ClinVar Miner

List of variants in gene AMT reported as likely benign for Non-ketotic hyperglycinemia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 317
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HGVS dbSNP gnomAD frequency
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290 0.00735
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107 0.00299
NM_000481.4(AMT):c.*130G>T rs143731179 0.00149
NM_000481.4(AMT):c.*416C>T rs571207015 0.00114
NM_000481.4(AMT):c.510G>C (p.Val170=) rs140380954 0.00091
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.363C>T (p.Asn121=) rs367604855 0.00017
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.822G>C (p.Gly274=) rs763963724 0.00011
NM_000481.4(AMT):c.1062C>A (p.Pro354=) rs377227163 0.00010
NM_000481.4(AMT):c.463C>T (p.Leu155Phe) rs201233398 0.00009
NM_000481.4(AMT):c.582C>T (p.Gly194=) rs377552553 0.00009
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.555C>T (p.Pro185=) rs144790394 0.00006
NM_000481.4(AMT):c.91-9C>T rs761235679 0.00006
NM_000481.4(AMT):c.231G>A (p.Ser77=) rs779002947 0.00005
NM_000481.4(AMT):c.91-8G>A rs375632843 0.00005
NM_000481.4(AMT):c.195C>T (p.His65=) rs145243292 0.00004
NM_000481.4(AMT):c.283G>A (p.Val95Met) rs183396486 0.00004
NM_000481.4(AMT):c.642C>T (p.Gly214=) rs759245586 0.00004
NM_000481.4(AMT):c.789C>T (p.Ser263=) rs753177107 0.00004
NM_000481.4(AMT):c.174A>G (p.Pro58=) rs1356238437 0.00003
NM_000481.4(AMT):c.472-6T>C rs750153849 0.00003
NM_000481.4(AMT):c.583G>A (p.Val195Met) rs372496075 0.00003
NM_000481.4(AMT):c.705G>A (p.Val235=) rs1324646911 0.00003
NM_000481.4(AMT):c.522G>T (p.Val174=) rs768025952 0.00002
NM_000481.4(AMT):c.657C>T (p.Arg219=) rs976237396 0.00002
NM_000481.4(AMT):c.1029G>A (p.Lys343=) rs1553638253 0.00001
NM_000481.4(AMT):c.1034-14T>C rs772896226 0.00001
NM_000481.4(AMT):c.1038T>C (p.Thr346=) rs532787574 0.00001
NM_000481.4(AMT):c.1083G>A (p.Ala361=) rs753899057 0.00001
NM_000481.4(AMT):c.1092T>C (p.Tyr364=) rs764246902 0.00001
NM_000481.4(AMT):c.1095G>A (p.Val365=) rs1367905315 0.00001
NM_000481.4(AMT):c.1101C>T (p.Cys367=) rs753150990 0.00001
NM_000481.4(AMT):c.111G>A (p.Pro37=) rs754165977 0.00001
NM_000481.4(AMT):c.1140G>C (p.Val380=) rs746645414 0.00001
NM_000481.4(AMT):c.123C>T (p.Phe41=) rs774066970 0.00001
NM_000481.4(AMT):c.126C>T (p.His42=) rs761195733 0.00001
NM_000481.4(AMT):c.135C>T (p.His45=) rs773881893 0.00001
NM_000481.4(AMT):c.141G>A (p.Gly47=) rs1286962248 0.00001
NM_000481.4(AMT):c.153G>A (p.Ala51=) rs768510463 0.00001
NM_000481.4(AMT):c.183C>T (p.Tyr61=) rs2049116527 0.00001
NM_000481.4(AMT):c.198T>C (p.Thr66=) rs151231828 0.00001
NM_000481.4(AMT):c.204G>A (p.Ser68=) rs544165488 0.00001
NM_000481.4(AMT):c.340-19C>T rs529076810 0.00001
NM_000481.4(AMT):c.399C>T (p.Thr133=) rs1638775910 0.00001
NM_000481.4(AMT):c.435C>T (p.Asn145=) rs1318110345 0.00001
NM_000481.4(AMT):c.441C>G (p.Gly147=) rs2049076356 0.00001
NM_000481.4(AMT):c.459G>A (p.Leu153=) rs1054393564 0.00001
NM_000481.4(AMT):c.462C>T (p.Ala154=) rs1192215555 0.00001
NM_000481.4(AMT):c.471+7C>G rs776638071 0.00001
NM_000481.4(AMT):c.471+7C>T rs776638071 0.00001
NM_000481.4(AMT):c.471+9C>T rs760770619 0.00001
NM_000481.4(AMT):c.516G>A (p.Leu172=) rs1281064499 0.00001
NM_000481.4(AMT):c.519G>A (p.Glu173=) rs376777888 0.00001
NM_000481.4(AMT):c.546G>A (p.Leu182=) rs1231853585 0.00001
NM_000481.4(AMT):c.551-20C>T rs770272854 0.00001
NM_000481.4(AMT):c.551-8G>C rs1198266542 0.00001
NM_000481.4(AMT):c.576G>A (p.Gln192=) rs1318971313 0.00001
NM_000481.4(AMT):c.579C>T (p.Ala193=) rs749313171 0.00001
NM_000481.4(AMT):c.618C>T (p.Thr206=) rs1361089893 0.00001
NM_000481.4(AMT):c.684G>A (p.Glu228=) rs2049057695 0.00001
NM_000481.4(AMT):c.696+10G>T rs750787542 0.00001
NM_000481.4(AMT):c.697-11G>A rs751099729 0.00001
NM_000481.4(AMT):c.697-35G>C rs746080712 0.00001
NM_000481.4(AMT):c.702G>A (p.Ser234=) rs761701860 0.00001
NM_000481.4(AMT):c.750C>T (p.Asn250=) rs141324034 0.00001
NM_000481.4(AMT):c.798G>A (p.Leu266=) rs749832818 0.00001
NM_000481.4(AMT):c.807C>A (p.Gly269=) rs200176736 0.00001
NM_000481.4(AMT):c.852G>A (p.Val284=) rs749481166 0.00001
NM_000481.4(AMT):c.877+10G>A rs1292050339 0.00001
NM_000481.4(AMT):c.878-16_878-15del rs759562642 0.00001
NM_000481.4(AMT):c.878-5T>G rs945551152 0.00001
NM_000481.4(AMT):c.879G>C (p.Gly293=) rs972670254 0.00001
NM_000481.4(AMT):c.891A>G (p.Arg297=) rs763216113 0.00001
NM_000481.4(AMT):c.897T>C (p.Ala299=) rs371771461 0.00001
NM_000481.4(AMT):c.939G>A (p.Lys313=) rs1382062787 0.00001
NM_000481.4(AMT):c.1002T>C (p.Ser334=)
NM_000481.4(AMT):c.1005C>T (p.Pro335=) rs2107929049
NM_000481.4(AMT):c.1008C>T (p.Ile336=)
NM_000481.4(AMT):c.1009C>T (p.Leu337=)
NM_000481.4(AMT):c.1011G>C (p.Leu337=) rs1339213409
NM_000481.4(AMT):c.102C>T (p.Arg34=)
NM_000481.4(AMT):c.1033+10C>T
NM_000481.4(AMT):c.1033+13G>C
NM_000481.4(AMT):c.1033+17A>G
NM_000481.4(AMT):c.1033+18G>A
NM_000481.4(AMT):c.1033+18G>C
NM_000481.4(AMT):c.1034-11T>G
NM_000481.4(AMT):c.1034-16T>C
NM_000481.4(AMT):c.1034-19G>A
NM_000481.4(AMT):c.1034-30_1034-18dup rs2107928803
NM_000481.4(AMT):c.1034-6T>C
NM_000481.4(AMT):c.1034-8C>T
NM_000481.4(AMT):c.1053C>T (p.Cys351=) rs747901545
NM_000481.4(AMT):c.1059C>T (p.Ser353=)
NM_000481.4(AMT):c.1062C>G (p.Pro354=) rs377227163
NM_000481.4(AMT):c.1062C>T (p.Pro354=) rs377227163
NM_000481.4(AMT):c.1077T>C (p.Asn359=) rs1559527521
NM_000481.4(AMT):c.1089T>C (p.Gly363=)
NM_000481.4(AMT):c.108A>C (p.Thr36=) rs1179441264
NM_000481.4(AMT):c.108A>G (p.Thr36=)
NM_000481.4(AMT):c.1098C>T (p.Pro366=) rs1231229906
NM_000481.4(AMT):c.1104G>A (p.Glu368=) rs767969842
NM_000481.4(AMT):c.1112G>A (p.Arg371His) rs147006017
NM_000481.4(AMT):c.1122A>G (p.Thr374=) rs2107928529
NM_000481.4(AMT):c.1128G>C (p.Leu376=) rs2107928524
NM_000481.4(AMT):c.1131G>A (p.Leu377=)
NM_000481.4(AMT):c.1134A>C (p.Val378=) rs2107928520
NM_000481.4(AMT):c.1164A>C (p.Val388=)
NM_000481.4(AMT):c.1191A>C (p.Thr397=) rs2107928409
NM_000481.4(AMT):c.1197C>T (p.Tyr399=) rs756452579
NM_000481.4(AMT):c.1203C>T (p.Thr401=) rs1489152600
NM_000481.4(AMT):c.1206C>G (p.Leu402=) rs2107928357
NM_000481.4(AMT):c.127C>T (p.Leu43=)
NM_000481.4(AMT):c.132C>T (p.Ala44=)
NM_000481.4(AMT):c.138C>T (p.Gly46=)
NM_000481.4(AMT):c.148G>T (p.Val50Leu) rs148917929
NM_000481.4(AMT):c.150G>A (p.Val50=)
NM_000481.4(AMT):c.153G>T (p.Ala51=) rs768510463
NM_000481.4(AMT):c.156T>C (p.Phe52=) rs993993334
NM_000481.4(AMT):c.159G>C (p.Ala53=) rs201080782
NM_000481.4(AMT):c.171G>T (p.Leu57=) rs2107937565
NM_000481.4(AMT):c.186G>C (p.Arg62=) rs2049116342
NM_000481.4(AMT):c.216A>G (p.Thr72=) rs2049115116
NM_000481.4(AMT):c.222G>A (p.Gln74=) rs2107937363
NM_000481.4(AMT):c.228C>T (p.Cys76=)
NM_000481.4(AMT):c.240C>T (p.Asp80=) rs1316776129
NM_000481.4(AMT):c.258+10G>A rs2107937238
NM_000481.4(AMT):c.258+13A>G
NM_000481.4(AMT):c.258+14G>A
NM_000481.4(AMT):c.258+17C>T
NM_000481.4(AMT):c.258+8del
NM_000481.4(AMT):c.259-16T>C
NM_000481.4(AMT):c.259-20G>A
NM_000481.4(AMT):c.259-4C>T rs769933849
NM_000481.4(AMT):c.259-6C>T rs2049102970
NM_000481.4(AMT):c.259-8dup rs1195350527
NM_000481.4(AMT):c.259-9C>T rs2107936124
NM_000481.4(AMT):c.261C>G (p.Thr87=)
NM_000481.4(AMT):c.270T>C (p.Leu90=)
NM_000481.4(AMT):c.279C>T (p.Asp93=) rs1575308228
NM_000481.4(AMT):c.282G>A (p.Arg94=)
NM_000481.4(AMT):c.285G>A (p.Val95=) rs2049102202
NM_000481.4(AMT):c.288G>A (p.Lys96=)
NM_000481.4(AMT):c.289C>T (p.Leu97=)
NM_000481.4(AMT):c.297G>A (p.Glu99=) rs2107935984
NM_000481.4(AMT):c.303A>G (p.Leu101=) rs756789501
NM_000481.4(AMT):c.306G>A (p.Val102=)
NM_000481.4(AMT):c.306G>C (p.Val102=) rs964800487
NM_000481.4(AMT):c.324G>A (p.Glu108=)
NM_000481.4(AMT):c.339+15T>C
NM_000481.4(AMT):c.339+17C>T
NM_000481.4(AMT):c.339+18T>G
NM_000481.4(AMT):c.339+8C>A
NM_000481.4(AMT):c.340-10T>C
NM_000481.4(AMT):c.340-12C>T
NM_000481.4(AMT):c.340-17C>T
NM_000481.4(AMT):c.340-18G>A
NM_000481.4(AMT):c.340-9T>C rs2107933861
NM_000481.4(AMT):c.340-9del
NM_000481.4(AMT):c.345A>T (p.Thr115=)
NM_000481.4(AMT):c.346C>T (p.Leu116=)
NM_000481.4(AMT):c.351G>A (p.Ser117=)
NM_000481.4(AMT):c.357T>C (p.Phe119=) rs1559529373
NM_000481.4(AMT):c.360C>T (p.Thr120=)
NM_000481.4(AMT):c.372A>C (p.Gly124=) rs1365568599
NM_000481.4(AMT):c.381A>G (p.Leu127=) rs2049077607
NM_000481.4(AMT):c.387C>T (p.Asp129=)
NM_000481.4(AMT):c.393T>C (p.Ile131=) rs2107933716
NM_000481.4(AMT):c.402T>C (p.Asn134=) rs2107933698
NM_000481.4(AMT):c.414C>T (p.Gly138=)
NM_000481.4(AMT):c.423T>C (p.Tyr141=)
NM_000481.4(AMT):c.432C>G (p.Ser144=) rs2107933634
NM_000481.4(AMT):c.450G>A (p.Glu150=)
NM_000481.4(AMT):c.471+10C>G
NM_000481.4(AMT):c.471+10C>T
NM_000481.4(AMT):c.471+11T>C
NM_000481.4(AMT):c.471+14G>A
NM_000481.4(AMT):c.471+19C>A
NM_000481.4(AMT):c.471+20T>C
NM_000481.4(AMT):c.471+8C>T rs367986797
NM_000481.4(AMT):c.471+9C>A rs760770619
NM_000481.4(AMT):c.471+9C>G
NM_000481.4(AMT):c.472-10T>C rs1211622746
NM_000481.4(AMT):c.472-11C>T
NM_000481.4(AMT):c.472-17G>C
NM_000481.4(AMT):c.472-19_472-18del
NM_000481.4(AMT):c.472-7C>T
NM_000481.4(AMT):c.472-8T>C
NM_000481.4(AMT):c.472-9G>A
NM_000481.4(AMT):c.474C>T (p.Asp158=) rs765176362
NM_000481.4(AMT):c.477G>A (p.Lys159=) rs2107932948
NM_000481.4(AMT):c.486G>A (p.Glu162=)
NM_000481.4(AMT):c.489T>G (p.Leu163=)
NM_000481.4(AMT):c.501C>A (p.Gly167=)
NM_000481.4(AMT):c.501C>G (p.Gly167=)
NM_000481.4(AMT):c.502A>C (p.Arg168=) rs2107932896
NM_000481.4(AMT):c.514C>T (p.Leu172=)
NM_000481.4(AMT):c.522G>A (p.Val174=)
NM_000481.4(AMT):c.523T>C (p.Leu175=) rs535318089
NM_000481.4(AMT):c.531T>C (p.Asn177=) rs2049066669
NM_000481.4(AMT):c.534C>T (p.Ala178=) rs928504970
NM_000481.4(AMT):c.538C>T (p.Leu180=) rs1559528976
NM_000481.4(AMT):c.546G>T (p.Leu182=)
NM_000481.4(AMT):c.550+10C>G
NM_000481.4(AMT):c.550+10_550+15del
NM_000481.4(AMT):c.550+12G>A
NM_000481.4(AMT):c.550+16T>C
NM_000481.4(AMT):c.550+17G>A
NM_000481.4(AMT):c.550+18G>C
NM_000481.4(AMT):c.550+7G>A rs755478633
NM_000481.4(AMT):c.550+9G>A
NM_000481.4(AMT):c.550+9G>T
NM_000481.4(AMT):c.551-11C>T rs760119523
NM_000481.4(AMT):c.551-15G>A
NM_000481.4(AMT):c.551-4C>T
NM_000481.4(AMT):c.551-6G>A rs937463808
NM_000481.4(AMT):c.551-9T>C
NM_000481.4(AMT):c.552C>A (p.Gly184=)
NM_000481.4(AMT):c.552C>T (p.Gly184=) rs771745221
NM_000481.4(AMT):c.561A>C (p.Ala187=) rs2107932359
NM_000481.4(AMT):c.579C>A (p.Ala193=) rs749313171
NM_000481.4(AMT):c.582C>A (p.Gly194=) rs377552553
NM_000481.4(AMT):c.585G>A (p.Val195=) rs2049060090
NM_000481.4(AMT):c.591T>C (p.Asp197=) rs2107932258
NM_000481.4(AMT):c.597G>A (p.Leu199=)
NM_000481.4(AMT):c.609C>A (p.Pro203=) rs1314175857
NM_000481.4(AMT):c.621T>C (p.Ser207=) rs2107932184
NM_000481.4(AMT):c.624T>C (p.Ala208=)
NM_000481.4(AMT):c.633G>A (p.Glu211=)
NM_000481.4(AMT):c.648T>C (p.Ser216=)
NM_000481.4(AMT):c.651C>T (p.Gly217=) rs1256823141
NM_000481.4(AMT):c.654C>T (p.Cys218=)
NM_000481.4(AMT):c.663C>A (p.Thr221=) rs2107932078
NM_000481.4(AMT):c.666C>A (p.Arg222=) rs2107932060
NM_000481.4(AMT):c.666C>T (p.Arg222=) rs2107932060
NM_000481.4(AMT):c.669T>C (p.Cys223=) rs2107932045
NM_000481.4(AMT):c.681A>G (p.Gly227=) rs2107932020
NM_000481.4(AMT):c.687T>C (p.Asp229=) rs1292063206
NM_000481.4(AMT):c.690T>C (p.Gly230=)
NM_000481.4(AMT):c.693G>A (p.Val231=)
NM_000481.4(AMT):c.696+10G>A
NM_000481.4(AMT):c.696+15G>A
NM_000481.4(AMT):c.696+16_696+18del
NM_000481.4(AMT):c.696+19T>C
NM_000481.4(AMT):c.696+20G>T
NM_000481.4(AMT):c.696+9A>G
NM_000481.4(AMT):c.696+9A>T rs758602446
NM_000481.4(AMT):c.697-10T>C rs2107931790
NM_000481.4(AMT):c.697-17T>C
NM_000481.4(AMT):c.697-18C>T
NM_000481.4(AMT):c.697-19C>T
NM_000481.4(AMT):c.697-20C>T
NM_000481.4(AMT):c.697-7C>T rs2107931789
NM_000481.4(AMT):c.697-8T>G
NM_000481.4(AMT):c.699C>A (p.Ile233=) rs369840558
NM_000481.4(AMT):c.705G>T (p.Val235=) rs1324646911
NM_000481.4(AMT):c.708G>A (p.Pro236=) rs760662679
NM_000481.4(AMT):c.708G>C (p.Pro236=)
NM_000481.4(AMT):c.714G>A (p.Ala238=) rs772179698
NM_000481.4(AMT):c.714G>C (p.Ala238=)
NM_000481.4(AMT):c.714G>T (p.Ala238=) rs772179698
NM_000481.4(AMT):c.732A>C (p.Ala244=)
NM_000481.4(AMT):c.732A>G (p.Ala244=) rs2049053045
NM_000481.4(AMT):c.738T>A (p.Ala246=) rs746145744
NM_000481.4(AMT):c.738T>C (p.Ala246=)
NM_000481.4(AMT):c.753A>G (p.Pro251=)
NM_000481.4(AMT):c.756G>A (p.Glu252=)
NM_000481.4(AMT):c.765G>A (p.Leu255=)
NM_000481.4(AMT):c.768A>T (p.Ala256=)
NM_000481.4(AMT):c.771G>A (p.Gly257=) rs1575304815
NM_000481.4(AMT):c.771G>C (p.Gly257=)
NM_000481.4(AMT):c.774G>A (p.Leu258=) rs756652661
NM_000481.4(AMT):c.786C>T (p.Asp262=)
NM_000481.4(AMT):c.796C>T (p.Leu266=)
NM_000481.4(AMT):c.810C>T (p.Leu270=) rs2107931481
NM_000481.4(AMT):c.813C>T (p.Cys271=) rs2107931474
NM_000481.4(AMT):c.840C>T (p.His280=) rs759675831
NM_000481.4(AMT):c.843T>A (p.Thr281=)
NM_000481.4(AMT):c.843T>G (p.Thr281=) rs774244896
NM_000481.4(AMT):c.849T>A (p.Pro283=)
NM_000481.4(AMT):c.855G>A (p.Glu285=) rs2049049754
NM_000481.4(AMT):c.867T>C (p.Ser289=) rs1342940505
NM_000481.4(AMT):c.877+16A>C
NM_000481.4(AMT):c.877+17C>T
NM_000481.4(AMT):c.877+18T>C
NM_000481.4(AMT):c.877+7T>G rs2107931324
NM_000481.4(AMT):c.877+9G>A
NM_000481.4(AMT):c.877+9G>C
NM_000481.4(AMT):c.878-11del
NM_000481.4(AMT):c.878-12G>A
NM_000481.4(AMT):c.878-15T>C rs771225879
NM_000481.4(AMT):c.878-16A>T rs904011401
NM_000481.4(AMT):c.878-19C>G
NM_000481.4(AMT):c.878-19C>T
NM_000481.4(AMT):c.878-6dup rs2107929373
NM_000481.4(AMT):c.878-7T>C
NM_000481.4(AMT):c.878-7del
NM_000481.4(AMT):c.878-8T>C rs2107929385
NM_000481.4(AMT):c.878-9A>G
NM_000481.4(AMT):c.879G>A (p.Gly293=) rs972670254
NM_000481.4(AMT):c.906C>T (p.Phe302=)
NM_000481.4(AMT):c.91-10C>A
NM_000481.4(AMT):c.91-14C>T
NM_000481.4(AMT):c.91-20C>G
NM_000481.4(AMT):c.91-7C>T rs758737016
NM_000481.4(AMT):c.930C>G (p.Pro310=)
NM_000481.4(AMT):c.930C>T (p.Pro310=)
NM_000481.4(AMT):c.948G>A (p.Val316=) rs1575303144
NM_000481.4(AMT):c.957G>A (p.Arg319=)
NM_000481.4(AMT):c.99C>T (p.Leu33=) rs2107937805

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