ClinVar Miner

List of variants in gene ALDH5A1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_001080.3(ALDH5A1):c.355-253T>G rs2744582 0.91209
NM_001080.3(ALDH5A1):c.355-267A>G rs2744581 0.51505
NM_001080.3(ALDH5A1):c.610-67A>G rs2744583 0.47763
NM_001080.3(ALDH5A1):c.609+201G>T rs3765311 0.46034
NM_001080.3(ALDH5A1):c.*253C>A rs1054899 0.42316
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118 0.35507
NM_001080.3(ALDH5A1):c.726+141G>A rs2744584 0.26637
NM_001080.3(ALDH5A1):c.726+8G>A rs2817220 0.25132
NM_001080.3(ALDH5A1):c.439-238del rs36013748 0.22754
NM_001080.3(ALDH5A1):c.1173+21G>A rs67603730 0.17129
NM_001080.3(ALDH5A1):c.727-264G>A rs57900397 0.17100
NM_001080.3(ALDH5A1):c.1403-230G>C rs2744601 0.13026
NM_001080.3(ALDH5A1):c.871-57C>T rs9461035 0.08541
NM_001080.3(ALDH5A1):c.1403-276G>T rs73386193 0.08197
NM_001080.3(ALDH5A1):c.1402+7G>A rs12211574 0.07141
NM_001080.3(ALDH5A1):c.1403-180A>T rs12200033 0.07139
NM_001080.3(ALDH5A1):c.610-5C>T rs76752785 0.04857
NM_001080.3(ALDH5A1):c.1174-143A>G rs114857861 0.03799
NM_001080.3(ALDH5A1):c.727-27G>C rs4646843 0.02967
NM_001080.3(ALDH5A1):c.1015-235G>A rs61208485 0.02734
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310 0.02518
NM_001080.3(ALDH5A1):c.354+185T>G rs12332800 0.02363
NM_001080.3(ALDH5A1):c.354+27A>G rs12332882 0.02358
NM_001080.3(ALDH5A1):c.354+63C>T rs12333186 0.02355
NM_001080.3(ALDH5A1):c.1174-132C>T rs77807345 0.02310
NM_001080.3(ALDH5A1):c.1403-212A>C rs114506776 0.02293
NM_001080.3(ALDH5A1):c.355-72T>C rs112207648 0.02114
NM_001080.3(ALDH5A1):c.355-172G>A rs112983811 0.02111
NM_001080.3(ALDH5A1):c.1402+242A>G rs79855228 0.01987
NM_001080.3(ALDH5A1):c.727-15T>C rs13362724 0.01562
NM_001080.3(ALDH5A1):c.726+3G>A rs114082057 0.01442
NM_001080.3(ALDH5A1):c.354+131G>A rs7754003 0.01385
NM_001080.3(ALDH5A1):c.870+284C>T rs142232926 0.01337
NM_001080.3(ALDH5A1):c.439-287C>T rs60623462 0.00956
NM_001080.3(ALDH5A1):c.1174-257G>A rs114333563 0.00767
NM_001080.3(ALDH5A1):c.1389T>C (p.Asp463=) rs58747567 0.00705
NM_001080.3(ALDH5A1):c.1173+289T>G rs143218838 0.00589
NM_001080.3(ALDH5A1):c.355-200G>A rs115197031 0.00461
NM_001080.3(ALDH5A1):c.727-44A>T rs774497225 0.00441
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00349
NM_001080.3(ALDH5A1):c.1402+268C>G rs116618696 0.00343
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566 0.00229
NM_001080.3(ALDH5A1):c.480C>T (p.Ser160=) rs143486700 0.00217
NM_001080.3(ALDH5A1):c.886G>A (p.Ala296Thr) rs149482918 0.00146
NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile) rs147358733 0.00105
NM_001080.3(ALDH5A1):c.1421A>C (p.Asp474Ala) rs142482046 0.00060
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=) rs148188703 0.00047
NM_001080.3(ALDH5A1):c.355-9C>G rs375453445 0.00045
NM_001080.3(ALDH5A1):c.605C>T (p.Thr202Ile) rs148733464 0.00043
NM_001080.3(ALDH5A1):c.1531G>A (p.Gly511Ser) rs377658514 0.00041
NM_001080.3(ALDH5A1):c.1474G>A (p.Val492Ile) rs151294087 0.00032
NM_001080.3(ALDH5A1):c.542C>T (p.Thr181Ile) rs147439442 0.00026
NM_001080.3(ALDH5A1):c.1344-6T>C rs368212282 0.00020
NM_001080.3(ALDH5A1):c.684G>A (p.Lys228=) rs200484487 0.00019
NM_001080.3(ALDH5A1):c.518G>A (p.Arg173His) rs369366567 0.00018
NM_001080.3(ALDH5A1):c.1080C>T (p.Phe360=) rs571602201 0.00016
NM_001080.3(ALDH5A1):c.1308T>G (p.His436Gln) rs199500997 0.00016
NM_001080.3(ALDH5A1):c.1316C>T (p.Thr439Ile) rs139633130 0.00015
NM_001080.3(ALDH5A1):c.735C>G (p.Ser245Arg) rs141430899 0.00015
NM_001080.3(ALDH5A1):c.1163C>T (p.Ala388Val) rs536355368 0.00014
NM_001080.3(ALDH5A1):c.1280A>G (p.Asn427Ser) rs149793005 0.00014
NM_001080.3(ALDH5A1):c.*7T>C rs199767765 0.00013
NM_001080.3(ALDH5A1):c.859A>G (p.Thr287Ala) rs369156704 0.00013
NM_001080.3(ALDH5A1):c.1479C>T (p.Asn493=) rs200661931 0.00010
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala) rs373320785 0.00010
NM_001080.3(ALDH5A1):c.727-13T>G rs187404409 0.00009
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu) rs375628463 0.00009
NM_001080.3(ALDH5A1):c.1597G>A (p.Gly533Arg) rs72552284 0.00008
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) rs118203982 0.00007
NM_001080.3(ALDH5A1):c.1211C>G (p.Ala404Gly) rs139719918 0.00006
NM_001080.3(ALDH5A1):c.819del (p.Asp274fs) rs778127154 0.00006
NM_001080.3(ALDH5A1):c.1169A>G (p.Glu390Gly) rs142677472 0.00005
NM_001080.3(ALDH5A1):c.1234C>T (p.Arg412Ter) rs118203983 0.00004
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met) rs768219929 0.00004
NM_001080.3(ALDH5A1):c.1558G>A (p.Gly520Ser) rs1179619995 0.00003
NM_001080.3(ALDH5A1):c.1606T>C (p.Ter536Gln) rs201484501 0.00003
NM_001080.3(ALDH5A1):c.1343+8C>T rs775916984 0.00002
NM_001080.3(ALDH5A1):c.526G>A (p.Gly176Arg) rs72552281 0.00002
NM_001080.3(ALDH5A1):c.691G>A (p.Glu231Lys) rs751888532 0.00002
NM_001080.3(ALDH5A1):c.960C>T (p.Asn320=) rs781439143 0.00002
NM_001080.3(ALDH5A1):c.1105C>T (p.Arg369Cys) rs772038058 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001080.3(ALDH5A1):c.1565A>G (p.Asp522Gly) rs777938693 0.00001
NM_001080.3(ALDH5A1):c.514C>T (p.Arg172Cys) rs551902853 0.00001
NM_001080.3(ALDH5A1):c.581C>T (p.Pro194Leu) rs1759249344 0.00001
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu) rs906284769 0.00001
NM_001080.3(ALDH5A1):c.610-2A>G rs1301821497 0.00001
NM_001080.3(ALDH5A1):c.649G>A (p.Ala217Thr) rs1064796319 0.00001
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly) rs757605946 0.00001
NM_001080.3(ALDH5A1):c.783A>G (p.Arg261=) rs761068786 0.00001
NM_001080.3(ALDH5A1):c.786G>C (p.Lys262Asn) rs766715554 0.00001
NM_001080.3(ALDH5A1):c.967_968dup (p.Gln323fs) rs747336313 0.00001
NM_001080.3(ALDH5A1):c.1014+60TG[6] rs199737070
NM_001080.3(ALDH5A1):c.1014+90GT[8] rs112834539
NM_001080.3(ALDH5A1):c.1015-201A>C rs11751325
NM_001080.3(ALDH5A1):c.1015-3C>G rs2127387935
NM_001080.3(ALDH5A1):c.1052G>T (p.Gly351Val)
NM_001080.3(ALDH5A1):c.1174-316G>A rs7768735
NM_001080.3(ALDH5A1):c.1174-85del rs4646848
NM_001080.3(ALDH5A1):c.1323dup (p.Pro442fs) rs1561879345
NM_001080.3(ALDH5A1):c.1325C>G (p.Pro442Arg) rs2127389566
NM_001080.3(ALDH5A1):c.1343+1_1343+3delinsTT rs875989801
NM_001080.3(ALDH5A1):c.1343+208dup rs199760796
NM_001080.3(ALDH5A1):c.1343+209_1343+214del rs141038864
NM_001080.3(ALDH5A1):c.1344-152G>C rs36112176
NM_001080.3(ALDH5A1):c.1344-291A>G rs116757021
NM_001080.3(ALDH5A1):c.1348G>C (p.Asp450His) rs144177566
NM_001080.3(ALDH5A1):c.1355AGG[2] (p.Glu454del) rs1759948859
NM_001080.3(ALDH5A1):c.1402+1G>T rs762290992
NM_001080.3(ALDH5A1):c.1403-279C>T rs116138573
NM_001080.3(ALDH5A1):c.1514G>A (p.Gly505Asp) rs1449304427
NM_001080.3(ALDH5A1):c.1562T>C (p.Ile521Thr) rs1475837931
NM_001080.3(ALDH5A1):c.375delinsTGGTACAATTTAATGATACA (p.Arg125_Lys126insGlyThrIleTer)
NM_001080.3(ALDH5A1):c.496T>C (p.Trp166Arg) rs2127382426
NM_001080.3(ALDH5A1):c.498del (p.Trp166fs) rs1581807379
NM_001080.3(ALDH5A1):c.503_518del (p.Ser168fs) rs2127382430
NM_001080.3(ALDH5A1):c.514C>G (p.Arg172Gly) rs551902853
NM_001080.3(ALDH5A1):c.517C>A (p.Arg173Ser) rs759155182
NM_001080.3(ALDH5A1):c.565C>G (p.Leu189Val) rs1064796918
NM_001080.3(ALDH5A1):c.566_567insTTGCCCT (p.Val190fs) rs755029414
NM_001080.3(ALDH5A1):c.588C>T (p.Gly196=) rs145208127
NM_001080.3(ALDH5A1):c.609+107A>C rs115269669
NM_001080.3(ALDH5A1):c.609+237G>A rs2817219
NM_001080.3(ALDH5A1):c.609G>T (p.Pro203=) rs142373741
NM_001080.3(ALDH5A1):c.610-152dup rs11376824
NM_001080.3(ALDH5A1):c.668G>A (p.Cys223Tyr) rs72552282
NM_001080.3(ALDH5A1):c.671C>T (p.Thr224Ile)
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=) rs113591366
NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser) rs62621664
NM_001080.3(ALDH5A1):c.727-233G>T rs111543788
NM_001080.3(ALDH5A1):c.799G>T (p.Val267Leu) rs1759546145
NM_001080.3(ALDH5A1):c.870+301A>T rs151187157

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