ClinVar Miner

List of variants reported as pathogenic for amino acid or protein metabolism disease with epilepsy by OMIM

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 160
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HGVS dbSNP
AMT, 1-BP DEL, 183C
ASPA, 1-BP DEL, 32T
ASPA, 4-BP DEL, 876AGAA
ASPA, EX4DEL
GCSH, COMPLEX REARRANGEMENT (1 patient)
GLDC, 2607C-A
GLDC, 30-KB DEL
L2HGDH, EX1-9DEL
NC_000022.11:g.(?_18906222)_(18936553_?)del
NM_000049.3(ASPA):c.454T>C (p.Cys152Arg) rs104894548
NM_000049.3(ASPA):c.746A>T (p.Asp249Val) rs104894552
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574
NM_000071.2(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.1397C>T (p.Ser466Leu) rs121964971
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962
NM_000170.2(GLDC):c.1166C>T (p.Ala389Val) rs121964979
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.1691G>T (p.Ser564Ile) rs121964974
NM_000170.2(GLDC):c.2216G>A (p.Arg739His) rs121964980
NM_000170.2(GLDC):c.2267_2269del (p.Phe756del) rs121964975
NM_000170.2(GLDC):c.2281G>C (p.Gly761Arg) rs386833549
NM_000170.2(GLDC):c.2405C>T (p.Ala802Val) rs121964977
NM_000170.2(GLDC):c.2T>C (p.Met1Thr) rs121964978
NM_000277.1(PAH):c.169-4950_352+1467delinsGGCACCTG
NM_000277.1(PAH):c.913_1199del (p.Ile306Leufs)
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646
NM_000277.3(PAH):c.1066-11G>A rs5030855
NM_000277.3(PAH):c.1066-3C>T rs62507344
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1076C>G (p.Ser359Ter) rs5030854
NM_000277.3(PAH):c.1092_1094del (p.Leu365del) rs62516096
NM_000277.3(PAH):c.1092_1106del (p.Leu365_Leu369del) rs62516097
NM_000277.3(PAH):c.1129del (p.Tyr377fs) rs62642941
NM_000277.3(PAH):c.1162G>A (p.Val388Met) rs62516101
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926
NM_000277.3(PAH):c.1197A>T (p.Val399=) rs199475584
NM_000277.3(PAH):c.1220C>T (p.Pro407Leu) rs62644473
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro) rs79931499
NM_000277.3(PAH):c.1315+1G>A rs5030861
NM_000277.3(PAH):c.136G>A (p.Gly46Ser) rs74603784
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841
NM_000277.3(PAH):c.165del (p.Phe55fs) rs199475566
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891
NM_000277.3(PAH):c.281_283TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470
NM_000277.3(PAH):c.3G>A (p.Met1Ile) rs62514893
NM_000277.3(PAH):c.442-1G>A rs62514907
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys) rs62514927
NM_000277.3(PAH):c.662A>G (p.Glu221Gly) rs62514934
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588
NM_000277.3(PAH):c.731C>T (p.Pro244Leu) rs118203923
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.764T>C (p.Leu255Ser) rs62642930
NM_000277.3(PAH):c.776C>T (p.Ala259Val) rs118203921
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952
NM_000277.3(PAH):c.818C>T (p.Ser273Phe) rs62514953
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000277.3(PAH):c.842+2T>A rs62514955
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933
NM_000277.3(PAH):c.932T>C (p.Leu311Pro) rs62642936
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958
NM_000277.3(PAH):c.977G>A (p.Trp326Ter) rs62514959
NM_000481.3(AMT):c.878-1G>A rs181134220
NM_000481.4(AMT):c.125A>G (p.His42Arg) rs121964983
NM_000481.4(AMT):c.139G>A (p.Gly47Arg) rs121964982
NM_000481.4(AMT):c.350C>T (p.Ser117Leu) rs769468125
NM_000481.4(AMT):c.574C>T (p.Gln192Ter) rs121964986
NM_000481.4(AMT):c.806G>A (p.Gly269Asp) rs121964981
NM_000481.4(AMT):c.826G>C (p.Asp276His) rs121964984
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985
NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp) rs1300848445
NM_001001563.5(TIMM50):c.446C>T (p.Thr149Met) rs1244226820
NM_001024845.3(SLC6A9):c.1000A>G (p.Ser334Gly) rs1057519313
NM_001024845.3(SLC6A9):c.1498C>T (p.Gln500Ter) rs1057519314
NM_001024845.3(SLC6A9):c.709_713del (p.Lys237fs) rs1057519315
NM_001289910.1(IDH2):c.262C>G (p.Arg88Gly) rs267606870
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502
NM_001321336.1(SPATA22):c.-73-6832T>C rs104894551
NM_001321336.1(SPATA22):c.-74+19005T>C rs104894550
NM_001321336.1(SPATA22):c.-74+19043G>T rs104894549
NM_001358530.2(MOCS1):c.1506_1507AG[1] (p.Glu503fs) rs397518419
NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp) rs104893970
NM_001358530.2(MOCS1):c.418+1G>A rs141982812
NM_001358530.2(MOCS1):c.722del (p.Leu241fs) rs397518418
NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln) rs104893969
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.1228G>A (p.Gly410Ser) rs387906409
NM_001609.3(ACADSB):c.303+3A>G rs1345480688
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001609.3(ACADSB):c.763C>T (p.Leu255Phe) rs137852649
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu) rs137852937
NM_003748.4(ALDH4A1):c.1560dup (p.Gly521fs) rs779536510
NM_003748.4(ALDH4A1):c.21del (p.Leu8fs) rs387906314
NM_004531.5(MOCS2):c.-169G>T rs121908608
NM_004531.5(MOCS2):c.-633C>T rs121908607
NM_004531.5(MOCS2):c.-656_-634del rs397518417
NM_004531.5(MOCS2):c.346_349del (p.Val116fs) rs398122798
NM_004531.5(MOCS2):c.3G>A (p.Met1Ile) rs121908606
NM_004531.5(MOCS2):c.502G>A (p.Glu168Lys) rs121908605
NM_004531.5(MOCS2):c.539_540del (p.Lys180fs) rs398122797
NM_004531.5(MOCS2):c.567A>C (p.Ter189Tyr) rs121908609
NM_004531.5(MOCS2):c.65dup (p.Leu23fs) rs398122799
NM_005881.3c.222delG
NM_005881.4(BCKDK):c.466C>T (p.Arg156Ter) rs397514573
NM_005881.4(BCKDK):c.671G>C (p.Arg224Pro) rs147210405
NM_005984.5(SLC25A1):c.389G>A (p.Gly130Asp) rs368647424
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) rs483352911
NM_005984.5(SLC25A1):c.821C>T (p.Ala274Val) rs483352910
NM_005984.5(SLC25A1):c.844C>G (p.Arg282Gly) rs431905509
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys) rs431905509
NM_005984.5(SLC25A1):c.845G>A (p.Arg282His) rs431905510
NM_016335.5(PRODH):c.1292G>A (p.Arg431His) rs2904552
NM_016335.5(PRODH):c.1322T>C (p.Leu441Pro) rs2904551
NM_016335.5(PRODH):c.1363G>T (p.Ala455Ser) rs1807467
NM_016335.5(PRODH):c.1397C>T (p.Thr466Met) rs2870984
NM_016335.5(PRODH):c.865T>A (p.Leu289Met) rs137852934
NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys) rs3970559
NM_016335.6(PRODH):c.1561C>G (p.Arg521Gly) rs193919334
NM_016335.6(PRODH):c.1562= (p.Arg521=) rs450046
NM_020806.4(GPHN):c.1838A>C (p.Asp613Ala) rs397518420
NM_020806.4(GPHN):c.65-?_201+?del
NM_021800.2(DNAJC12):c.298-968_503-2603del
NM_021800.3(DNAJC12):c.158-2A>T rs775029664
NM_021800.3(DNAJC12):c.187A>T (p.Lys63Ter)
NM_021800.3(DNAJC12):c.214C>T (p.Arg72Ter)
NM_021800.3(DNAJC12):c.215G>C (p.Arg72Pro) rs1035794099
NM_021800.3(DNAJC12):c.58_59del (p.Gly20fs)
NM_021800.3(DNAJC12):c.596G>T (p.Ter199Leu)
NM_021800.3(DNAJC12):c.79-2A>G
NM_021800.3(DNAJC12):c.85del (p.Gln29fs)
NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter) rs387907013
NM_024884.3(L2HGDH):c.1115del (p.Met372fs) rs786200869
NM_024884.3(L2HGDH):c.164G>A (p.Gly55Asp) rs118204021
NM_024884.3(L2HGDH):c.293A>G (p.His98Arg) rs267607206
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu) rs118204020
NM_024884.3(L2HGDH):c.906+1G>T rs786200870
NM_152783.5(D2HGDH):c.1123G>T (p.Asp375Tyr) rs267606759
NM_152783.5(D2HGDH):c.1315A>G (p.Asn439Asp) rs121434362
NM_152783.5(D2HGDH):c.1331T>C (p.Val444Ala) rs121434360
NM_152783.5(D2HGDH):c.293-23A>G rs145731647
NM_152783.5(D2HGDH):c.325_326dup (p.Glu110fs) rs749330477
NM_152783.5(D2HGDH):c.440T>G (p.Ile147Ser) rs121434361
NM_152783.5(D2HGDH):c.685-2A>G rs753528947
PAH, SER349ARG

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