ClinVar Miner

List of variants in gene AMT studied for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 136
Download table as spreadsheet
HGVS dbSNP
AMT, 1-BP DEL, 183C
NC_000003.12:g.(?_49419700)_(49419798_?)dup
NM_000481.3(AMT):c.100C>T (p.Arg34Cys) rs143389339
NM_000481.3(AMT):c.101G>A (p.Arg34His) rs138259479
NM_000481.3(AMT):c.1033+2T>C rs1553638247
NM_000481.3(AMT):c.1033+2dup rs976598152
NM_000481.3(AMT):c.1034-1G>C rs1575302765
NM_000481.3(AMT):c.259-1G>C rs386833681
NM_000481.3(AMT):c.339+1G>A rs1575308129
NM_000481.3(AMT):c.339+3G>T rs752570901
NM_000481.3(AMT):c.471+2T>C rs386833684
NM_000481.3(AMT):c.695_696+21del rs1553638457
NM_000481.3(AMT):c.696+1G>A rs1553638460
NM_000481.3(AMT):c.696+2T>A rs541594122
NM_000481.3(AMT):c.697-3C>T rs373703503
NM_000481.3(AMT):c.878-1G>A rs181134220
NM_000481.3(AMT):c.91-9C>T rs761235679
NM_000481.4(AMT):c.*130G>T rs143731179
NM_000481.4(AMT):c.*163G>C rs200568631
NM_000481.4(AMT):c.*407T>C rs761498529
NM_000481.4(AMT):c.*416C>T
NM_000481.4(AMT):c.*424G>C rs746995778
NM_000481.4(AMT):c.*545C>T rs114057053
NM_000481.4(AMT):c.*616C>T
NM_000481.4(AMT):c.*621A>G
NM_000481.4(AMT):c.*678C>G rs779703869
NM_000481.4(AMT):c.*696C>T rs10640
NM_000481.4(AMT):c.*86G>T rs745685639
NM_000481.4(AMT):c.1029G>A (p.Lys343=) rs1553638253
NM_000481.4(AMT):c.1034-1dup rs1238918084
NM_000481.4(AMT):c.1062C>A (p.Pro354=) rs377227163
NM_000481.4(AMT):c.1082C>T (p.Ala361Val) rs757293245
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000481.4(AMT):c.1097C>T (p.Pro366Leu)
NM_000481.4(AMT):c.1112G>A (p.Arg371His) rs147006017
NM_000481.4(AMT):c.1136A>C (p.Glu379Ala)
NM_000481.4(AMT):c.1138G>A (p.Val380Met)
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107
NM_000481.4(AMT):c.1150_1152CAG[1] (p.Gln385del) rs747544827
NM_000481.4(AMT):c.1153C>T (p.Gln385Ter) rs1553638206
NM_000481.4(AMT):c.1157T>C (p.Met386Thr) rs757170367
NM_000481.4(AMT):c.1190C>A (p.Thr397Lys) rs886058683
NM_000481.4(AMT):c.1199A>G (p.Tyr400Cys)
NM_000481.4(AMT):c.1199_1202delinsTAT (p.Tyr400fs) rs1553638191
NM_000481.4(AMT):c.1209del (p.Lys403fs) rs1553638189
NM_000481.4(AMT):c.123C>T (p.Phe41=) rs774066970
NM_000481.4(AMT):c.125A>G (p.His42Arg) rs121964983
NM_000481.4(AMT):c.126C>T (p.His42=) rs761195733
NM_000481.4(AMT):c.130G>A (p.Ala44Thr)
NM_000481.4(AMT):c.139G>A (p.Gly47Arg) rs121964982
NM_000481.4(AMT):c.139G>T (p.Gly47Trp) rs121964982
NM_000481.4(AMT):c.144_148del (p.Lys48fs) rs1553638822
NM_000481.4(AMT):c.148G>T (p.Val50Leu) rs148917929
NM_000481.4(AMT):c.148del (p.Val50fs) rs386833678
NM_000481.4(AMT):c.152C>T (p.Ala51Val) rs34812788
NM_000481.4(AMT):c.153G>A (p.Ala51=) rs768510463
NM_000481.4(AMT):c.158C>T (p.Ala53Val)
NM_000481.4(AMT):c.164G>A (p.Trp55Ter) rs1559530507
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer) rs1483890972
NM_000481.4(AMT):c.174A>G (p.Pro58=) rs1356238437
NM_000481.4(AMT):c.194A>G (p.His65Arg)
NM_000481.4(AMT):c.195C>T (p.His65=) rs145243292
NM_000481.4(AMT):c.212A>C (p.His71Pro) rs1053797603
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679
NM_000481.4(AMT):c.230C>T (p.Ser77Leu) rs386833680
NM_000481.4(AMT):c.231G>A (p.Ser77=) rs779002947
NM_000481.4(AMT):c.256C>T (p.Gln86Ter) rs1575308888
NM_000481.4(AMT):c.280C>T (p.Arg94Trp) rs1126422
NM_000481.4(AMT):c.311G>A (p.Gly104Glu) rs753221440
NM_000481.4(AMT):c.339+3G>A
NM_000481.4(AMT):c.341G>A (p.Gly114Glu) rs1575306589
NM_000481.4(AMT):c.348_349del (p.Ser117fs) rs1553638649
NM_000481.4(AMT):c.350C>T (p.Ser117Leu) rs769468125
NM_000481.4(AMT):c.354G>A (p.Leu118=) rs145194293
NM_000481.4(AMT):c.363C>T (p.Asn121=) rs367604855
NM_000481.4(AMT):c.371G>A (p.Gly124Glu) rs1575306496
NM_000481.4(AMT):c.401A>G (p.Asn134Ser) rs776832405
NM_000481.4(AMT):c.403A>G (p.Thr135Ala)
NM_000481.4(AMT):c.434A>G (p.Asn145Ser)
NM_000481.4(AMT):c.434A>T (p.Asn145Ile) rs386833682
NM_000481.4(AMT):c.436G>A (p.Ala146Thr) rs570868528
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000481.4(AMT):c.471+12_471+13del rs370772505
NM_000481.4(AMT):c.471+9C>T rs760770619
NM_000481.4(AMT):c.476A>G (p.Lys159Arg) rs1553638556
NM_000481.4(AMT):c.478del (p.Val160fs) rs1575305901
NM_000481.4(AMT):c.496C>T (p.Gln166Ter) rs558998633
NM_000481.4(AMT):c.503G>C (p.Arg168Thr) rs200058579
NM_000481.4(AMT):c.510G>C (p.Val170=) rs140380954
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.535del (p.Leu179fs) rs386833685
NM_000481.4(AMT):c.555C>T (p.Pro185=) rs144790394
NM_000481.4(AMT):c.574C>T (p.Gln192Ter) rs121964986
NM_000481.4(AMT):c.584T>C (p.Val195Ala)
NM_000481.4(AMT):c.589G>C (p.Asp197His) rs200550585
NM_000481.4(AMT):c.625G>A (p.Val209Met) rs370287514
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125
NM_000481.4(AMT):c.664C>T (p.Arg222Cys) rs781466698
NM_000481.4(AMT):c.674A>G (p.Tyr225Cys) rs386833689
NM_000481.4(AMT):c.685G>C (p.Asp229His) rs1553638463
NM_000481.4(AMT):c.696+10G>T rs750787542
NM_000481.4(AMT):c.705_710dup (p.Pro236_Val237dup) rs1553638433
NM_000481.4(AMT):c.713C>T (p.Ala238Val) rs199985521
NM_000481.4(AMT):c.727C>A (p.Leu243Met) rs1575304886
NM_000481.4(AMT):c.734_735del (p.Thr245fs)
NM_000481.4(AMT):c.750C>T (p.Asn250=)
NM_000481.4(AMT):c.752C>G (p.Pro251Arg) rs770999859
NM_000481.4(AMT):c.789C>T (p.Ser263=) rs753177107
NM_000481.4(AMT):c.793C>T (p.Arg265Cys) rs779483959
NM_000481.4(AMT):c.794G>A (p.Arg265His) rs757918826
NM_000481.4(AMT):c.806G>A (p.Gly269Asp) rs121964981
NM_000481.4(AMT):c.825T>A (p.Asn275Lys) rs144241950
NM_000481.4(AMT):c.826G>C (p.Asp276His) rs121964984
NM_000481.4(AMT):c.849dup (p.Val284fs) rs1553638408
NM_000481.4(AMT):c.852G>A (p.Val284=) rs749481166
NM_000481.4(AMT):c.856G>A (p.Gly286Ser)
NM_000481.4(AMT):c.857G>A (p.Gly286Asp)
NM_000481.4(AMT):c.858C>A (p.Gly286=) rs367726589
NM_000481.4(AMT):c.870G>A (p.Trp290Ter) rs797045082
NM_000481.4(AMT):c.875del (p.Leu292fs) rs1553638405
NM_000481.4(AMT):c.886C>T (p.Arg296Cys) rs1056820947
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690
NM_000481.4(AMT):c.892G>A (p.Ala298Thr)
NM_000481.4(AMT):c.898A>G (p.Met300Val) rs144971200
NM_000481.4(AMT):c.908del (p.Pro303fs) rs1575303218
NM_000481.4(AMT):c.954G>A (p.Arg318=) rs11715915
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985
NM_000481.4(AMT):c.961G>A (p.Val321Met) rs149457059
NM_000481.4(AMT):c.962T>C (p.Val321Ala) rs766509002
NM_000481.4(AMT):c.970_972del (p.Met324del) rs386833691
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs) rs386833692
NM_000481.4(AMT):c.982del (p.Ala328fs) rs1553638266
NM_000481.4(AMT):c.982dup (p.Ala328fs) rs1553638266

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.