDH7A1):c.-29T>C rs556650006 0.00100
NM_001182.5(ALDH7A1):c.*2549G>C rs556404419 0.00067
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.*2492C>T rs768166252 0.00035
NM_001182.5(ALDH7A1):c.*1484T>C rs886059841 0.00029
NM_001182.5(ALDH7A1):c.*2603G>A rs74415886 0.00025
NM_001182.5(ALDH7A1):c.*1836C>A rs763990036 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001182.5(ALDH7A1):c.8G>A (p.Arg3His) rs759866910 0.00022
NM_001182.5(ALDH7A1):c.*2568_*2569dup rs771970643 0.00019
NM_001182.5(ALDH7A1):c.*641G>A rs372065850 0.00019
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.*65G>A rs886059848 0.00006
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.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.1017T>C (p.His339=) rs200394848 0.00004
NM_001182.5(ALDH7A1):c.1210C>T (p.Arg404Cys) rs181287032 0.00004
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 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.394-15G>A rs766287925 0.00003
NM_001182.5(ALDH7A1):c.56C>T (p.Ser19Phe) rs566243475 0.00003
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351 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.232G>A (p.Ala78Thr) rs750569691 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.119C>T (p.Ala40Val) rs745385277 0.00001
NM_001182.5(ALDH7A1):c.1415+15A>G rs370757950 0.00001
NM_001182.5(ALDH7A1):c.1566-4C>G rs376308594 0.00001
NM_001182.5(ALDH7A1):c.222C>T (p.Asn74=) rs1007871645 0.00001
NM_001182.5(ALDH7A1):c.500C>T (p.Pro167Leu) rs1276294117 0.00001
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.*1702del rs5871218
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.*2997dup rs5871217
NM_001182.5(ALDH7A1):c.*3022T>C rs2035471
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.*818G>A rs1138005
NM_001182.5(ALDH7A1):c.*898_*900del rs543290589
NM_001182.5(ALDH7A1):c.141_142insA (p.Arg48fs) rs1296037862
NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr) rs886059849
NM_001182.5(ALDH7A1):c.1515C>A (p.Gly505=) rs765576421
NM_001182.5(ALDH7A1):c.1536C>T (p.Ala512=) rs1015790945
NM_001182.5(ALDH7A1):c.1554A>G (p.Arg518=) rs1749785160
NM_001182.5(ALDH7A1):c.170G>C (p.Gly57Ala) rs1751695413
NM_001182.5(ALDH7A1):c.201G>T (p.Thr67=) rs747643987
NM_001182.5(ALDH7A1):c.244del (p.Gln82fs) rs1317880376
NM_001182.5(ALDH7A1):c.313-15G>A rs201720741
NM_001182.5(ALDH7A1):c.423G>C (p.Val141=) rs199653162
NM_001182.5(ALDH7A1):c.518-8G>A rs886059850
NM_001182.5(ALDH7A1):c.8G>T (p.Arg3Leu) rs759866910

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