ClinVar Miner

List of variants in gene AMT reported as uncertain significance for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 189
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HGVS dbSNP gnomAD frequency
NM_000481.4(AMT):c.*545C>T rs114057053 0.00144
NM_000481.4(AMT):c.354G>A (p.Leu118=) rs145194293 0.00072
NM_000481.4(AMT):c.*678C>G rs779703869 0.00057
NM_000481.4(AMT):c.101G>A (p.Arg34His) rs138259479 0.00032
NM_000481.4(AMT):c.825T>A (p.Asn275Lys) rs144241950 0.00031
NM_000481.4(AMT):c.152C>T (p.Ala51Val) rs34812788 0.00024
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00024
NM_000481.4(AMT):c.697-3C>T rs373703503 0.00022
NM_000481.4(AMT):c.1136A>C (p.Glu379Ala) rs201189946 0.00018
NM_000481.4(AMT):c.*424G>C rs746995778 0.00017
NM_000481.4(AMT):c.363C>T (p.Asn121=) rs367604855 0.00017
NM_000481.4(AMT):c.*163G>C rs200568631 0.00016
NM_000481.4(AMT):c.858C>A (p.Gly286=) rs367726589 0.00014
NM_000481.4(AMT):c.961G>A (p.Val321Met) rs149457059 0.00012
NM_000481.4(AMT):c.952C>T (p.Arg318Trp) rs777583902 0.00011
NM_000481.4(AMT):c.1062C>A (p.Pro354=) rs377227163 0.00010
NM_000481.4(AMT):c.194A>G (p.His65Arg) rs376248724 0.00010
NM_000481.4(AMT):c.701C>T (p.Ser234Leu) rs150998074 0.00010
NM_000481.4(AMT):c.589G>C (p.Asp197His) rs200550585 0.00009
NM_000481.4(AMT):c.159G>A (p.Ala53=) rs201080782 0.00007
NM_000481.4(AMT):c.713C>T (p.Ala238Val) rs199985521 0.00007
NM_000481.4(AMT):c.401A>G (p.Asn134Ser) rs776832405 0.00006
NM_000481.4(AMT):c.555C>T (p.Pro185=) rs144790394 0.00006
NM_000481.4(AMT):c.91-9C>T rs761235679 0.00006
NM_000481.4(AMT):c.436G>A (p.Ala146Thr) rs570868528 0.00005
NM_000481.4(AMT):c.*407T>C rs761498529 0.00004
NM_000481.4(AMT):c.*86G>T rs745685639 0.00004
NM_000481.4(AMT):c.1097C>T (p.Pro366Leu) rs201400089 0.00004
NM_000481.4(AMT):c.148G>C (p.Val50Leu) rs148917929 0.00004
NM_000481.4(AMT):c.195C>T (p.His65=) rs145243292 0.00004
NM_000481.4(AMT):c.203C>T (p.Ser68Leu) rs759015013 0.00004
NM_000481.4(AMT):c.283G>A (p.Val95Met) rs183396486 0.00004
NM_000481.4(AMT):c.403A>G (p.Thr135Ala) rs768698117 0.00004
NM_000481.4(AMT):c.752C>G (p.Pro251Arg) rs770999859 0.00004
NM_000481.4(AMT):c.944G>A (p.Arg315Lys) rs376366324 0.00004
NM_000481.4(AMT):c.962T>C (p.Val321Ala) rs766509002 0.00004
NM_000481.4(AMT):c.1082C>T (p.Ala361Val) rs757293245 0.00003
NM_000481.4(AMT):c.1202C>A (p.Thr401Asn) rs752952950 0.00003
NM_000481.4(AMT):c.583G>A (p.Val195Met) rs372496075 0.00003
NM_000481.4(AMT):c.953G>A (p.Arg318Gln) rs755780814 0.00003
NM_000481.4(AMT):c.100C>T (p.Arg34Cys) rs143389339 0.00002
NM_000481.4(AMT):c.1021G>A (p.Gly341Ser) rs769609020 0.00002
NM_000481.4(AMT):c.1141C>T (p.Arg381Trp) rs775324601 0.00002
NM_000481.4(AMT):c.431C>T (p.Ser144Phe) rs147482804 0.00002
NM_000481.4(AMT):c.434A>G (p.Asn145Ser) rs386833682 0.00002
NM_000481.4(AMT):c.503G>C (p.Arg168Thr) rs200058579 0.00002
NM_000481.4(AMT):c.529A>G (p.Asn177Asp) rs771657567 0.00002
NM_000481.4(AMT):c.584T>C (p.Val195Ala) rs752740839 0.00002
NM_000481.4(AMT):c.658G>A (p.Val220Met) rs199638653 0.00002
NM_000481.4(AMT):c.*616C>T rs1477520548 0.00001
NM_000481.4(AMT):c.110C>T (p.Pro37Leu) rs202225151 0.00001
NM_000481.4(AMT):c.1157T>C (p.Met386Thr) rs757170367 0.00001
NM_000481.4(AMT):c.153G>A (p.Ala51=) rs768510463 0.00001
NM_000481.4(AMT):c.158C>T (p.Ala53Val) rs746916262 0.00001
NM_000481.4(AMT):c.170T>C (p.Leu57Pro) rs1439129399 0.00001
NM_000481.4(AMT):c.173C>T (p.Pro58Leu) rs1008341193 0.00001
NM_000481.4(AMT):c.212A>C (p.His71Pro) rs1053797603 0.00001
NM_000481.4(AMT):c.218G>A (p.Arg73His) rs928833763 0.00001
NM_000481.4(AMT):c.298A>G (p.Ser100Gly) rs994868932 0.00001
NM_000481.4(AMT):c.350C>T (p.Ser117Leu) rs769468125 0.00001
NM_000481.4(AMT):c.425T>G (p.Val142Gly) rs753217454 0.00001
NM_000481.4(AMT):c.443G>T (p.Cys148Phe) rs140697432 0.00001
NM_000481.4(AMT):c.471+9C>T rs760770619 0.00001
NM_000481.4(AMT):c.476A>G (p.Lys159Arg) rs1553638556 0.00001
NM_000481.4(AMT):c.566A>C (p.Gln189Pro) rs1371408104 0.00001
NM_000481.4(AMT):c.613A>G (p.Met205Val) rs766904475 0.00001
NM_000481.4(AMT):c.638T>G (p.Phe213Cys) rs963795935 0.00001
NM_000481.4(AMT):c.656G>A (p.Arg219His) rs202043041 0.00001
NM_000481.4(AMT):c.665G>A (p.Arg222His) rs562695274 0.00001
NM_000481.4(AMT):c.750C>T (p.Asn250=) rs141324034 0.00001
NM_000481.4(AMT):c.793C>T (p.Arg265Cys) rs779483959 0.00001
NM_000481.4(AMT):c.830T>C (p.Ile277Thr) rs1052014497 0.00001
NM_000481.4(AMT):c.883C>T (p.Arg295Cys) rs891522376 0.00001
NM_000481.4(AMT):c.890G>A (p.Arg297Gln) rs770048404 0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610 0.00001
NM_000481.4(AMT):c.972G>A (p.Met324Ile) rs773215128 0.00001
NM_000481.4(AMT):c.982G>A (p.Ala328Thr) rs765464808 0.00001
NM_000481.4(AMT):c.*621A>G rs2049007839
NM_000481.4(AMT):c.1001G>T (p.Ser334Ile) rs2107929053
NM_000481.4(AMT):c.1030A>T (p.Ile344Phe) rs2049024917
NM_000481.4(AMT):c.1033+1G>C rs2107928969
NM_000481.4(AMT):c.1033+2dup rs976598152
NM_000481.4(AMT):c.1033+5G>A
NM_000481.4(AMT):c.1034-1G>C rs1575302765
NM_000481.4(AMT):c.1039G>C (p.Val347Leu)
NM_000481.4(AMT):c.1040T>C (p.Val347Ala)
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del) rs768940499
NM_000481.4(AMT):c.1073A>C (p.Lys358Thr)
NM_000481.4(AMT):c.1076A>C (p.Asn359Thr) rs2107928652
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000481.4(AMT):c.1108A>G (p.Ser370Gly)
NM_000481.4(AMT):c.1111C>T (p.Arg371Cys) rs1200405341
NM_000481.4(AMT):c.1112G>A (p.Arg371His) rs147006017
NM_000481.4(AMT):c.1124T>C (p.Met375Thr)
NM_000481.4(AMT):c.1138G>A (p.Val380Met) rs1306590343
NM_000481.4(AMT):c.1141C>A (p.Arg381=) rs775324601
NM_000481.4(AMT):c.1142G>A (p.Arg381Gln)
NM_000481.4(AMT):c.1150CAG[1] (p.Gln385del) rs747544827
NM_000481.4(AMT):c.1153C>T (p.Gln385Ter) rs1553638206
NM_000481.4(AMT):c.1155G>C (p.Gln385His)
NM_000481.4(AMT):c.1162G>A (p.Val388Ile)
NM_000481.4(AMT):c.116A>G (p.Tyr39Cys)
NM_000481.4(AMT):c.1181T>C (p.Phe394Ser)
NM_000481.4(AMT):c.1187C>T (p.Pro396Leu)
NM_000481.4(AMT):c.1190C>A (p.Thr397Lys) rs886058683
NM_000481.4(AMT):c.1198T>C (p.Tyr400His)
NM_000481.4(AMT):c.1199A>C (p.Tyr400Ser)
NM_000481.4(AMT):c.1199A>G (p.Tyr400Cys) rs201548428
NM_000481.4(AMT):c.1199_1202delinsTAT (p.Tyr400fs) rs1553638191
NM_000481.4(AMT):c.1204C>T (p.Leu402Phe)
NM_000481.4(AMT):c.1204_1206del (p.Leu402del) rs1559527384
NM_000481.4(AMT):c.1209del (p.Lys403fs) rs1553638189
NM_000481.4(AMT):c.130G>A (p.Ala44Thr) rs2049118414
NM_000481.4(AMT):c.136G>A (p.Gly46Ser)
NM_000481.4(AMT):c.148G>T (p.Val50Leu) rs148917929
NM_000481.4(AMT):c.155T>C (p.Phe52Ser) rs2107937639
NM_000481.4(AMT):c.155T>G (p.Phe52Cys) rs2107937639
NM_000481.4(AMT):c.175G>A (p.Val59Met)
NM_000481.4(AMT):c.184C>T (p.Arg62Trp)
NM_000481.4(AMT):c.185G>A (p.Arg62Gln)
NM_000481.4(AMT):c.188A>G (p.Asp63Gly) rs2107937495
NM_000481.4(AMT):c.189C>G (p.Asp63Glu)
NM_000481.4(AMT):c.196A>G (p.Thr66Ala) rs2049115954
NM_000481.4(AMT):c.235T>A (p.Phe79Ile)
NM_000481.4(AMT):c.241G>A (p.Val81Met)
NM_000481.4(AMT):c.242T>C (p.Val81Ala)
NM_000481.4(AMT):c.258+6C>G rs1451725049
NM_000481.4(AMT):c.259-13A>G
NM_000481.4(AMT):c.269_270delinsCC (p.Leu90Pro) rs2107936070
NM_000481.4(AMT):c.271_273del (p.Gly91del) rs2107936054
NM_000481.4(AMT):c.311G>A (p.Gly104Glu) rs753221440
NM_000481.4(AMT):c.335A>G (p.Asn112Ser) rs2107935915
NM_000481.4(AMT):c.339+3G>A rs752570901
NM_000481.4(AMT):c.339+3G>T rs752570901
NM_000481.4(AMT):c.341G>A (p.Gly114Glu) rs1575306589
NM_000481.4(AMT):c.359C>G (p.Thr120Ser)
NM_000481.4(AMT):c.359C>T (p.Thr120Ile) rs766350668
NM_000481.4(AMT):c.362A>G (p.Asn121Ser) rs2049078071
NM_000481.4(AMT):c.364G>A (p.Glu122Lys)
NM_000481.4(AMT):c.371G>A (p.Gly124Glu) rs1575306496
NM_000481.4(AMT):c.415C>G (p.His139Asp)
NM_000481.4(AMT):c.448G>A (p.Glu150Lys)
NM_000481.4(AMT):c.467T>C (p.Met156Thr) rs2107933555
NM_000481.4(AMT):c.471+12_471+13del rs370772505
NM_000481.4(AMT):c.512G>A (p.Gly171Asp)
NM_000481.4(AMT):c.513C>T (p.Gly171=) rs555045517
NM_000481.4(AMT):c.515T>C (p.Leu172Pro) rs1366977126
NM_000481.4(AMT):c.526G>A (p.Asp176Asn)
NM_000481.4(AMT):c.533C>T (p.Ala178Val)
NM_000481.4(AMT):c.550+5G>A
NM_000481.4(AMT):c.551-18C>G
NM_000481.4(AMT):c.562G>A (p.Ala188Thr)
NM_000481.4(AMT):c.578C>G (p.Ala193Gly)
NM_000481.4(AMT):c.580G>A (p.Gly194Ser)
NM_000481.4(AMT):c.589G>A (p.Asp197Asn) rs200550585
NM_000481.4(AMT):c.614T>G (p.Met205Arg) rs2107932197
NM_000481.4(AMT):c.625G>A (p.Val209Met) rs370287514
NM_000481.4(AMT):c.643G>A (p.Val215Met) rs1030915796
NM_000481.4(AMT):c.643G>C (p.Val215Leu) rs1030915796
NM_000481.4(AMT):c.655C>T (p.Arg219Cys)
NM_000481.4(AMT):c.677C>T (p.Thr226Ile) rs2107932030
NM_000481.4(AMT):c.697-14G>A
NM_000481.4(AMT):c.705_710dup (p.Pro236_Val237dup) rs1553638433
NM_000481.4(AMT):c.719C>T (p.Ala240Val)
NM_000481.4(AMT):c.721G>A (p.Val241Ile) rs1004875097
NM_000481.4(AMT):c.727C>A (p.Leu243Met) rs1575304886
NM_000481.4(AMT):c.754G>A (p.Glu252Lys)
NM_000481.4(AMT):c.797T>C (p.Leu266Pro) rs2049051428
NM_000481.4(AMT):c.805G>A (p.Gly269Ser) rs2049051018
NM_000481.4(AMT):c.806G>A (p.Gly269Asp) rs121964981
NM_000481.4(AMT):c.822_836dup (p.Glu279_His280insAsnAspIleAspGlu)
NM_000481.4(AMT):c.830T>A (p.Ile277Asn) rs1052014497
NM_000481.4(AMT):c.841A>G (p.Thr281Ala)
NM_000481.4(AMT):c.850G>A (p.Val284Met) rs2107931384
NM_000481.4(AMT):c.856G>A (p.Gly286Ser) rs778159864
NM_000481.4(AMT):c.857G>A (p.Gly286Asp) rs2049049669
NM_000481.4(AMT):c.877+4A>T rs2049049249
NM_000481.4(AMT):c.878G>A (p.Gly293Glu)
NM_000481.4(AMT):c.892G>A (p.Ala298Thr) rs2049028177
NM_000481.4(AMT):c.91-17A>G rs2107937879
NM_000481.4(AMT):c.911G>A (p.Gly304Glu) rs2049027770
NM_000481.4(AMT):c.923T>C (p.Ile308Thr)
NM_000481.4(AMT):c.928C>T (p.Pro310Ser)
NM_000481.4(AMT):c.946G>T (p.Val316Leu)
NM_000481.4(AMT):c.950A>G (p.Gln317Arg) rs146114174
NM_000481.4(AMT):c.959G>T (p.Arg320Leu) rs121964985
NM_000481.4(AMT):c.95T>C (p.Val32Ala)
NM_000481.4(AMT):c.961G>C (p.Val321Leu)
NM_000481.4(AMT):c.970_972del (p.Met324del) rs386833691

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