ClinVar Miner

List of variants reported as likely benign for amino acid or protein metabolism disease with epilepsy by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 122
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HGVS dbSNP
NM_000049.3(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000071.2(CBS):c.*34G>A rs374464201
NM_000071.2(CBS):c.*383C>T rs73372352
NM_000071.2(CBS):c.-160C>T rs112271970
NM_000071.2(CBS):c.1145+7C>T rs201158177
NM_000071.2(CBS):c.1358+15C>G rs186497436
NM_000071.2(CBS):c.1359-14C>T rs115185587
NM_000071.2(CBS):c.1494G>A (p.Arg498=) rs778800147
NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) rs150828989
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
NM_000071.2(CBS):c.954+8G>A rs76292057
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000170.2(GLDC):c.*257G>A rs111326356
NM_000170.2(GLDC):c.*557C>G rs73639311
NM_000170.2(GLDC):c.-186del rs140030144
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000170.2(GLDC):c.1331G>A (p.Cys444Tyr) rs142099123
NM_000170.2(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.2(GLDC):c.1581-5C>T rs184463452
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1707+8G>A rs144666843
NM_000170.2(GLDC):c.1927-9A>G rs41281773
NM_000170.2(GLDC):c.2203G>T (p.Val735Leu) rs143119940
NM_000170.2(GLDC):c.2490G>T (p.Thr830=) rs145407593
NM_000170.2(GLDC):c.2683A>G (p.Met895Val) rs141152043
NM_000170.2(GLDC):c.2748G>A (p.Leu916=) rs139982267
NM_000170.2(GLDC):c.52G>T (p.Gly18Cys) rs535143891
NM_000170.2(GLDC):c.671G>A (p.Arg224His) rs28617412
NM_000170.2(GLDC):c.678C>T (p.His226=) rs12006003
NM_000170.3(GLDC):c.*229C>G
NM_000170.3(GLDC):c.*236G>T
NM_000277.3(PAH):c.*144A>G rs375319584
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292
NM_000456.2(SUOX):c.-326A>T rs143315090
NM_000481.4(AMT):c.*130G>T rs143731179
NM_000481.4(AMT):c.*416C>T
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107
NM_000481.4(AMT):c.148G>T (p.Val50Leu) rs148917929
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_001032386.2(SUOX):c.-11+1604T>G rs534066397
NM_001032386.2(SUOX):c.-11+1613C>T rs139170103
NM_001032386.2(SUOX):c.1050T>C (p.Tyr350=) rs184819190
NM_001032386.2(SUOX):c.1297C>T (p.Arg433Trp) rs61733163
NM_001032386.2(SUOX):c.1358G>A (p.Gly453Asp) rs76537761
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896
NM_001354304.2(PAH):c.-95-129G>A rs886048892
NM_001354304.2(PAH):c.-95-360del rs113191080
NM_001354304.2(PAH):c.-95-385_-95-382del rs147576673
NM_001354304.2(PAH):c.-95-52C>T rs62517177
NM_001358530.2(MOCS1):c.*120C>T
NM_001358530.2(MOCS1):c.*1348_*1351dup rs397953334
NM_001358530.2(MOCS1):c.*1389dup rs144859841
NM_001358530.2(MOCS1):c.*1424C>G rs151159237
NM_001358530.2(MOCS1):c.*1629G>A
NM_001358530.2(MOCS1):c.*1660_*1663ATAG[1] rs112059918
NM_001358530.2(MOCS1):c.*1909A>G rs73732316
NM_001358530.2(MOCS1):c.*1911C>A
NM_001358530.2(MOCS1):c.*327G>A rs112129067
NM_001358530.2(MOCS1):c.*523_*527TCCTG[4] rs138907488
NM_001358530.2(MOCS1):c.*826A>C
NM_001358530.2(MOCS1):c.*908_*911AATC[3] rs3839624
NM_001358530.2(MOCS1):c.*990T>C rs192141515
NM_001358530.2(MOCS1):c.1752G>A (p.Arg584=) rs77225343
NM_001609.3(ACADSB):c.*1445A>T rs182952282
NM_001609.3(ACADSB):c.*1826C>T rs568834686
NM_001609.3(ACADSB):c.*1920G>T rs141894735
NM_001609.3(ACADSB):c.*2227A>G rs149926796
NM_001609.3(ACADSB):c.*30G>A rs141805585
NM_001609.3(ACADSB):c.*3130A>G rs41291348
NM_001609.3(ACADSB):c.*3907C>G rs185346880
NM_001609.3(ACADSB):c.*78C>T rs117078411
NM_001609.3(ACADSB):c.-102dup rs201117089
NM_001609.3(ACADSB):c.-123G>A rs72839755
NM_001609.4(ACADSB):c.*1326A>G
NM_001609.4(ACADSB):c.*2086G>A
NM_001609.4(ACADSB):c.*2224A>G
NM_001609.4(ACADSB):c.*3517A>G
NM_001609.4(ACADSB):c.1228+20_1228+21del rs11307362
NM_002203.4(ITGA2):c.*1252G>A rs1042324
NM_002203.4(ITGA2):c.*1764del rs3212655
NM_002203.4(ITGA2):c.*2505_*2508CAAA[3] rs72277253
NM_002203.4(ITGA2):c.*2570C>A rs1900182
NM_002203.4(ITGA2):c.*2570C>T rs1900182
NM_002203.4(ITGA2):c.*2574C>G rs75427194
NM_002203.4(ITGA2):c.*2939C>T rs7700416
NM_002203.4(ITGA2):c.*3164G>A rs7737412
NM_002203.4(ITGA2):c.*3763_*3764del rs145759303
NM_002203.4(ITGA2):c.*3918G>C rs10471829
NM_002203.4(ITGA2):c.*4045_*4047AGT[1] rs71727762
NM_002203.4(ITGA2):c.*4098C>G rs10471830
NM_002203.4(ITGA2):c.*760_*761insTTAT rs3212652
NM_003748.4(ALDH4A1):c.*35C>T rs2230710
NM_003748.4(ALDH4A1):c.*903C>T rs148846466
NM_003748.4(ALDH4A1):c.-4C>A rs9426797
NM_003748.4(ALDH4A1):c.-7A>G rs9426679
NM_003748.4(ALDH4A1):c.1086G>A (p.Pro362=) rs41310410
NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu) rs41273175
NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu) rs72953172
NM_003748.4(ALDH4A1):c.433G>A (p.Ala145Thr) rs113846237
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu) rs146450609
NM_003748.4(ALDH4A1):c.584C>T (p.Thr195Met) rs72936434
NM_003748.4(ALDH4A1):c.603+14G>A
NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=) rs60427141
NM_004531.5(MOCS2):c.*1913G>A
NM_004531.5(MOCS2):c.*2357T>C
NM_004531.5(MOCS2):c.*2900A>G
NM_004531.5(MOCS2):c.*413del rs3839261
NM_004531.5(MOCS2):c.104A>G (p.Asp35Gly)
NM_004531.5(MOCS2):c.148A>G (p.Thr50Ala) rs2233213
NM_004531.5(MOCS2):c.255A>G (p.Lys85=) rs2233216
NM_032316.3(NICN1):c.*2307G>C rs544461335
NM_152783.5(D2HGDH):c.*40C>T
NM_152783.5(D2HGDH):c.*410G>A rs568821876
NM_152783.5(D2HGDH):c.*474C>T rs570372209
NM_152783.5(D2HGDH):c.-92-4C>G rs146482048
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=) rs201294258
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile) rs146408017
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645

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