ClinVar Miner

List of variants reported as likely benign for Ornithine aminotransferase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 271
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HGVS dbSNP gnomAD frequency
NM_000274.4(OAT):c.969C>T (p.Tyr323=) rs138895801 0.00110
NM_000274.4(OAT):c.1224T>C (p.His408=) rs201864147 0.00073
NM_000274.4(OAT):c.48C>T (p.Arg16=) rs143526711 0.00070
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe) rs1800456 0.00054
NM_000274.4(OAT):c.900+9C>A rs372834151 0.00038
NM_000274.4(OAT):c.900+17C>G rs375060243 0.00020
NM_000274.4(OAT):c.107G>C (p.Gly36Ala) rs140786333 0.00019
NM_000274.4(OAT):c.915G>T (p.Leu305=) rs1249516048 0.00018
NM_000274.4(OAT):c.772-19T>A rs201585464 0.00015
NM_000274.4(OAT):c.1160-13T>A rs372850085 0.00013
NM_000274.4(OAT):c.736C>T (p.Leu246=) rs146882296 0.00013
NM_000274.4(OAT):c.478G>A (p.Val160Met) rs148433929 0.00011
NM_000274.4(OAT):c.1015-5C>T rs764963374 0.00009
NM_000274.4(OAT):c.1110C>T (p.Ala370=) rs148325838 0.00007
NM_000274.4(OAT):c.582C>T (p.Tyr194=) rs754489812 0.00005
NM_000274.4(OAT):c.1002C>T (p.Ile334=) rs757744354 0.00004
NM_000274.4(OAT):c.1056G>A (p.Leu352=) rs766145396 0.00004
NM_000274.4(OAT):c.425-13T>C rs752220933 0.00004
NM_000274.4(OAT):c.543G>A (p.Thr181=) rs558611630 0.00004
NM_000274.4(OAT):c.772-10T>C rs759900831 0.00004
NM_000274.4(OAT):c.1113A>G (p.Val371=) rs370349040 0.00003
NM_000274.4(OAT):c.1251G>A (p.Pro417=) rs570318690 0.00003
NM_000274.4(OAT):c.303G>A (p.Leu101=) rs569605240 0.00003
NM_000274.4(OAT):c.521-7T>G rs576876835 0.00003
NM_000274.4(OAT):c.649-17T>C rs766418222 0.00003
NM_000274.4(OAT):c.649-18T>C rs752593582 0.00003
NM_000274.4(OAT):c.1014+17C>T rs759429643 0.00002
NM_000274.4(OAT):c.1245G>A (p.Ala415=) rs751449034 0.00002
NM_000274.4(OAT):c.184C>T (p.Leu62=) rs776832915 0.00002
NM_000274.4(OAT):c.477C>T (p.Thr159=) rs575839041 0.00002
NM_000274.4(OAT):c.643C>T (p.Leu215=) rs111616939 0.00002
NM_000274.4(OAT):c.771+8C>T rs113532454 0.00002
NM_000274.4(OAT):c.771+9G>C rs756798690 0.00002
NM_000274.4(OAT):c.816T>C (p.Thr272=) rs778561122 0.00002
NM_000274.4(OAT):c.900+15C>T rs369658048 0.00002
NM_000274.4(OAT):c.996G>A (p.Val332=) rs768045594 0.00002
NM_000274.4(OAT):c.1005A>G (p.Ala335=) rs763750788 0.00001
NM_000274.4(OAT):c.1014+10G>C rs185123140 0.00001
NM_000274.4(OAT):c.1137T>G (p.Ala379=) rs1390940241 0.00001
NM_000274.4(OAT):c.1160-12A>G rs892494276 0.00001
NM_000274.4(OAT):c.117C>G (p.Thr39=) rs1171989360 0.00001
NM_000274.4(OAT):c.147G>A (p.Lys49=) rs1234365587 0.00001
NM_000274.4(OAT):c.199+20G>A rs746812237 0.00001
NM_000274.4(OAT):c.200-9G>A rs1412655303 0.00001
NM_000274.4(OAT):c.225C>A (p.Gly75=) rs768034800 0.00001
NM_000274.4(OAT):c.264C>T (p.Val88=) rs1951678319 0.00001
NM_000274.4(OAT):c.322T>C (p.Leu108=) rs756421829 0.00001
NM_000274.4(OAT):c.327C>G (p.Thr109=) rs1409185490 0.00001
NM_000274.4(OAT):c.352A>G (p.Asn118Asp) rs367710098 0.00001
NM_000274.4(OAT):c.354C>T (p.Asn118=) rs532722603 0.00001
NM_000274.4(OAT):c.429G>A (p.Val143=) rs1041076477 0.00001
NM_000274.4(OAT):c.520+10A>C rs747375268 0.00001
NM_000274.4(OAT):c.520+18T>G rs778035963 0.00001
NM_000274.4(OAT):c.520+7G>A rs369858071 0.00001
NM_000274.4(OAT):c.606G>A (p.Pro202=) rs369806549 0.00001
NM_000274.4(OAT):c.615C>T (p.Asp205=) rs144823472 0.00001
NM_000274.4(OAT):c.636G>T (p.Leu212=) rs1951546849 0.00001
NM_000274.4(OAT):c.639C>T (p.Pro213=) rs773314783 0.00001
NM_000274.4(OAT):c.648+12G>A rs772528371 0.00001
NM_000274.4(OAT):c.675T>C (p.Ala225=) rs1951496845 0.00001
NM_000274.4(OAT):c.720T>C (p.Val240=) rs758197065 0.00001
NM_000274.4(OAT):c.78A>G (p.Thr26=) rs1205048472 0.00001
NM_000274.4(OAT):c.90T>C (p.Thr30=) rs1250394805 0.00001
NM_000274.4(OAT):c.939C>A (p.Thr313=) rs1263275234 0.00001
NM_000274.4(OAT):c.951G>A (p.Gly317=) rs1424302227 0.00001
NM_000274.4(OAT):c.957T>C (p.His319=) rs1162641842 0.00001
NM_000274.4(OAT):c.1008C>T (p.Ala336=)
NM_000274.4(OAT):c.1014+14C>G
NM_000274.4(OAT):c.1014+16G>A
NM_000274.4(OAT):c.1014+19A>C
NM_000274.4(OAT):c.1014+19A>G
NM_000274.4(OAT):c.1014+8C>T
NM_000274.4(OAT):c.1015-18A>C
NM_000274.4(OAT):c.1015-4G>A rs1312077418
NM_000274.4(OAT):c.1015-4G>C rs1312077418
NM_000274.4(OAT):c.1015-4G>T
NM_000274.4(OAT):c.1015-6A>C rs561800688
NM_000274.4(OAT):c.1015-6del
NM_000274.4(OAT):c.1015-9dup
NM_000274.4(OAT):c.1017T>C (p.Val339=) rs2134450954
NM_000274.4(OAT):c.102C>A (p.Val34=) rs2134491030
NM_000274.4(OAT):c.102C>T (p.Val34=)
NM_000274.4(OAT):c.1032C>T (p.Asn344=) rs2134450878
NM_000274.4(OAT):c.1035T>A (p.Leu345=) rs1951391200
NM_000274.4(OAT):c.1035T>C (p.Leu345=) rs1951391200
NM_000274.4(OAT):c.1050C>T (p.Asp350=) rs2134450807
NM_000274.4(OAT):c.1053A>G (p.Lys351=) rs757483886
NM_000274.4(OAT):c.1077A>G (p.Glu359=) rs2134450629
NM_000274.4(OAT):c.1080C>G (p.Leu360=)
NM_000274.4(OAT):c.1089A>T (p.Leu363=) rs1589697490
NM_000274.4(OAT):c.108C>T (p.Gly36=) rs2134490957
NM_000274.4(OAT):c.1104A>G (p.Val368=)
NM_000274.4(OAT):c.111T>C (p.Pro37=)
NM_000274.4(OAT):c.1125A>G (p.Gly375=) rs1589697304
NM_000274.4(OAT):c.1126T>C (p.Leu376=) rs2134450338
NM_000274.4(OAT):c.1137T>C (p.Ala379=) rs1390940241
NM_000274.4(OAT):c.1138A>G (p.Ile380Val) rs545710763
NM_000274.4(OAT):c.114A>G (p.Pro38=)
NM_000274.4(OAT):c.1155C>A (p.Thr385=) rs2134450152
NM_000274.4(OAT):c.1155C>T (p.Thr385=)
NM_000274.4(OAT):c.1159+10T>G rs1589697164
NM_000274.4(OAT):c.1159+15C>T
NM_000274.4(OAT):c.1159+16A>C
NM_000274.4(OAT):c.1160-13T>C
NM_000274.4(OAT):c.1160-15A>G
NM_000274.4(OAT):c.1160-16T>A rs2134440750
NM_000274.4(OAT):c.1160-20G>A
NM_000274.4(OAT):c.1160-43_1160-15del
NM_000274.4(OAT):c.1160-6del rs2134440702
NM_000274.4(OAT):c.1179G>A (p.Val393=)
NM_000274.4(OAT):c.1186C>A (p.Arg396=) rs121965036
NM_000274.4(OAT):c.1188A>G (p.Arg396=) rs2134440491
NM_000274.4(OAT):c.1212C>G (p.Ala404=) rs2134440359
NM_000274.4(OAT):c.1215G>A (p.Lys405=)
NM_000274.4(OAT):c.1221C>G (p.Thr407=)
NM_000274.4(OAT):c.1227C>A (p.Gly409=)
NM_000274.4(OAT):c.1227C>G (p.Gly409=)
NM_000274.4(OAT):c.1230C>T (p.Asp410=)
NM_000274.4(OAT):c.123T>C (p.Asp41=) rs376051303
NM_000274.4(OAT):c.1252C>T (p.Leu418=)
NM_000274.4(OAT):c.1254G>A (p.Leu418=)
NM_000274.4(OAT):c.126C>T (p.Asp42=)
NM_000274.4(OAT):c.1276C>A (p.Arg426=)
NM_000274.4(OAT):c.1281G>A (p.Glu427=) rs1589692099
NM_000274.4(OAT):c.1284C>G (p.Ser428=)
NM_000274.4(OAT):c.1284C>T (p.Ser428=) rs762294532
NM_000274.4(OAT):c.1293T>A (p.Ile431=) rs2134439830
NM_000274.4(OAT):c.1299C>T (p.Asn433=)
NM_000274.4(OAT):c.1305C>A (p.Thr435=) rs528039246
NM_000274.4(OAT):c.1305C>T (p.Thr435=) rs528039246
NM_000274.4(OAT):c.1309T>C (p.Leu437=)
NM_000274.4(OAT):c.1311G>A (p.Leu437=) rs1800456
NM_000274.4(OAT):c.1314T>C (p.Ser438=)
NM_000274.4(OAT):c.141A>G (p.Glu47=)
NM_000274.4(OAT):c.159C>T (p.His53=)
NM_000274.4(OAT):c.162C>T (p.Asn54=)
NM_000274.4(OAT):c.174A>G (p.Leu58=) rs1383903514
NM_000274.4(OAT):c.192A>G (p.Arg64=) rs1329587046
NM_000274.4(OAT):c.199+17T>C
NM_000274.4(OAT):c.199+18C>T
NM_000274.4(OAT):c.199+19C>A
NM_000274.4(OAT):c.199+20G>T rs746812237
NM_000274.4(OAT):c.199+20del
NM_000274.4(OAT):c.199+8T>A
NM_000274.4(OAT):c.199+9C>A
NM_000274.4(OAT):c.200-13T>A
NM_000274.4(OAT):c.200-14del rs2134479102
NM_000274.4(OAT):c.200-6T>C
NM_000274.4(OAT):c.210A>G (p.Leu70=) rs2134478994
NM_000274.4(OAT):c.219A>C (p.Val73=)
NM_000274.4(OAT):c.228A>G (p.Arg76=)
NM_000274.4(OAT):c.240C>T (p.Asp80=) rs2134478924
NM_000274.4(OAT):c.24G>A (p.Leu8=) rs1383131322
NM_000274.4(OAT):c.258T>C (p.Ser86=)
NM_000274.4(OAT):c.267C>T (p.Asn89=)
NM_000274.4(OAT):c.276T>C (p.His92=)
NM_000274.4(OAT):c.285C>T (p.Pro95=)
NM_000274.4(OAT):c.297T>C (p.Asn99=) rs530768910
NM_000274.4(OAT):c.300T>C (p.Ala100=) rs2134478568
NM_000274.4(OAT):c.301C>T (p.Leu101=) rs2134478556
NM_000274.4(OAT):c.312A>G (p.Gln104=)
NM_000274.4(OAT):c.315G>C (p.Val105=) rs780286690
NM_000274.4(OAT):c.336T>C (p.Ser112=) rs2134478347
NM_000274.4(OAT):c.33T>C (p.Phe11=)
NM_000274.4(OAT):c.360T>C (p.Leu120=)
NM_000274.4(OAT):c.384T>C (p.Thr128=)
NM_000274.4(OAT):c.402C>T (p.His134=)
NM_000274.4(OAT):c.414T>C (p.Pro138=)
NM_000274.4(OAT):c.424+8A>G rs2134477909
NM_000274.4(OAT):c.425-11T>C
NM_000274.4(OAT):c.425-20A>G
NM_000274.4(OAT):c.425-4A>G
NM_000274.4(OAT):c.425-5G>T rs2134477497
NM_000274.4(OAT):c.435T>C (p.Ala145=) rs764910542
NM_000274.4(OAT):c.435T>G (p.Ala145=) rs764910542
NM_000274.4(OAT):c.447C>A (p.Ala149=) rs1951667717
NM_000274.4(OAT):c.465G>A (p.Lys155=)
NM_000274.4(OAT):c.480G>A (p.Val160=) rs2134477131
NM_000274.4(OAT):c.483G>A (p.Lys161=)
NM_000274.4(OAT):c.48C>A (p.Arg16=) rs143526711
NM_000274.4(OAT):c.48C>G (p.Arg16=)
NM_000274.4(OAT):c.501A>G (p.Lys167=) rs1951665213
NM_000274.4(OAT):c.504A>C (p.Ala168=) rs138591022
NM_000274.4(OAT):c.504A>G (p.Ala168=) rs138591022
NM_000274.4(OAT):c.516T>C (p.Phe172=) rs2134476880
NM_000274.4(OAT):c.520+17A>G
NM_000274.4(OAT):c.521-6T>G rs369018496
NM_000274.4(OAT):c.521-9C>T
NM_000274.4(OAT):c.531C>T (p.Phe177=)
NM_000274.4(OAT):c.538A>C (p.Arg180=) rs2134465732
NM_000274.4(OAT):c.543G>T (p.Thr181=)
NM_000274.4(OAT):c.558C>T (p.Ser186=) rs1589705355
NM_000274.4(OAT):c.561T>C (p.Ser187=)
NM_000274.4(OAT):c.567A>G (p.Thr189=) rs2134465525
NM_000274.4(OAT):c.573A>G (p.Pro191=)
NM_000274.4(OAT):c.612C>T (p.Phe204=) rs750055546
NM_000274.4(OAT):c.624C>T (p.Pro208=) rs2134465205
NM_000274.4(OAT):c.627T>C (p.Tyr209=) rs121965056
NM_000274.4(OAT):c.630T>C (p.Asn210=)
NM_000274.4(OAT):c.633T>C (p.Asp211=)
NM_000274.4(OAT):c.634C>T (p.Leu212=) rs2134465097
NM_000274.4(OAT):c.636G>A (p.Leu212=)
NM_000274.4(OAT):c.63A>G (p.Ser21=)
NM_000274.4(OAT):c.642A>G (p.Ala214=)
NM_000274.4(OAT):c.648+13C>T
NM_000274.4(OAT):c.648+13_648+14inv
NM_000274.4(OAT):c.648+19A>C
NM_000274.4(OAT):c.648+20G>A
NM_000274.4(OAT):c.648+20G>T
NM_000274.4(OAT):c.648+8A>C rs1951545729
NM_000274.4(OAT):c.649-13G>A
NM_000274.4(OAT):c.649-14T>C
NM_000274.4(OAT):c.649-5T>C
NM_000274.4(OAT):c.649-7T>A rs773438111
NM_000274.4(OAT):c.672G>C (p.Val224=) rs2134460257
NM_000274.4(OAT):c.678G>A (p.Ala226=) rs1305977647
NM_000274.4(OAT):c.678G>C (p.Ala226=) rs1305977647
NM_000274.4(OAT):c.678G>T (p.Ala226=) rs1305977647
NM_000274.4(OAT):c.681C>T (p.Phe227=) rs777909577
NM_000274.4(OAT):c.711C>G (p.Gly237=) rs941484898
NM_000274.4(OAT):c.714T>A (p.Val238=)
NM_000274.4(OAT):c.717T>C (p.Val239=)
NM_000274.4(OAT):c.723G>A (p.Pro241=)
NM_000274.4(OAT):c.723G>C (p.Pro241=) rs765113522
NM_000274.4(OAT):c.748C>A (p.Arg250=) rs386833617
NM_000274.4(OAT):c.753G>A (p.Glu251=) rs1589702393
NM_000274.4(OAT):c.756C>T (p.Leu252=)
NM_000274.4(OAT):c.75T>C (p.Ala25=) rs1199534913
NM_000274.4(OAT):c.771+10T>C rs2134459550
NM_000274.4(OAT):c.771+13G>A
NM_000274.4(OAT):c.771+14C>G
NM_000274.4(OAT):c.771+20G>A
NM_000274.4(OAT):c.771+8C>G rs113532454
NM_000274.4(OAT):c.771+8_771+10dup
NM_000274.4(OAT):c.771+9G>A rs756798690
NM_000274.4(OAT):c.772-20G>A
NM_000274.4(OAT):c.772-5A>G
NM_000274.4(OAT):c.772-9C>T
NM_000274.4(OAT):c.777C>T (p.Leu259=)
NM_000274.4(OAT):c.789T>C (p.Asp263=) rs2134456663
NM_000274.4(OAT):c.807G>A (p.Leu269=) rs2134456558
NM_000274.4(OAT):c.819T>A (p.Gly273=) rs2134456505
NM_000274.4(OAT):c.834T>C (p.Val278=)
NM_000274.4(OAT):c.840T>C (p.Tyr280=)
NM_000274.4(OAT):c.843A>G (p.Glu281=)
NM_000274.4(OAT):c.864C>G (p.Val288=) rs1951455108
NM_000274.4(OAT):c.864C>T (p.Val288=)
NM_000274.4(OAT):c.867C>T (p.Leu289=) rs2134456266
NM_000274.4(OAT):c.876G>A (p.Lys292=)
NM_000274.4(OAT):c.879C>T (p.Ala293=) rs1951454400
NM_000274.4(OAT):c.897C>T (p.Tyr299=)
NM_000274.4(OAT):c.900+10A>G rs2134456121
NM_000274.4(OAT):c.900+12G>C
NM_000274.4(OAT):c.900+15C>A
NM_000274.4(OAT):c.900+20del
NM_000274.4(OAT):c.900+7T>C rs2134456131
NM_000274.4(OAT):c.901-10T>C rs376686600
NM_000274.4(OAT):c.901-10T>G rs376686600
NM_000274.4(OAT):c.901-12A>T rs1951421133
NM_000274.4(OAT):c.901-15T>C
NM_000274.4(OAT):c.901-20G>A
NM_000274.4(OAT):c.90T>G (p.Thr30=) rs1250394805
NM_000274.4(OAT):c.915G>A (p.Leu305=)
NM_000274.4(OAT):c.924T>C (p.Asp308=) rs2134453379
NM_000274.4(OAT):c.927C>T (p.Asp309=) rs2134453354
NM_000274.4(OAT):c.93A>G (p.Lys31=) rs1274789501
NM_000274.4(OAT):c.948A>C (p.Pro316=) rs2134453303
NM_000274.4(OAT):c.966A>T (p.Thr322=) rs1951417723
NM_000274.4(OAT):c.981A>T (p.Pro327=) rs1365800165
NM_000274.4(OAT):c.982C>T (p.Leu328=)
NM_000274.4(OAT):c.984A>G (p.Leu328=) rs755193146

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