ClinVar Miner

List of variants reported as likely benign for amino acid or protein metabolism disease with epilepsy by Invitae

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 246
Download table as spreadsheet
HGVS dbSNP
NM_000049.3(ASPA):c.427A>G (p.Ile143Val) rs199565861
NM_000049.3(ASPA):c.906G>A (p.Thr302=) rs371394875
NM_000049.3(ASPA):c.927C>T (p.Arg309=) rs749049390
NM_000049.4(ASPA):c.237-6T>C rs370219865
NM_000071.2(CBS):c.1040-6C>G rs767372401
NM_000071.2(CBS):c.1065G>A (p.Ala355=) rs748552493
NM_000071.2(CBS):c.1074G>A (p.Val358=) rs570135008
NM_000071.2(CBS):c.1125C>T (p.Pro375=) rs146180894
NM_000071.2(CBS):c.1145+9C>T rs745997797
NM_000071.2(CBS):c.1146-7C>T rs376749931
NM_000071.2(CBS):c.1161C>T (p.Ser387=) rs149280976
NM_000071.2(CBS):c.1209G>A (p.Thr403=) rs199967147
NM_000071.2(CBS):c.1266G>A (p.Pro422=) rs150146702
NM_000071.2(CBS):c.1272C>T (p.Thr424=) rs141717913
NM_000071.2(CBS):c.1287C>T (p.Ile429=) rs770442169
NM_000071.2(CBS):c.1338G>A (p.Ala446=) rs373962057
NM_000071.2(CBS):c.133C>T (p.Arg45Trp) rs201372812
NM_000071.2(CBS):c.1341C>T (p.Pro447=) rs371493662
NM_000071.2(CBS):c.1359-9G>A rs202137317
NM_000071.2(CBS):c.1380G>A (p.Thr460=) rs765134080
NM_000071.2(CBS):c.138C>T (p.Pro46=) rs532584017
NM_000071.2(CBS):c.1413G>C (p.Gly471=) rs777859460
NM_000071.2(CBS):c.1425G>A (p.Pro475=) rs147885808
NM_000071.2(CBS):c.1479G>A (p.Thr493=) rs143225442
NM_000071.2(CBS):c.147G>A (p.Pro49=) rs771719483
NM_000071.2(CBS):c.1485G>A (p.Thr495=) rs369903148
NM_000071.2(CBS):c.1539C>T (p.His513=) rs187828882
NM_000071.2(CBS):c.1563C>T (p.Thr521=) rs773052594
NM_000071.2(CBS):c.1575T>C (p.Ser525=) rs150037641
NM_000071.2(CBS):c.1593C>T (p.Phe531=) rs768230991
NM_000071.2(CBS):c.1644G>C (p.Arg548=) rs143945898
NM_000071.2(CBS):c.183C>T (p.Ser61=) rs753906914
NM_000071.2(CBS):c.18C>T (p.Pro6=) rs777370660
NM_000071.2(CBS):c.215A>T (p.Lys72Ile) rs192232907
NM_000071.2(CBS):c.351C>T (p.Ser117=) rs769149281
NM_000071.2(CBS):c.384G>A (p.Glu128=) rs374593242
NM_000071.2(CBS):c.429C>T (p.Ile143=) rs370167302
NM_000071.2(CBS):c.435G>A (p.Pro145=) rs148782895
NM_000071.2(CBS):c.441C>T (p.Ser147=) rs367669819
NM_000071.2(CBS):c.456C>T (p.Ile152=) rs769438280
NM_000071.2(CBS):c.474G>A (p.Ala158=) rs189362155
NM_000071.2(CBS):c.501C>T (p.Ile167=) rs754246295
NM_000071.2(CBS):c.537C>T (p.Asp179=) rs769712423
NM_000071.2(CBS):c.609C>T (p.His203=) rs142313595
NM_000071.2(CBS):c.612G>C (p.Val204=) rs539670390
NM_000071.2(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.2(CBS):c.625C>A (p.Arg209=) rs137939628
NM_000071.2(CBS):c.667-10_667-7del rs376011228
NM_000071.2(CBS):c.675C>T (p.Asn225=) rs145303290
NM_000071.2(CBS):c.708C>T (p.Thr236=) rs748495689
NM_000071.2(CBS):c.72G>A (p.Ala24=) rs145466242
NM_000071.2(CBS):c.903C>T (p.Tyr301=) rs746575551
NM_000071.2(CBS):c.924C>T (p.Tyr308=) rs149809170
NM_000071.2(CBS):c.981C>T (p.Asn327=) rs777898632
NM_000071.3(CBS):c.1041T>A (p.Gly347=) rs573954005
NM_000071.3(CBS):c.1223+8C>A rs747888658
NM_000071.3(CBS):c.1251G>A (p.Leu417=) rs764079534
NM_000071.3(CBS):c.1326C>G (p.Gly442=) rs750627927
NM_000071.3(CBS):c.1356G>A (p.Ala452=) rs776322450
NM_000071.3(CBS):c.1410C>T (p.Ala470=) rs773019624
NM_000071.3(CBS):c.1512G>A (p.Glu504=) rs149170219
NM_000071.3(CBS):c.339C>T (p.Asn113=) rs140879135
NM_000071.3(CBS):c.489T>C (p.Tyr163=) rs61735858
NM_000071.3(CBS):c.525C>T (p.Ser175=) rs767850964
NM_000071.3(CBS):c.687C>T (p.Pro229=) rs769298649
NM_000071.3(CBS):c.69G>A (p.Ser23=) rs769704501
NM_000071.3(CBS):c.717G>A (p.Glu239=) rs372797469
NM_000071.3(CBS):c.737-10C>T rs546751042
NM_000071.3(CBS):c.829-8C>G rs750081937
NM_000071.3(CBS):c.93G>T (p.Gly31=) rs754409674
NM_000071.3(CBS):c.993G>A (p.Ala331=) rs759398443
NM_000170.2(GLDC):c.1278G>A (p.Gly426=) rs1554647023
NM_000170.2(GLDC):c.1331G>A (p.Cys444Tyr) rs142099123
NM_000170.2(GLDC):c.1453T>C (p.Leu485=) rs760562478
NM_000170.2(GLDC):c.1483-6C>T rs1442788186
NM_000170.2(GLDC):c.1618A>C (p.Lys540Gln) rs140516872
NM_000170.2(GLDC):c.1665+7A>T rs759573888
NM_000170.2(GLDC):c.1752T>C (p.Pro584=) rs150647379
NM_000170.2(GLDC):c.190G>T (p.Ala64Ser) rs141601131
NM_000170.2(GLDC):c.1927-4G>A rs576723612
NM_000170.2(GLDC):c.1932C>T (p.Cys644=) rs111348076
NM_000170.2(GLDC):c.2024A>C (p.Asn675Thr) rs749513146
NM_000170.2(GLDC):c.2126A>G (p.Asn709Ser) rs150943866
NM_000170.2(GLDC):c.2244G>A (p.Ser748=) rs372693840
NM_000170.2(GLDC):c.2283A>G (p.Gly761=) rs1554643744
NM_000170.2(GLDC):c.2304G>A (p.Gly768=) rs533775952
NM_000170.2(GLDC):c.2352C>T (p.Pro784=) rs367781728
NM_000170.2(GLDC):c.2409C>T (p.Ala803=) rs1554643608
NM_000170.2(GLDC):c.2487C>T (p.Ala829=) rs141806715
NM_000170.2(GLDC):c.2665+10T>C rs774684209
NM_000170.2(GLDC):c.2683A>G (p.Met895Val) rs141152043
NM_000170.2(GLDC):c.2832G>A (p.Pro944=) rs764242927
NM_000170.2(GLDC):c.2964G>A (p.Arg988=) rs146045718
NM_000170.2(GLDC):c.2964G>C (p.Arg988=) rs146045718
NM_000170.2(GLDC):c.327C>T (p.Asp109=) rs1181706015
NM_000170.2(GLDC):c.40C>A (p.Arg14Ser) rs182760732
NM_000170.2(GLDC):c.619C>G (p.Leu207Val) rs142181803
NM_000170.2(GLDC):c.642C>T (p.Asn214=) rs775546889
NM_000170.3(GLDC):c.103C>A (p.Arg35=) rs764400486
NM_000170.3(GLDC):c.1080G>T (p.Val360=) rs745502236
NM_000170.3(GLDC):c.1149A>G (p.Thr383=) rs146499591
NM_000170.3(GLDC):c.114C>T (p.Ser38=) rs1315587398
NM_000170.3(GLDC):c.1155+9C>G rs994997633
NM_000170.3(GLDC):c.1161C>A (p.Leu387=) rs781613958
NM_000170.3(GLDC):c.1167G>C (p.Ala389=) rs199901045
NM_000170.3(GLDC):c.1210C>T (p.Leu404=) rs781450542
NM_000170.3(GLDC):c.1242C>T (p.Ala414=) rs761471932
NM_000170.3(GLDC):c.1262-4G>A rs549797631
NM_000170.3(GLDC):c.1332C>T (p.Cys444=) rs781050148
NM_000170.3(GLDC):c.1359C>T (p.Ala453=) rs766839627
NM_000170.3(GLDC):c.1401+9A>G rs75555848
NM_000170.3(GLDC):c.147C>T (p.Ala49=) rs994081399
NM_000170.3(GLDC):c.1554G>A (p.Pro518=) rs377219563
NM_000170.3(GLDC):c.1554G>C (p.Pro518=) rs377219563
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp)
NM_000170.3(GLDC):c.1851-9C>G rs377751310
NM_000170.3(GLDC):c.1851C>T (p.Ser617=) rs777724341
NM_000170.3(GLDC):c.1893C>T (p.Ala631=) rs565751857
NM_000170.3(GLDC):c.190G>A (p.Ala64Thr) rs141601131
NM_000170.3(GLDC):c.1926+6T>C rs200007891
NM_000170.3(GLDC):c.1941G>A (p.Pro647=) rs1232468588
NM_000170.3(GLDC):c.1953T>C (p.His651=) rs777613879
NM_000170.3(GLDC):c.1974C>A (p.Ala658=) rs534062853
NM_000170.3(GLDC):c.2097C>T (p.Tyr699=) rs149694787
NM_000170.3(GLDC):c.2160T>C (p.His720=) rs758841885
NM_000170.3(GLDC):c.2175C>T (p.Tyr725=) rs147951756
NM_000170.3(GLDC):c.2202+8C>A rs577906178
NM_000170.3(GLDC):c.2229C>T (p.Phe743=) rs144317480
NM_000170.3(GLDC):c.2271C>T (p.Cys757=) rs770961258
NM_000170.3(GLDC):c.2307C>T (p.Pro769=) rs565834029
NM_000170.3(GLDC):c.2328C>T (p.Leu776=) rs149600380
NM_000170.3(GLDC):c.2352C>G (p.Pro784=) rs367781728
NM_000170.3(GLDC):c.2406G>A (p.Ala802=) rs368811775
NM_000170.3(GLDC):c.255+8C>T rs202086134
NM_000170.3(GLDC):c.2565A>C (p.Ala855=) rs966395392
NM_000170.3(GLDC):c.258C>T (p.Ser86=) rs562000292
NM_000170.3(GLDC):c.2601G>A (p.Thr867=) rs371678175
NM_000170.3(GLDC):c.261T>C (p.Ile87=) rs776700682
NM_000170.3(GLDC):c.2703G>C (p.Gly901=) rs369767254
NM_000170.3(GLDC):c.2821A>C (p.Arg941=) rs1587909520
NM_000170.3(GLDC):c.2838+10C>T rs1587909491
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile) rs148540696
NM_000170.3(GLDC):c.2874C>T (p.Ser958=) rs146339375
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn) rs555776146
NM_000170.3(GLDC):c.489A>G (p.Pro163=) rs770044310
NM_000170.3(GLDC):c.576C>G (p.Ala192=) rs768514155
NM_000170.3(GLDC):c.609C>T (p.Ala203=) rs201699152
NM_000170.3(GLDC):c.78G>C (p.Ser26=) rs915226152
NM_000170.3(GLDC):c.81G>A (p.Gly27=) rs1457809070
NM_000170.3(GLDC):c.831G>A (p.Thr277=) rs369824891
NM_000170.3(GLDC):c.84G>T (p.Pro28=) rs1259938806
NM_000170.3(GLDC):c.96G>T (p.Pro32=) rs1430526811
NM_000170.3(GLDC):c.972G>A (p.Leu324=) rs754536865
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu) rs62517206
NM_000277.3(PAH):c.1140G>A (p.Thr380=) rs373763334
NM_000277.3(PAH):c.1161C>T (p.Tyr387=) rs149595475
NM_000277.3(PAH):c.399T>C (p.Asn133=) rs145692106
NM_000277.3(PAH):c.424C>T (p.Leu142=) rs375364629
NM_000277.3(PAH):c.442-4C>G rs987125136
NM_000277.3(PAH):c.456T>C (p.Pro152=) rs377244118
NM_000277.3(PAH):c.588C>T (p.Ser196=) rs755420480
NM_000277.3(PAH):c.609C>T (p.Cys203=) rs1801147
NM_000277.3(PAH):c.681G>A (p.Leu227=) rs182135145
NM_000277.3(PAH):c.894C>T (p.Ser298=) rs765823928
NM_000277.3(PAH):c.969+7C>T rs80324017
NM_000481.3(AMT):c.91-9C>T rs761235679
NM_000481.4(AMT):c.1029G>A (p.Lys343=) rs1553638253
NM_000481.4(AMT):c.1062C>A (p.Pro354=) rs377227163
NM_000481.4(AMT):c.123C>T (p.Phe41=) rs774066970
NM_000481.4(AMT):c.126C>T (p.His42=) rs761195733
NM_000481.4(AMT):c.174A>G (p.Pro58=) rs1356238437
NM_000481.4(AMT):c.231G>A (p.Ser77=) rs779002947
NM_000481.4(AMT):c.363C>T (p.Asn121=) rs367604855
NM_000481.4(AMT):c.471+9C>T rs760770619
NM_000481.4(AMT):c.555C>T (p.Pro185=) rs144790394
NM_000481.4(AMT):c.589G>C (p.Asp197His) rs200550585
NM_000481.4(AMT):c.696+10G>T rs750787542
NM_000481.4(AMT):c.789C>T (p.Ser263=) rs753177107
NM_000481.4(AMT):c.961G>A (p.Val321Met) rs149457059
NM_001024845.3(SLC6A9):c.120C>T (p.Ser40=) rs571004944
NM_001024845.3(SLC6A9):c.1653C>T (p.Ile551=) rs202054416
NM_001024845.3(SLC6A9):c.1810G>A (p.Gly604Ser) rs61733177
NM_001024845.3(SLC6A9):c.468C>T (p.Cys156=) rs777756958
NM_001024845.3(SLC6A9):c.517G>A (p.Ala173Thr) rs142642003
NM_001024845.3(SLC6A9):c.528C>T (p.Ser176=) rs139332952
NM_001032386.2(SUOX):c.1297C>T (p.Arg433Trp) rs61733163
NM_001032386.2(SUOX):c.50+9G>A rs368327991
NM_001032386.2(SUOX):c.574C>T (p.Arg192Trp) rs139444405
NM_001032386.2(SUOX):c.596C>T (p.Pro199Leu) rs769660984
NM_001289910.1(IDH2):c.204G>A (p.Glu68=) rs536071174
NM_001289910.1(IDH2):c.517G>A (p.Asp173Asn) rs142816010
NM_001358530.2(MOCS1):c.519T>G (p.Ser173Arg) rs61732596
NM_001609.3(ACADSB):c.795C>T (p.Phe265=) rs150619709
NM_001609.4(ACADSB):c.1101G>A (p.Ala367=) rs145295182
NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys) rs140747102
NM_002168.4(IDH2):c.1003G>A (p.Val335Ile) rs140596855
NM_002168.4(IDH2):c.120C>T (p.Ala40=) rs148974231
NM_002168.4(IDH2):c.141G>A (p.Ala47=) rs145802942
NM_002168.4(IDH2):c.276T>C (p.Thr92=) rs774212594
NM_002168.4(IDH2):c.535-6C>T rs760220786
NM_003748.4(ALDH4A1):c.108C>T (p.Pro36=) rs768297819
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg) rs149414160
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=) rs146222625
NM_003748.4(ALDH4A1):c.1385A>C (p.Lys462Thr) rs150762865
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met) rs76762510
NM_003748.4(ALDH4A1):c.678+3G>A rs138788183
NM_004483.4(GCSH):c.293-4T>C rs1555529308
NM_004483.5(GCSH):c.72G>T (p.Ala24=) rs1010129827
NM_004483.5(GCSH):c.75C>T (p.Pro25=) rs958918692
NM_004483.5(GCSH):c.84G>A (p.Pro28=) rs775381594
NM_005881.4(BCKDK):c.1218G>A (p.Arg406=) rs145180240
NM_005881.4(BCKDK):c.372C>T (p.His124=) rs148112682
NM_005881.4(BCKDK):c.588G>A (p.Ser196=) rs150773521
NM_005881.4(BCKDK):c.717-5C>T rs1291981908
NM_005881.4(BCKDK):c.721C>T (p.Leu241=) rs374121679
NM_005881.4(BCKDK):c.936-10A>G rs374677650
NM_016335.5(PRODH):c.1173C>T (p.Ser391=) rs3970556
NM_016335.5(PRODH):c.1397C>T (p.Thr466Met) rs2870984
NM_016335.5(PRODH):c.1463A>G (p.Asn488Ser) rs139903009
NM_016335.5(PRODH):c.21G>A (p.Leu7=) rs539772713
NM_016335.5(PRODH):c.417C>T (p.Ser139=) rs1414061185
NM_016335.5(PRODH):c.42T>C (p.Ile14=) rs761010757
NM_020806.4(GPHN):c.1173T>C (p.Asp391=) rs147709250
NM_020806.4(GPHN):c.1191T>C (p.Asn397=) rs535587671
NM_020806.4(GPHN):c.1414-10G>C rs1595186662
NM_020806.4(GPHN):c.144-10C>T rs199759192
NM_020806.4(GPHN):c.165A>G (p.Ala55=) rs753182110
NM_020806.4(GPHN):c.1911-6T>C rs369800026
NM_020806.4(GPHN):c.1911-7C>T rs201555766
NM_020806.4(GPHN):c.1944T>C (p.Asp648=) rs761997982
NM_020806.4(GPHN):c.1971A>C (p.Leu657=) rs150799851
NM_020806.4(GPHN):c.2124G>A (p.Arg708=) rs761412853
NM_020806.4(GPHN):c.2192G>C (p.Ser731Thr) rs142608987
NM_020806.4(GPHN):c.327A>G (p.Pro109=) rs1555430196
NM_020806.4(GPHN):c.369A>G (p.Thr123=) rs767272331
NM_020806.4(GPHN):c.633A>G (p.Gln211=) rs151322023
NM_020806.4(GPHN):c.651A>G (p.Glu217=) rs1009464001
NM_020806.4(GPHN):c.800A>G (p.Asn267Ser) rs41285470
NM_024884.3(L2HGDH):c.1174A>G (p.Ile392Val) rs373172891
NM_024884.3(L2HGDH):c.137C>T (p.Thr46Ile) rs201806251
NM_024884.3(L2HGDH):c.600G>A (p.Leu200=) rs748499389
NM_024884.3(L2HGDH):c.663T>C (p.Gly221=) rs201951588
NM_024884.3(L2HGDH):c.756T>C (p.Cys252=) rs141562044
NM_152783.5(D2HGDH):c.1140+8G>A rs369135156
NM_152783.5(D2HGDH):c.351-8C>T rs368141783
NM_152783.5(D2HGDH):c.963C>T (p.Val321=) rs141524359

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.