ClinVar Miner

List of variants reported as uncertain significance for Ornithine aminotransferase deficiency

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Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_000274.4(OAT):c.-30+8C>T rs552799531 0.00661
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_000274.3(OAT):c.-83A>G rs969985784 0.00046
NM_000274.4(OAT):c.1015-6A>G rs561800688 0.00046
NM_000274.4(OAT):c.*61A>G rs530505560 0.00039
NM_000274.4(OAT):c.*311T>C rs753216934 0.00026
NM_000274.4(OAT):c.-12T>G rs775990544 0.00023
NM_000274.4(OAT):c.740T>C (p.Met247Thr) rs140966644 0.00021
NM_000274.4(OAT):c.107G>C (p.Gly36Ala) rs140786333 0.00019
NM_000274.4(OAT):c.517G>A (p.Ala173Thr) rs372152657 0.00014
NM_000274.4(OAT):c.-4C>G rs372151002 0.00013
NM_000274.4(OAT):c.1160-13T>A rs372850085 0.00013
NM_000274.4(OAT):c.355G>A (p.Val119Ile) rs150939128 0.00013
NM_000274.4(OAT):c.546G>T (p.Leu182Phe) rs144763058 0.00013
NM_000274.4(OAT):c.736C>T (p.Leu246=) rs146882296 0.00013
NM_000274.4(OAT):c.*561G>A rs375454907 0.00011
NM_000274.4(OAT):c.478G>A (p.Val160Met) rs148433929 0.00011
NM_000274.4(OAT):c.1291A>G (p.Ile431Val) rs138709143 0.00010
NM_000274.4(OAT):c.1015-5C>T rs764963374 0.00009
NM_000274.4(OAT):c.283C>T (p.Pro95Ser) rs372105047 0.00008
NM_000274.4(OAT):c.*35C>T rs750628344 0.00006
NM_000274.4(OAT):c.649C>T (p.Arg217Cys) rs370970194 0.00005
NM_000274.3(OAT):c.-104T>C rs886046813 0.00004
NM_000274.4(OAT):c.1228G>A (p.Asp410Asn) rs745530000 0.00004
NM_000274.4(OAT):c.1187G>A (p.Arg396Gln) rs776819570 0.00003
NM_000274.4(OAT):c.314T>C (p.Val105Ala) rs199957428 0.00003
NM_000274.4(OAT):c.650G>A (p.Arg217His) rs774853325 0.00003
NM_000274.4(OAT):c.901-3C>T rs371484835 0.00003
NM_000274.4(OAT):c.1068G>T (p.Leu356Phe) rs768685095 0.00002
NM_000274.4(OAT):c.1245G>A (p.Ala415=) rs751449034 0.00002
NM_000274.4(OAT):c.1255G>C (p.Val419Leu) rs760922693 0.00002
NM_000274.4(OAT):c.202A>G (p.Ile68Val) rs766674632 0.00002
NM_000274.4(OAT):c.46C>T (p.Arg16Cys) rs778757920 0.00002
NM_000274.4(OAT):c.477C>T (p.Thr159=) rs575839041 0.00002
NM_000274.4(OAT):c.785C>A (p.Ala262Asp) rs772762366 0.00002
NM_000274.4(OAT):c.860T>C (p.Ile287Thr) rs550949287 0.00002
NM_000274.4(OAT):c.899C>G (p.Pro300Arg) rs759979499 0.00002
NM_000274.4(OAT):c.*189A>G rs886046809 0.00001
NM_000274.4(OAT):c.*378A>G rs886046807 0.00001
NM_000274.4(OAT):c.*486A>G rs1377283827 0.00001
NM_000274.4(OAT):c.-60C>T rs886046812 0.00001
NM_000274.4(OAT):c.1090C>T (p.Pro364Ser) rs1195438970 0.00001
NM_000274.4(OAT):c.1135G>A (p.Ala379Thr) rs1408984206 0.00001
NM_000274.4(OAT):c.1165G>T (p.Asp389Tyr) rs1281980374 0.00001
NM_000274.4(OAT):c.1166A>G (p.Asp389Gly) rs1414573089 0.00001
NM_000274.4(OAT):c.1208T>C (p.Leu403Pro) rs141737170 0.00001
NM_000274.4(OAT):c.1286T>C (p.Ile429Thr) rs774831749 0.00001
NM_000274.4(OAT):c.149A>G (p.Tyr50Cys) rs936463102 0.00001
NM_000274.4(OAT):c.162C>A (p.Asn54Lys) rs121965048 0.00001
NM_000274.4(OAT):c.166C>T (p.His56Tyr) rs1228173312 0.00001
NM_000274.4(OAT):c.181G>T (p.Ala61Ser) rs369213619 0.00001
NM_000274.4(OAT):c.211T>C (p.Trp71Arg) rs780235906 0.00001
NM_000274.4(OAT):c.416T>G (p.Met139Arg) rs1043163922 0.00001
NM_000274.4(OAT):c.461G>A (p.Arg154His) rs121965039 0.00001
NM_000274.4(OAT):c.49G>A (p.Gly17Arg) rs760716065 0.00001
NM_000274.4(OAT):c.58T>A (p.Ser20Thr) rs1046309017 0.00001
NM_000274.4(OAT):c.606G>A (p.Pro202=) rs369806549 0.00001
NM_000274.4(OAT):c.633T>G (p.Asp211Glu) rs755162030 0.00001
NM_000274.4(OAT):c.639C>T (p.Pro213=) rs773314783 0.00001
NM_000274.4(OAT):c.698A>G (p.Gln233Arg) rs386833615 0.00001
NM_000274.4(OAT):c.772-4A>G rs777129550 0.00001
NM_000274.4(OAT):c.823T>A (p.Trp275Arg) rs947658691 0.00001
NM_000274.4(OAT):c.845A>G (p.Asn282Ser) rs956427344 0.00001
NM_000274.4(OAT):c.853C>T (p.Pro285Ser) rs1295048098 0.00001
NM_000274.4(OAT):c.977A>G (p.Asn326Ser) rs371878605 0.00001
NM_000274.4(OAT):c.997G>A (p.Ala333Thr) rs1322699067 0.00001
NC_000010.10:g.(?_126086491)_(126100760_?)dup
NC_000010.10:g.(?_126086511)_(126100740_?)dup
NM_000274.4(OAT):c.*275A>G rs886046808
NM_000274.4(OAT):c.-30+11G>A rs886046811
NM_000274.4(OAT):c.-66A>G rs1387021384
NM_000274.4(OAT):c.1003G>T (p.Ala335Ser) rs751075605
NM_000274.4(OAT):c.1014+6G>A
NM_000274.4(OAT):c.1014G>A (p.Glu338=)
NM_000274.4(OAT):c.1027G>C (p.Glu343Gln) rs1951391727
NM_000274.4(OAT):c.1036G>A (p.Ala346Thr)
NM_000274.4(OAT):c.1039G>A (p.Glu347Lys) rs2134450837
NM_000274.4(OAT):c.1055T>C (p.Leu352Ser)
NM_000274.4(OAT):c.1056G>C (p.Leu352Phe) rs766145396
NM_000274.4(OAT):c.1073A>G (p.Asn358Ser)
NM_000274.4(OAT):c.1076A>G (p.Glu359Gly)
NM_000274.4(OAT):c.1084A>G (p.Lys362Glu) rs2134450586
NM_000274.4(OAT):c.109C>G (p.Pro37Ala)
NM_000274.4(OAT):c.110C>T (p.Pro37Leu) rs747742850
NM_000274.4(OAT):c.1111G>A (p.Val371Ile)
NM_000274.4(OAT):c.1118G>A (p.Gly373Glu) rs386833595
NM_000274.4(OAT):c.1124G>C (p.Gly375Ala) rs121965045
NM_000274.4(OAT):c.112C>T (p.Pro38Ser)
NM_000274.4(OAT):c.1159+2_1159+3insAAAGAAACCAAAGGTGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCGCTACAACCACCTCCCAGCCGCCTGCCTTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_000274.4(OAT):c.1159G>C (p.Asp387His)
NM_000274.4(OAT):c.1160A>G (p.Asp387Gly)
NM_000274.4(OAT):c.116C>T (p.Thr39Ile) rs754764229
NM_000274.4(OAT):c.1184T>G (p.Leu395Arg) rs2134440552
NM_000274.4(OAT):c.1187G>T (p.Arg396Leu)
NM_000274.4(OAT):c.1198A>T (p.Asn400Tyr) rs2134440441
NM_000274.4(OAT):c.1222C>G (p.His408Asp)
NM_000274.4(OAT):c.1231A>G (p.Ile411Val)
NM_000274.4(OAT):c.123T>C (p.Asp41=) rs376051303
NM_000274.4(OAT):c.124G>A (p.Asp42Asn) rs2134490858
NM_000274.4(OAT):c.1261A>G (p.Lys421Glu) rs1434415037
NM_000274.4(OAT):c.1272G>T (p.Glu424Asp) rs1170702129
NM_000274.4(OAT):c.1285A>G (p.Ile429Val)
NM_000274.4(OAT):c.1294A>T (p.Ile432Phe)
NM_000274.4(OAT):c.1300A>G (p.Lys434Glu)
NM_000274.4(OAT):c.1301A>C (p.Lys434Thr) rs2134439801
NM_000274.4(OAT):c.1312T>A (p.Ser438Thr)
NM_000274.4(OAT):c.1320A>G (p.Ter440Trp) rs2134439693
NM_000274.4(OAT):c.158A>G (p.His53Arg)
NM_000274.4(OAT):c.175C>T (p.Pro59Ser)
NM_000274.4(OAT):c.192_193del (p.Gly65fs) rs386833600
NM_000274.4(OAT):c.199+4C>T rs373425479
NM_000274.4(OAT):c.199+5G>A rs1564739598
NM_000274.4(OAT):c.268C>G (p.Gln90Glu) rs121965060
NM_000274.4(OAT):c.296A>G (p.Asn99Ser)
NM_000274.4(OAT):c.307A>G (p.Ser103Gly) rs2134478495
NM_000274.4(OAT):c.34G>T (p.Ala12Ser)
NM_000274.4(OAT):c.391T>C (p.Phe131Leu) rs2134478077
NM_000274.4(OAT):c.395A>G (p.Asn132Ser)
NM_000274.4(OAT):c.401A>G (p.His134Arg) rs1217397711
NM_000274.4(OAT):c.413C>T (p.Pro138Leu) rs1951673489
NM_000274.4(OAT):c.427G>T (p.Val143Leu) rs2134477473
NM_000274.4(OAT):c.437G>T (p.Gly146Val) rs1951668263
NM_000274.4(OAT):c.43A>T (p.Ser15Cys) rs1453312313
NM_000274.4(OAT):c.442A>T (p.Thr148Ser)
NM_000274.4(OAT):c.44G>T (p.Ser15Ile)
NM_000274.4(OAT):c.460C>T (p.Arg154Cys)
NM_000274.4(OAT):c.461G>T (p.Arg154Leu) rs121965039
NM_000274.4(OAT):c.466T>A (p.Trp156Arg)
NM_000274.4(OAT):c.472_486del (p.Tyr158_Gly162del) rs386833611
NM_000274.4(OAT):c.478G>C (p.Val160Leu)
NM_000274.4(OAT):c.47G>A (p.Arg16His)
NM_000274.4(OAT):c.494A>C (p.Lys165Thr) rs1951665737
NM_000274.4(OAT):c.49G>C (p.Gly17Arg) rs760716065
NM_000274.4(OAT):c.500A>C (p.Lys167Thr)
NM_000274.4(OAT):c.511G>A (p.Val171Ile) rs1951664964
NM_000274.4(OAT):c.515T>C (p.Phe172Ser)
NM_000274.4(OAT):c.519A>G (p.Ala173=) rs2134476827
NM_000274.4(OAT):c.520+4T>C
NM_000274.4(OAT):c.521-15_521-12del rs376636397
NM_000274.4(OAT):c.521-6T>G rs369018496
NM_000274.4(OAT):c.533G>C (p.Trp178Ser) rs267606923
NM_000274.4(OAT):c.533G>T (p.Trp178Leu) rs267606923
NM_000274.4(OAT):c.548C>G (p.Ser183Cys) rs2134465660
NM_000274.4(OAT):c.565A>G (p.Thr189Ala)
NM_000274.4(OAT):c.578G>A (p.Ser193Asn)
NM_000274.4(OAT):c.583G>A (p.Asp195Asn) rs386833614
NM_000274.4(OAT):c.583G>T (p.Asp195Tyr) rs386833614
NM_000274.4(OAT):c.603G>T (p.Met201Ile)
NM_000274.4(OAT):c.604C>A (p.Pro202Thr) rs868567649
NM_000274.4(OAT):c.604C>T (p.Pro202Ser)
NM_000274.4(OAT):c.605C>T (p.Pro202Leu)
NM_000274.4(OAT):c.613_614delinsAC (p.Asp205Thr)
NM_000274.4(OAT):c.614A>G (p.Asp205Gly) rs375157197
NM_000274.4(OAT):c.619A>T (p.Ile207Phe)
NM_000274.4(OAT):c.626A>G (p.Tyr209Cys) rs2134465189
NM_000274.4(OAT):c.640G>T (p.Ala214Ser) rs1464097966
NM_000274.4(OAT):c.648+13C>A rs779470531
NM_000274.4(OAT):c.648+6T>G rs1951545873
NM_000274.4(OAT):c.712G>A (p.Val238Ile)
NM_000274.4(OAT):c.718G>A (p.Val240Ile) rs777488833
NM_000274.4(OAT):c.773T>A (p.Val258Asp)
NM_000274.4(OAT):c.775C>G (p.Leu259Val) rs1252853867
NM_000274.4(OAT):c.792A>T (p.Glu264Asp) rs1174503043
NM_000274.4(OAT):c.796C>A (p.Gln266Lys) rs1951458291
NM_000274.4(OAT):c.799A>G (p.Thr267Ala) rs2134456603
NM_000274.4(OAT):c.809C>T (p.Ala270Val) rs2134456541
NM_000274.4(OAT):c.839A>G (p.Tyr280Cys)
NM_000274.4(OAT):c.844A>C (p.Asn282His) rs144131321
NM_000274.4(OAT):c.886G>A (p.Gly296Arg) rs1589700741
NM_000274.4(OAT):c.911T>A (p.Val304Glu) rs886046810
NM_000274.4(OAT):c.911T>G (p.Val304Gly)
NM_000274.4(OAT):c.922G>A (p.Asp308Asn)
NM_000274.4(OAT):c.934C>A (p.Leu312Met)
NM_000274.4(OAT):c.956A>G (p.His319Arg)
NM_000274.4(OAT):c.965C>T (p.Thr322Ile) rs953827835
NM_000274.4(OAT):c.966A>G (p.Thr322=) rs1951417723
NM_000274.4(OAT):c.966A>T (p.Thr322=) rs1951417723
NM_000274.4(OAT):c.96A>C (p.Lys32Asn) rs978283946
NM_000274.4(OAT):c.986G>C (p.Gly329Ala)
NM_000274.4(OAT):c.992G>A (p.Arg331Gln)
NM_000274.4(OAT):c.992G>T (p.Arg331Leu) rs201504751

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