ClinVar Miner

List of variants reported as 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: 189
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HGVS dbSNP
NM_000071.2(CBS):c.*123C>G rs1051319
NM_000071.2(CBS):c.*299G>A rs12613
NM_000071.2(CBS):c.*544T>C rs706208
NM_000071.2(CBS):c.*565C>T rs706209
NM_000071.2(CBS):c.*566G>A rs111969522
NM_000071.2(CBS):c.*81G>A rs115406358
NM_000071.2(CBS):c.636C>T (p.Asn212=) rs2298758
NM_000071.2(CBS):c.829-12C>T rs75616587
NM_000071.2(CBS):c.939G>A (p.Thr313=) rs2228298
NM_000071.3(CBS):c.*10C>A rs9978104
NM_000071.3(CBS):c.*540G>A rs111386779
NM_000071.3(CBS):c.*681A>G
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181
NM_000071.3(CBS):c.531+11G>A rs186114513
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706
NM_000170.2(GLDC):c.*410G>C rs35834773
NM_000170.2(GLDC):c.*473C>T rs1061407
NM_000170.2(GLDC):c.*540C>T rs7848919
NM_000170.2(GLDC):c.*7G>C rs2228098
NM_000170.2(GLDC):c.1384C>G (p.Leu462Val) rs73400312
NM_000170.2(GLDC):c.1508A>C (p.Glu503Ala) rs201890453
NM_000170.2(GLDC):c.1815C>T (p.Leu605=) rs74461075
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2316-13dup rs3215923
NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) rs141933811
NM_000170.2(GLDC):c.249G>A (p.Gly83=) rs12341698
NM_000170.2(GLDC):c.2919+3A>G rs73639325
NM_000170.2(GLDC):c.319A>G (p.Met107Val) rs138454333
NM_000170.2(GLDC):c.438G>A (p.Thr146=) rs13289273
NM_000170.2(GLDC):c.470+11T>C rs142534180
NM_000170.2(GLDC):c.501G>A (p.Glu167=) rs35374927
NM_000170.2(GLDC):c.660C>T (p.Leu220=) rs2228095
NM_000170.2(GLDC):c.666T>C (p.Asp222=) rs12004164
NM_000170.2(GLDC):c.871T>G (p.Cys291Gly) rs141014950
NM_000170.2(GLDC):c.936C>T (p.Ile312=) rs79057118
NM_000170.3(GLDC):c.2920-8C>T
NM_000277.3(PAH):c.*187G>A rs1801153
NM_000277.3(PAH):c.-71A>C rs2280615
NM_000277.3(PAH):c.-81C>T rs7954004
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503
NM_000481.4(AMT):c.*696C>T rs10640
NM_000481.4(AMT):c.-1G>A
NM_000481.4(AMT):c.898A>G (p.Met300Val) rs144971200
NM_000481.4(AMT):c.954G>A (p.Arg318=) rs11715915
NM_001032386.2(SUOX):c.-107C>T
NM_001032386.2(SUOX):c.-32C>T rs705703
NM_001032386.2(SUOX):c.119G>A (p.Arg40His)
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=) rs773115
NM_001032386.2(SUOX):c.1281G>T (p.Ser427=) rs773115
NM_001358530.2(MOCS1):c.*1002C>T rs115706925
NM_001358530.2(MOCS1):c.*1113T>G rs3828937
NM_001358530.2(MOCS1):c.*1136A>C rs60326448
NM_001358530.2(MOCS1):c.*1334A>C rs3749999
NM_001358530.2(MOCS1):c.*1405G>C rs3749998
NM_001358530.2(MOCS1):c.*1629G>T rs3793137
NM_001358530.2(MOCS1):c.*1775_*1778dup rs112997952
NM_001358530.2(MOCS1):c.*1893G>C rs3008816
NM_001358530.2(MOCS1):c.*1928C>G rs73414848
NM_001358530.2(MOCS1):c.*378G>A rs11968529
NM_001358530.2(MOCS1):c.*451C>T rs41273136
NM_001358530.2(MOCS1):c.*578C>T rs147395035
NM_001358530.2(MOCS1):c.*734C>G rs1063171
NM_001358530.2(MOCS1):c.*824C>G rs11968491
NM_001358530.2(MOCS1):c.*987C>T rs7758412
NM_001358530.2(MOCS1):c.1169C>A (p.Pro390His) rs11969769
NM_001358530.2(MOCS1):c.1212G>C (p.Pro404=) rs11969233
NM_001358530.2(MOCS1):c.124-216A>G rs3008822
NM_001358530.2(MOCS1):c.1316G>A (p.Arg439Gln) rs41273142
NM_001358530.2(MOCS1):c.1355G>T (p.Arg452Leu) rs11969206
NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His) rs41273140
NM_001358530.2(MOCS1):c.1800C>T (p.Ala600=) rs41273138
NM_001358530.2(MOCS1):c.330C>T (p.Leu110=) rs61746375
NM_001358530.2(MOCS1):c.583+10T>A rs34757428
NM_001358530.2(MOCS1):c.583+6C>T rs111409017
NM_001358530.2(MOCS1):c.645+9G>C rs73732319
NM_001358530.2(MOCS1):c.698C>T (p.Ala233Val) rs35825585
NM_001358530.2(MOCS1):c.716T>A (p.Leu239His) rs7762875
NM_001609.3(ACADSB):c.*109G>A rs34955007
NM_001609.3(ACADSB):c.*1200A>T rs11248371
NM_001609.3(ACADSB):c.*1202G>A rs181209320
NM_001609.3(ACADSB):c.*1868C>G rs10902868
NM_001609.3(ACADSB):c.*1972C>A rs187582823
NM_001609.3(ACADSB):c.*206A>C rs138299400
NM_001609.3(ACADSB):c.*2113G>A rs7922412
NM_001609.3(ACADSB):c.*2175A>C rs7909871
NM_001609.3(ACADSB):c.*2331C>G rs7079265
NM_001609.3(ACADSB):c.*2490T>C rs7914164
NM_001609.3(ACADSB):c.*262C>T rs12248515
NM_001609.3(ACADSB):c.*2957T>A rs115456304
NM_001609.3(ACADSB):c.*3234C>G rs3763738
NM_001609.3(ACADSB):c.*3299C>G rs116019965
NM_001609.3(ACADSB):c.*358T>C rs184796725
NM_001609.3(ACADSB):c.*3819A>G rs3980942
NM_001609.3(ACADSB):c.*4135G>A rs74159956
NM_001609.3(ACADSB):c.*4426T>C rs7732
NM_001609.3(ACADSB):c.*4467A>T rs6838
NM_001609.3(ACADSB):c.*473G>C rs189484621
NM_001609.3(ACADSB):c.*497C>T rs12248648
NM_001609.3(ACADSB):c.*545G>A rs1140593
NM_001609.3(ACADSB):c.-107G>A rs190149746
NM_001609.3(ACADSB):c.-87G>T rs150850221
NM_001609.3(ACADSB):c.-89G>T rs141443308
NM_001609.3(ACADSB):c.-97T>C rs148327034
NM_001609.3(ACADSB):c.1014C>T (p.His338=) rs57339164
NM_001609.3(ACADSB):c.1128+3A>T rs760423996
NM_001609.3(ACADSB):c.168A>G (p.Thr56=) rs34221067
NM_001609.3(ACADSB):c.38G>A (p.Arg13Lys) rs12263012
NM_001609.3(ACADSB):c.639C>T (p.His213=) rs1140591
NM_001609.3(ACADSB):c.786G>A (p.Pro262=) rs76111609
NM_001609.3(ACADSB):c.92A>G (p.His31Arg) rs57321698
NM_001609.3(ACADSB):c.946A>G (p.Ile316Val) rs1131430
NM_001609.4(ACADSB):c.*133C>G
NM_001609.4(ACADSB):c.*2670C>T
NM_001609.4(ACADSB):c.*3736G>T
NM_002203.4(ITGA2):c.*2041del rs35863692
NM_002203.4(ITGA2):c.*2940G>A rs6898333
NM_002203.4(ITGA2):c.*2999A>G rs6880055
NM_002203.4(ITGA2):c.*3026A>G rs7719848
NM_002203.4(ITGA2):c.*3385_*3386insGAAA rs59915734
NM_002203.4(ITGA2):c.*3986A>C rs7725246
NM_002203.4(ITGA2):c.*475_*477del rs199677547
NM_002203.4(ITGA2):c.*721A>C rs1109527
NM_002203.4(ITGA2):c.*894C>T rs1109526
NM_003748.4(ALDH4A1):c.*118G>A rs11740
NM_003748.4(ALDH4A1):c.*1198A>G rs7366541
NM_003748.4(ALDH4A1):c.*1239G>C rs1138328
NM_003748.4(ALDH4A1):c.*1275A>C rs1138333
NM_003748.4(ALDH4A1):c.*444T>C rs9117
NM_003748.4(ALDH4A1):c.*502A>G rs1802783
NM_003748.4(ALDH4A1):c.*702C>T rs3202002
NM_003748.4(ALDH4A1):c.*712C>T rs14311
NM_003748.4(ALDH4A1):c.*763T>C rs1138267
NM_003748.4(ALDH4A1):c.*921G>A rs1138269
NM_003748.4(ALDH4A1):c.*925C>T rs1140477
NM_003748.4(ALDH4A1):c.1050G>C (p.Ala350=) rs2230705
NM_003748.4(ALDH4A1):c.1221A>G (p.Ala407=) rs2230706
NM_003748.4(ALDH4A1):c.1230A>G (p.Ser410=) rs7550938
NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=) rs2230707
NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=) rs2230708
NM_003748.4(ALDH4A1):c.1408G>A (p.Val470Ile) rs2230709
NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala) rs6695033
NM_003748.4(ALDH4A1):c.1548C>T (p.Gly516=) rs61749348
NM_004531.5(MOCS2):c.*1011G>A
NM_004531.5(MOCS2):c.*1544C>A
NM_004531.5(MOCS2):c.*1673T>C
NM_004531.5(MOCS2):c.*1872C>T
NM_004531.5(MOCS2):c.*2032G>A
NM_004531.5(MOCS2):c.*2158C>T
NM_004531.5(MOCS2):c.*2415C>T
NM_004531.5(MOCS2):c.*2582A>C
NM_004531.5(MOCS2):c.*2651G>T
NM_004531.5(MOCS2):c.*321A>G rs73756618
NM_004531.5(MOCS2):c.*566C>T
NM_004531.5(MOCS2):c.*735G>A
NM_004531.5(MOCS2):c.229A>G (p.Thr77Ala)
NM_004531.5(MOCS2):c.367C>T (p.His123Tyr) rs2233218
NM_152783.5(D2HGDH):c.*254G>A rs6713318
NM_152783.5(D2HGDH):c.*266G>A rs145823152
NM_152783.5(D2HGDH):c.*26C>T rs141211991
NM_152783.5(D2HGDH):c.*27C>T rs150707660
NM_152783.5(D2HGDH):c.*427G>A rs142873084
NM_152783.5(D2HGDH):c.*433G>T
NM_152783.5(D2HGDH):c.*449C>T rs4234096
NM_152783.5(D2HGDH):c.*661C>T rs113372064
NM_152783.5(D2HGDH):c.*688G>A rs6716743
NM_152783.5(D2HGDH):c.*778C>T rs6746151
NM_152783.5(D2HGDH):c.*801A>G rs35671465
NM_152783.5(D2HGDH):c.*93T>C rs11552660
NM_152783.5(D2HGDH):c.-91C>G rs62191976
NM_152783.5(D2HGDH):c.-99A>G rs7370843
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile) rs1106639
NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser) rs139321130
NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr) rs144668507
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val) rs1105273
NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=) rs141343442
NM_152783.5(D2HGDH):c.1183C>T (p.Arg395Trp) rs149628174
NM_152783.5(D2HGDH):c.1272G>A (p.Pro424=) rs375565047
NM_152783.5(D2HGDH):c.1307-15C>T
NM_152783.5(D2HGDH):c.1377C>A (p.Pro459=) rs143940595
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=) rs111670322
NM_152783.5(D2HGDH):c.1476G>A (p.Pro492=) rs140096524
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln) rs77940364
NM_152783.5(D2HGDH):c.292+9G>A rs148813816
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887
NM_152783.5(D2HGDH):c.685-9T>C rs4234097
NM_152783.5(D2HGDH):c.990G>A (p.Pro330=)

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